| Order No. | Test Name | Gene/Region | Indication | Analysis Method | Sample Type | Sample Tube | Amount (min) | Transport Conditions | TAT (days) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 13, 18, 21, X and Y Chromosome Rapid FISH | 13, 18, 21, X and Y Chromosome | • Chromosomal Disease Suspicion • Infertility | FISH Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 3 |
| 2 | 5HTT (SLC6A4) Mutation Analysis | SLC6A4 (Short Allele or Deletion) | • SSRI Sensitivity and Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 3 | ABL1 Gene Mutation Analysis | ABL1 (Exon 4, 5, 6) | • Cancer, • Response to Drug Treatment | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA), FFPE | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 4 | ACE Gene Mutation Analysis | ACE | • Cardiovascular Risk | Gel Electrophoresis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 5 | ACTA2 Gene Mutation Analysis | ACTA2 (Whole Gene) | • Thoracic Aortic Aneurysm Aortic Dissection Type 4 | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 6 | ADA Gene Mutation Analysis | ADA (Whole Gene) | • Adenosine Deaminase Deficiency | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 7 | Alpha-1-Antitrypsin Deficiency | Protease Inhibitor (Pi) | • Alpha-1-Antitrypsin Deficiency (AAT) | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 8 | APOE Gene Allele Analysis | APOE | • Cardiovascular Risk | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 9 | ARSA Gene Mutation Analysis | ARSA (Whole Gene) | • Metachromatic Leukodystrophy | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 10 | ASPA Gene Mutation Analysis | ASPA (Whole Gene) | • Canavan Disease | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 11 | ATP7B Gene Sequence Analysis | ATP7B | Wilson Disease | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 21 |
| 12 | BCR/ABL Translocation | BCR-ABL t(9;22) | • Cancer | Real-Time PCR | Blood (EDTA), Bone Marrow (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 13 | BRAF + NRAS Gene Mutation Analysis | BRAF (Exon 11, 15) + NRAS (Exon 1, 2, 3) | • Cancer, • Response to Drug Treatment | Real-Time PCR | Blood (Streck), FFPE | EDTA Tube (purple cap) | 10 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 14 | BRAF Gene Mutation Analysis | BRAF (Exon 11, 15) | • Cancer, • Response to Drug Treatment | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 15 | BRCA1 - BRCA2 Gene Mutation Analysis | BRCA1 (Whole Gene), BRCA2 (Whole Gene) | • Cancer • Cancer Predisposition • Response to Drug Treatment | NGS | Blood (EDTA), FFPE | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 45 |
| 16 | BRCA1-2 Gene Deletion/Duplication | BRCA1 & BRCA 2 | Cancer | MLPA | Blood (EDTA) | EDTA Tube (purple cap) | 5 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 |
| 17 | BTD Gene Sequence Analysis | BTD | Biotinidase Deficiency | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 21 |
| 18 | CALR (Calreticulin) Gene Mutation Analysis | CALR | Essential Thrombocythemia and Primary Myelofibrosis | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 19 | CFTR Gene Mutation Analysis | CFTR | • Cystic Fibrosis | NGS / Fragment Analysis / Sequence Analysis / MLPA | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 10 |
| 20 | CHEK2 Gene Mutation Analysis | CHEK2 (Exon 9, 10) | • Cancer, • Li-Fraumeni Syndrome Type II, • Drug Response, • Anthracyclines | Sequence Analysis | Blood (EDTA), FFPE | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 21 | CHRNE Gene Mutation Analysis | CHRNE (Exon 11, 12) | • Congenital Myasthenic Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 22 | CLAUDIN 18.2 Gene Mutation Analysis | CLAUDIN 18.2 (Whole Gene) | Cancer | IHC | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 23 | CLCN7 Gene Mutation Analysis | CLCN7 (Whole Gene) | • Osteopetrosis | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 24 | Connexin 26 Gene Mutation Analysis | Connexin 26 (Exon 2) | • Congenital Deafness | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 25 | CRLF1 Gene Mutation Analysis | CRLF1 (Whole Gene) | • Cold-Induced Sweating Syndrome Type 1 | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 26 | CYP1A2 Mutation Analysis | CYP1A2 (*1C, *1F) | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 27 | CYP2C19 Gene Mutation Analysis | CYP2C19 (*1, *2, *3, *4, *17) | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 28 | CYP3A4 Mutation Analysis | CYP3A4 (*2) | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 29 | DHCR7 Gene Mutation Analysis | DHCR7 (Whole Gene) | • Smith-Lemli-Opitz Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 45 |
| 30 | Dystrophin Gene Mutation Analysis | Dystrophin (79 Exons) | • DMD/BMD | MLPA | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 31 | DNA Identification (Pre-Freezing) | STR (Short Tandem Repeat) Regions | Identity verification before freezing. | Fragment Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 32 | DOK7 Gene Mutation Analysis | DOK7 (Whole Gene) | • Pena-Shokeir Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 33 | DPYD Gene Mutation Analysis | DPYD (IVS14 + 1G>A, DPYD*2A) | • DPD Deficiency • 5-Fluorouracil Toxicity | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 34 | EGFR Gene Mutation Analysis | EGFR (Exon 18, 19, 20, 21) | • Cancer, • Response to Drug Treatment | Real-Time PCR | FFPE / Blood (Streck) | EDTA Tube (purple cap) | 10 ML | 2-8°C, deliver within 24h. No direct ice contact. | 10 |
| 35 | ELA2 Gene Mutation Analysis | ELA2 (Whole Gene) | • Neutropenia | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 36 | PGT-A (NGS) | 24 Chromosomes - Numerical and Structural Disorders | • Numerical and Structural Anomalies • Klinefelter, Mosaic Turner, etc. • Advanced Maternal Age • Recurrent Pregnancy Loss • Recurrent IVF Failure | NGS | Day 5 (Trophectoderm) Biopsy | Specialized PBS tubes provided by center | 5-10 cells | Room temperature | 15 |
| 37 | PGT-A + PGT-SR (NGS) | 24 Chromosomes - Translocation, Inversion | Maternal and/or Paternal Translocation/Inversion carrier status | NGS | Day 5 (Trophectoderm) Biopsy | Specialized PBS tubes provided by center | 5-10 cells | Room temperature | 3 Weeks |
| 38 | EndoPredict | UBE2C, BIRC5, DHCR7, STC2, AZGP1, IL6ST, RBBP8, MGP, OAZ1, CALM2, RPL37A, HBB | Breast Cancer | Real-Time PCR | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 2-3 weeks |
| 39 | ESR1 Gene Mutation Analysis | ESR1 (Whole Gene) | Cancer | Digital PCR | FFPE / Blood | EDTA Tube (purple cap) | 2-3 mL | 2-8°C, deliver within 24h. No direct ice contact. | 10 |
| 40 | F9 Gene Mutation Analysis | F9 (Whole Gene) | • Hemophilia B | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 41 | Factor II Gene Mutation Analysis | Factor II (Prothrombin) | • Cardiovascular Risk - FII Deficiency | Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 42 | Factor V Leiden Mutation Analysis | Factor V | • Cardiovascular Risk - FVL Thrombophilia | Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 43 | Factor V Mutation Analysis | Factor V (H1299R) | • Cardiovascular Risk - FVL Thrombophilia | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 44 | Factor XIII Mutation Analysis | Factor XIII (V34L) | • Cardiovascular Risk - FXIII Deficiency | Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 45 | FBN1 Gene Mutation Analysis | FBN1 (Whole Gene) | • Marfan Syndrome | NGS | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 46 | FGB Gene Mutation Analysis | FGB (Beta-Fibrinogen) (455G>A) | • Cardiovascular Risk | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 47 | FGFR3 Gene Mutation Analysis | FGFR3 (Exon 9, 10, 13, 15) | • Achondroplasia | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 15 |
| 48 | FGFR3 Gene Mutation Analysis | FGFR3 (Exon 10) | • Hypochondroplasia | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 10 |
| 49 | FGFR3 Gene Mutation Analysis | FGFR3 (Exon 9, 10, 13, 15) | • Hypochondroplasia | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 15 |
| 50 | FGFR3 Gene Mutation Analysis | FGFR3 (Exon 10, 15) | • Thanatophoric Dysplasia | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 10 |
| 51 | FISH Analysis - IGH/MYC Translocation and Fusion | MYC/IGH 8q24.21/14q32.33 t(8;14) | • Cancer | FISH Analysis | Bone Marrow (Heparin), FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 52 | FISH Analysis - PML/RARA Translocation and Fusion | PML/RARA 15q22/17q21.1 t(15;17) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 53 | FISH Analysis - 13q14.3 Deletion | D13S319 (13q14.3) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin) | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 54 | FISH Analysis - 1p/19q Deletions | 1p36 & 19q13 | • Cancer, • Drug Treatment Response | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 55 | FISH Analysis - 20/20q Deletion | 20q13.2 | • AML, • MDS, • Polycythemia Vera (PV) • Prognosis and Treatment Response | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin) | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 56 | FISH Analysis - 7/7q Deletion or Chromosome 7 Aneuploidy | 7/7q- (7q31) | • Cancer, • Myelodysplastic Syndromes (MDS) | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 57 | FISH Analysis - API2/MALT1 Translocation and Fusion | API2/MALT1 11q21/18q21 t(11;18) | • Cancer | FISH Analysis | Bone Marrow (Heparin), FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 58 | FISH Analysis - ATM Translocation | ATM (11q22.3) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 59 | FISH Analysis - AURKA | AURKA (20q13) | • Cancer | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 60 | FISH Analysis - BCR/ABL Translocation and Fusion | BCR/ABL 22q11.22/9q34.11 t(9;22) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 61 | FISH Analysis - C-MET Amplification and Chromosome 7 Aneuploidy | C-MET (7q31.2) | • Cancer | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 62 | FISH Analysis - C-MYC Amplification | C-MYC (8q24) | • Cancer, • Barrett's Esophagus | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 63 | FISH Analysis - CBFB/MYH11 Translocation and Fusion | CBFB (16q22) MYH11 (16p13.1) t(16;16) | • Cancer, • Eosinophilic Syndromes | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 64 | FISH Analysis - CCND1/IGH Translocation and Fusion | CCND1/IGH 11q13/14q32 t(11;14) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 65 | FISH Analysis - E2A (TCF3) Translocation | E2A (TCF3) (19p13.3) | • Cancer | FISH Analysis | Bone Marrow (Heparin), FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 66 | FISH Analysis - EGFR Amplification and Chromosome 7 Aneuploidy | EGFR (7p12) | • Cancer, • Drug Treatment Response | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 67 | FISH Analysis - EGR1 Deletion or Chromosome 5 Aneuploidy | EGR1 (5q31) | • Cancer, • Myelodysplastic Syndromes (MDS) | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 68 | FISH Analysis - EML4/ALK | EML4/ALK | • Cancer, • Drug Treatment Response | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 69 | FISH Analysis - ETO/AML1 Translocation and Fusion | ETO/AML1 8q21.3/21q22.12 t(8;21) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 70 | FISH Analysis - EWSR1 Translocation | EWSR1 (22q12) | • Cancer | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 71 | FISH Analysis - FIP1L1/PDGFRA Translocation | FIP1L1/PDGFRA (4q12) | • Cancer, • Drug Treatment Response | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 72 | FISH Analysis - HER2/NEU Amplification and Deletion | HER2/NEU (17q11.2-12) (C-ERBB2) | • Cancer, • Drug Treatment Response | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 73 | FISH Analysis - IGH Translocation | IGH (14q32) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 74 | FISH Analysis - IGH/BCL2 Translocation and Fusion | IGH/BCL2 14q32/18q21 t(14;18) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 75 | FISH Analysis - IGH/FGFR3 Translocation and Fusion | IGH/FGFR3 4p16.3/14q32.33 t(4;14) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 76 | FISH Analysis - IGH/MAF Translocation and Fusion | IGH/MAF 14q32/16q23 t(14;16) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 77 | FISH Analysis - Chromosome 12 Aneuploidy | Chromosome 12 | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 78 | FISH Analysis - Chromosome 8 Aneuploidy | Chromosome 8 | • Cancer, • Myelodysplastic Syndrome (MDS) | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin) | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 79 | FISH Analysis - LAMP1 Translocation | LAMP1 (13q34) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin) | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 80 | FISH Analysis - MALT1 Translocation and Chromosome 18 Aneuploidy | MALT1 (18q21) | • Cancer | FISH Analysis | Bone Marrow (Heparin), FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 81 | FISH Analysis - MLL Translocation | MLL (11q23) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 82 | FISH Analysis - N-MYC Amplification and Chromosome 2 Aneuploidy | N-MYC (2p24.3) | • Cancer | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 83 | FISH Analysis - P53 Deletion | P53 (17p13.1) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 84 | FISH Analysis - PD-L1&2 (CD274) Amplification and Deletion | PD-L1&2 (9p24.1) | • Cancer, • Drug Treatment Response | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 85 | FISH Analysis - RB1 Deletion | RB1 (13q14) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 86 | FISH Analysis - ROS1 Translocation | ROS1 (6q22.1) | • Cancer, • Drug Treatment Response | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 87 | FISH Analysis - TEL/AML1 Translocation | TEL/AML1 (12q13.2 / 21q22.12) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 88 | FISH Analysis - TOP2A Amplification and Deletion | TOP2A (17q21.2) | • Cancer, • Drug Response, • Anthracyclines | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 89 | FISH Analysis – ALK Translocation and Fusion | ALK (2p23) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 90 | FISH Analysis – IGF1R Amplification and Deletion | IGF1R (15q26) | • Cancer, • Drug Treatment Response | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 7 |
| 91 | FISH Analysis – RARA Translocation | RARA (17q21) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin), FFPE | Heparinized Blood (Green Cap) | 2-3 ML | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 92 | FLT3 Gene Mutation Analysis | FLT3 ITD and D835 | • Cancer | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 93 | FMF Mutation Analysis | MEFV | • Familial Mediterranean Fever | Sequence Analysis / NGS | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 10 |
| 94 | FMR1 Gene CGG Repeat Analysis | FMR1 | • Fragile X Syndrome | Fragment Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 95 | Focus Lung Fusion | ALK, BRAF, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, KRAS, MET, NRG1, NTRK1, NTRK2, NTRK3, NUTM1, PIK3CA, RET, ROS1 | Cancer | NGS | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10-14 Days |
| 96 | Focus Lung and Colon | AKT1, ALK, BRAF, CTNNB1, EGFR, ERBB2, ERBB3, ESR1, FOXL2, GNA11, GNAQ, IDH1, IDH2, KIT, KRAS, MET, NRAS, PDGFRA, PIK3CA, RAF1, RET, TP53 | Cancer | NGS | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10-14 Days |
| 97 | FOCUS CGP | ABL1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, AMER1 (FAM123B or WTX), APC, AR, ARAF, ARFRP1, ARID1A, ASXL1, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXL, B2M, BAP1, BARD1, BCL2, BCL2L1, BCL2L2, BCL6, BCOR, BCORL1, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTG2, BTK, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD22, CD274 (PD-L1), CD70, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHEK1, CHEK2, CIC, CREBBP, CRKL, CSF1R, CSF3R, CTCF, CTNNA1, CTNNB1, CUL3, CUL4A, CXCR4, CYP17A1, DAXX, DDR1, DDR2, DICER1, DIS3, DNMT3A, DOT1L, EED, EGFR, EMSY (C11orf30), EP300, EPHA3, EPHB1, EPHB4, ERBB2, ERBB3, ERBB4, ERCC4, ERG, ERRFI1, ESR1, ETV6, EZH2, FANCA, FANCC, FANCG, FANCL, FAS, FBXW7, FGF10, FGF12, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLT1, FLT3, FOXL2, FUBP1, GABRA6, GATA3, GATA4, GATA6, GID4 (C17orf39), GNA11, GNA13, GNAQ, GNAS, GRM3, GSK3B, H3-3A (H3F3A), HDAC1, HGF, HNF1A, HRAS, HSD3B1, ID3, IDH1, IDH2, IGF1R, IKBKE, IKZF1, IKZF2, IKZF3, INPP4B, IRF2, IRF4, IRS2, JAK1, JAK2, JAK3, JUN, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIT, KLHL6, KMT2A (MLL), KMT2D (MLL2), KRAS, LTK, LYN, MAF, MAP2K1 (MEK1), MAP2K2 (MEK2), MAP2K4, MAP3K1, MAP3K13, MAPK1, MCL1, MDM2, MDM4, MED12, MEF2B, MEN1, MERTK, MET, MITF, MKNK1, MLH1, MPL, MRE11 (MRE11A), MSH2, MSH3, MSH6, MST1R, MTAP, MTOR, MUTYH, MYC, MYCL (MYCL1), MYCN, NBN, MYD88, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NSD2 (WHSC1 or MMSET), NSD3 (WHSC1L1), NT5C2, NTRK1, NTRK2, NTRK3, P2RY8, PALB2, PARP1, PARP2, PARP3, PAX5, PBRM1, PDCD1 (PD-1), PDCD1LG2 (PD-L2), PDGFRA, PDGFRB, PDK1, PIK3C2B, PIK3CA, PIK3CB, PIK3R1, PIM1, PLCG2, PMS2, POLD1, POLE, PPARG, PPP2R1A, PPP2R2A, PRDM1, PRKAR1A, PRKCI, PRKN (PARK2), PTCH1, PTEN, PTPN11, PTPRO, QKI, RAC1, RAD21, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RARA, RB1, RBM10, REL, RET, RICTOR, RNF43, ROS1, RPTOR, RUNX1, SDHA, SDHB, SDHC, SDHD, SETD2, SF3B1, SGK1, SMAD2, SMAD4, SMARCA4, SMARCB1, SMO, SNCAIP, SOCS1, SOX2, SOX9, SPEN, SPOP, SRC, SRSF2, STAG2, STAT3, STK11, SUFU, SYK, TBX3, TEK, TENT5C (FAM46C), TET2, TGFBR2, TIPARP, TNFAIP3, TNFRSF14, TP53, TP53BP1, TSC1, TSC2, TYRO3, U2AF1, VEGFA, VHL, WT1, XPO1, XRCC2, ZEB2, ZNF217, ZNF703, ZRSF2. | Cancer | NGS / Hybrid Capture | FFPE / FNA / Cell Block | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 2-3 Weeks |
| 98 | Focus Lymphoma | ATM, BIRC3, BRAF, DDX3X, DNMT3A, ID3, IDH2, KLF2, MYC, MYD88, NFKBIE, NOTCH1, NOTCH2, RHOA, SF3B1, STAT3, TCF3, TET2, TP53 | Cancer | NGS | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10-14 Days |
| 99 | Focus Myeloid | ASXL1, CALR, CBL, CEBPA, CSF3R, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, RUNX1, SETBP1, SF3B1, SH2B3, SRSF2, TET2, TP53, U2AF1, ZRSR2 | Cancer | NGS | Bone Marrow / Blood | EDTA Tube (purple cap) | 2-3 mL | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10-14 Days |
| 100 | Focus Sarcoma Fusion | ALK, BCOR, BRAF, CAMTA1, CCNB3, CIC, CSF1, CTNNB1, EGFR, EPC1, ERG, ESR1, ETV1, ETV4, ETV5, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FOS, FOSB, FOXO1, FUS, GLI1, HMGA2, JAZF1, MBTD1, MDM2, MEAF6, MET, MGEA5, MKL2, MYOD1, NCOA1, NCOA2, NCOA3, NR4A3, NTRK1, NTRK2, NTRK3, NUTM1, PAX3, PDGFB, PDGFRA, PHF1, PLAG1, PRKCA, PRKCB, PRKCD, RAF1, RET, ROS1, SS18, STAT6, TAF15, TCF12, TFE3, TFG, USP6, VGLL2, YAP1, YWHAE | Cancer | NGS | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10-14 Days |
| 101 | FOCUS SOLID + MSI | AKT1, ALK, APC, AR, ATRX, BRAF, CDK4, CDK6, CDKN2A, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, FBXW7, FGFR1, FGFR2, FGFR3, FOXL2, GNA11, GNAQ, GNAS, H3F3A, HIST1H3B, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, MYC, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NRAS, NTRK1, NTRK2, NTRK3, PDGFRA, PIK3CA, POLD1, POLE, PTEN, RAF1, RB1, RET, RICTOR, ROS1, SMAD4, SMO, TERT, TP53, VHL | Cancer | NGS | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10-14 Days |
| 102 | FSHB Gene Mutation Analysis | FSHB (211G>T) | • Infertility | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 103 | G6PC Gene Mutation Analysis | G6PC (Whole Gene) | • GSD Type 1A (Von Gierke) | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 104 | G6PD Gene Mutation Analysis | G6PD (Whole Gene) | • G6PD Deficiency | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 105 | GALK1 Gene Mutation Analysis | GALK1 (Whole Gene) | • Galactokinase Deficiency | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 106 | GALNS Gene Mutation Analysis | GALNS (Whole Gene) | • Mucopolysaccharidosis Type IVA | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 107 | GALT Gene Mutation Analysis | GALT (Whole Gene) | • Galactosemia | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 108 | GATA3 Gene Mutation Analysis | GATA3 (Whole Gene) | • Hypoparathyroidism-Deafness-Renal Dysplasia | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 109 | GATA3 Gene Mutation Analysis | GATA3 (Whole Gene) | • HDR Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 110 | GJB1 Gene Mutation Analysis | GJB1 (Whole Gene) | • Congenital Deafness | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 111 | GLA Gene Mutation Analysis | GLA (Whole Gene) | • Fabry Disease | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 112 | GSTM1 Mutation Analysis | GSTM1 | • Drug Toxicity • Cancer Risk Analysis | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 113 | HAE Gene Mutation Analysis | HAE | • Factor XII | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 10 |
| 114 | HBA1 & HBA2 Gene Mutation Analysis | HBA1, HBA2 | • Alpha Thalassemia | • Sequence Analysis • MLPA | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 115 | HBB Gene Mutation Analysis | HBB (Whole Gene) | • Beta Thalassemia | • Sequence Analysis • MLPA | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 15 |
| 116 | HFE Gene Mutation Analysis | HFE (H63D and C282Y) | • Hemochromatosis | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 117 | HLA + Single Gene Disease (PGT-M) | HLA + Single Gene Disease | Sequence Analysis | Day 5 TE Biopsy Family: Blood (EDTA) | Specialized PBS tubes provided by center | 5-10 cells | Room temperature | 8 Weeks | |
| 118 | HLA Gene Mutation Analysis | HLA (DQ2, DQ8) | • Celiac Disease – Gluten Intolerance | Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 119 | HLA-B5 Gene Mutation Analysis | HLA-B5 | Behcet's Disease | Real-Time PCR | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3 ML | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 10 |
| 120 | HLA-DQ2, HLA-DQ8 | HLA-DQ2, HLA-DQ8 | Celiac Disease | Real-Time PCR | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 10 |
| 121 | HLAB27 Gene Mutation Analysis | HLAB27 | • Autoimmune Diseases | Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 122 | HPA1 Gene Allele Analysis | HPA1 | • Cardiovascular Risk | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 123 | HRAS Gene Mutation Analysis | HRAS (Exon 1, 2) | • Cancer | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 124 | IDH1 Gene Mutation Analysis | IDH1 (Exon 4) | • Cancer | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA), FFPE | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 125 | IDH2 Gene Mutation Analysis | IDH2 (Exon 4) | • Cancer | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA), FFPE | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 127 | IDS Gene Mutation Analysis | IDS (Whole Gene) | • Mucopolysaccharidosis Type II | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 128 | IDUA Gene Mutation Analysis | IDUA (Whole Gene) | • Hurler Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA Tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 129 | Drug Sensitivity Panel - Extended | CYP2D6, CYP2C9, CYP2C19, NAT2, CYP1A2 | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 130 | Drug Sensitivity Panel - Neuropsychiatry | CYP2D6, CYP2C9, CYP2C19, CYP1A2, CYP3A4 | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 131 | Drug Sensitivity Panel - Standard | CYP2D6, CYP2C9, CYP2C19 | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 132 | Drug Sensitivity - CYP2D6 Mutation Analysis | CYP2D6 (*1, *2, *3, *4, *6, *7, *8, *9, *10, *11, *12, *14, *17, *29, *39, *41) | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 133 | Drug Sensitivity - VKORC1 Gene Mutation Analysis | VKORC1 (-1639C>A) | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 134 | Drug Sensitivity - Warfarin Dose Panel | CYP2C9, VKORC1 | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 135 | JAK2 Gene Mutation Analysis | JAK2 (V617F) | • Cancer, • Essential Thrombocythemia (ET), • HES, • MDS, • Polycythemia Vera (PV), • Drug Response, • Relapse Monitoring | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 136 | JAK2 Gene Mutation Analysis | JAK2 (Exon 12) | • Cancer, • ET, • HES, • MDS, • PV, • Drug Response, • Relapse Monitoring | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 137 | Comprehensive Obesity and MODY Panel | MODY (81 Genes; 68 Obesity, 13 MODY) | •Obesity • Diabetes | NGS | EDTA Blood | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 40 |
| 138 | Cardiovascular Risk Panel (12 Mutations) | FGB, HPA1, ACE, APOE, F13, F2, F5 Leiden, MTHFR etc. | • Cardiovascular Risk | Sequence Analysis + Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 139 | Post-Bone Marrow (BM) Transplantation Monitoring | • Post-Transplant Success | Molecular | Blood (EDTA) / Bone Marrow (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 | |
| 140 | KIT Gene Mutation Analysis | KIT (Exon 9, 11, 13, 17) | • Cancer, • Drug Treatment Response | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA), FFPE | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 141 | Chimerism Analysis - by FISH | Sex Chromosomes | • Post-Transplant Success | FISH Analysis | Blood (Heparin) / Bone Marrow (Heparin) | Heparinized Blood (Green Cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 46145 |
| 142 | Chimerism Analysis - by PCR (Recipient - Donor) | STR Regions | • Post-BM Transplant Success | Fragment Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 143 | KRAS + NRAS Gene Mutation Analysis | KRAS + NRAS (Codon 12, 13, 59, 61, 117, 146) | • Cancer, • Drug Treatment Response | Real-Time PCR | Blood (Streck), FFPE | EDTA Tube (purple cap) | 10 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 144 | KRAS Gene Mutation Analysis | KRAS (Whole Gene) | • Cancer, • Drug Treatment Response | Sequence Analysis | Blood (EDTA), FFPE | EDTA Tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 21 |
| 145 | KRAS Gene Mutation Analysis | KRAS (Codon 12, 13, 59, 61, 117, 146) | • Cancer, • Drug Treatment Response | Real-Time PCR | Blood (Streck), FFPE | EDTA Tube (purple cap) | 10 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 146 | Chromosome Analysis - Abortus | 24 Chromosomes | • Chromosomal Disease Suspicion • Multiple Congenital Anomaly • Recurrent Pregnancy Loss | Cell Culture | Abortus Material | Suitable sample tube | 30-50μG | Shipped via cold chain. | 21 |
| 147 | Chromosome Analysis - Amniotic Fluid | 24 Chromosomes | • Chromosomal Disease Suspicion • Pathological USG • Maternal Age • Abnormal Triple Test | Cell Culture | Amniotic Fluid | Sterile tube | 15-20ML | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 148 | Chromosome Analysis - Skin Tissue | 24 Chromosomes | • Chromosomal Disease Suspicion • Multiple Congenital Anomaly • Mental Retardation • Recurrent Pregnancy Loss • Infertility | Cell Culture | Skin Tissue | Suitable sample tube | 30-50μG | Room temperature | 21 |
| 149 | Chromosome Analysis - CVS | 24 Chromosomes | • Chromosomal Disease Suspicion • Pathological USG • Maternal Age • Abnormal Triple Test | Cell Culture | Chorionic Villus | Deliver in plungerless syringe in RPMI | 2-3 Pcs Villus (2-3MG) | Room temperature | 21 |
| 150 | Chromosome Analysis - Blood | 24 Chromosomes | • Chromosomal Disease Suspicion • Multiple Congenital Anomaly • Mental Retardation • Recurrent Pregnancy Loss • Infertility | Cell Culture | Peripheral Blood (Heparinized) / Bone Marrow | Heparinized Blood (Green Cap) | 2-3 ML | Should be delivered within 24 hours at 15-25 °C. | 15 |
| 151 | Chromosome Analysis - Cord Blood | 24 Chromosomes | • Chromosomal Disease Suspicion • Pathological USG • Maternal Age • Abnormal Triple Test | Cell Culture | Cord Blood (Heparinized) | Heparinized Blood (Green Cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 152 | Chromosome Analysis + Rapid FISH - Amniotic Fluid | 24 Chromosomes | • Chromosomal Disease Suspicion • Pathological USG • Maternal Age • Abnormal Triple Test | Cell Culture | Amniotic Fluid | Sterile tube | 15-20ML | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 2 + 21 |
| 153 | Chromosome Analysis + Rapid FISH - CVS | 24 Chromosomes | • Chromosomal Disease Suspicion • Pathological USG • Maternal Age • Abnormal Triple Test | Cell Culture | Chorionic Villus | Suitable sample tube | 2-3MG | Room temperature | 2 + 21 |
| 154 | Maternal Contamination Test | STR Regions | • Contamination Elimination | Fragment Analysis | EDTA Blood + Abortus/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 15 |
| 155 | MECP2 Gene Mutation Analysis | MECP2 (Whole Gene) | • Rett Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 156 | MEK1 Gene Mutation Analysis | MEK1 (Exon 2,3) | • Cardiofaciocutaneous Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 15 |
| 157 | MEK2 Gene Mutation Analysis | MEK2 (Exon 1, 2, 3) | • Cardiofaciocutaneous Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 15 |
| 158 | Microdeletion FISH - Cri-du-chat | 5p15.2 | • Cri-du-chat Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. | 7 |
| 159 | Microdeletion FISH - Prader-Willi/Angelman | SNRPN (15q11.2) | • Prader-Willi/Angelman Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 160 | Microdeletion FISH - Smith-Magenis | RAI1 (17p11.2) | • Smith-Magenis Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 161 | Microdeletion FISH - Sotos | NSD1 (5q35) | • Sotos Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 162 | Microdeletion FISH - Wolf-Hirschhorn | WHSC (4p16.3) | • Wolf-Hirschhorn Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 163 | Microdeletion FISH - X Inactivation | XIST (Xq13.2) | • X Inactivation | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 164 | Microdeletion FISH - Alagille | JAG1 (20p12.2) | • Alagille Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 165 | Microdeletion FISH - DiGeorge/VCFS | TUPLE1 (22q11.2) | • DiGeorge/VCFS Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 166 | Microdeletion FISH - Diaphragmatic Hernia | IGF1R (15q26) | • Congenital Diaphragmatic Hernia | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 167 | Microdeletion FISH - Kallmann | KAL1 (Xp22.3) | • Kallmann Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 168 | Microdeletion FISH - Neurofibromatosis | NF1 (17q11.2) | • Neurofibromatosis Type 1 | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 169 | Microdeletion FISH - Williams-Beuren | ELN (7q11.23) | • Williams-Beuren Syndrome | FISH Analysis | Heparinized Blood/AF/CVS | Heparinized Blood (Green Cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 170 | Microsatellite Instability (MSI) | DNA STR Regions | • HNPCC (Lynch Syndrome) Screening | Fragment Analysis | Blood (EDTA), FFPE | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 171 | Molecular Karyotyping | 24 Chromosomes | Infertility, Recurrent Loss, Multiple Congenital Anomaly | aCGH | EDTA Blood /AF/CVS/Abortus | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 15 |
| 172 | MPL Gene Mutation Analysis | MPL (W515L/K and S505N) | • Cancer, • Essential Thrombocythemia (ET) | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA) | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 173 | MPZ Gene Mutation Analysis | MPZ (Whole Gene) | • Charcot-Marie-Tooth Disease | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 174 | MTHFR Gene Mutation Analysis | MTHFR (C677T) | • Cardiovascular Risk | Real-Time PCR | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 175 | MTHFR Gene Mutation Analysis | MTHFR (A1298C) | • Cardiovascular Risk | Real-Time PCR | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 176 | MTND Gene Mutation Analysis | MTND (A52T, R340H, M64V) | • Leber Hereditary Optic Neuropathy (LHON) | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 177 | NEU1 Gene Mutation Analysis | NEU1 (Whole Gene) | • Sialidase (Neuraminidase) | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 178 | NGS FOCUS 77L | 77 Cancer Related Genes | Cancer | NGS | ctDNA | Streck tube / EDTA Plasma | 10 ML | Room temperature | 2-3 Weeks |
| 179 | NGS FOCUS Hereditary | Cancer Predisposition Genes | Cancer Predisposition | NGS | Blood | EDTA tube (purple cap) | 2-3 mL | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 4 Weeks |
| 180 | NOTCH3 Gene Mutation Analysis | NOTCH3 (Exon 3,4) | • CADASIL | Sequence Analysis | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 181 | NOTCH3 Gene Mutation Analysis | NOTCH3 (Exon 3,4,11,18,19) | • CADASIL | Sequence Analysis | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 |
| 182 | Neurofibromatosis Type 1 | NF1 Deletion / Duplication | Suspected NF1 or family history | MLPA | Blood (EDTA) | EDTA tube (purple cap) | 5 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 |
| 183 | Neurofibromatosis Type 1 | NF1 Targeted Gene Analysis | Suspected NF1 or family history | NGS | Blood (EDTA) | EDTA tube (purple cap) | 5 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 |
| 184 | Neurofibromatosis Type 2 | NF2 Deletion / Duplication | Suspected NF2 diagnosis and differentiation | MLPA | Blood (EDTA) | EDTA tube (purple cap) | 5 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 |
| 185 | Neurofibromatosis Type 2 | NF2 Targeted Gene Analysis | Suspected NF2 diagnosis and differentiation | NGS | Blood (EDTA) | EDTA tube (purple cap) | 5 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 |
| 186 | NPM1 Gene Mutation Analysis | NPM1 (Exon 12) | • Cancer | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA) | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 187 | NRAS Gene Mutation Analysis | NRAS (Codons 12, 13, 59, 61, 117, 146) | • Cancer, • Drug Treatment Response | Real-Time PCR | Blood (Streck), FFPE | EDTA tube (purple cap) | 10 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 188 | NTRK1 Gene Mutation Analysis | NTRK1 (Whole Gene) | Cancer | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 189 | NTRK2 Gene Mutation Analysis | NTRK2 (Whole Gene) | Cancer | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 190 | NTRK3 Gene Mutation Analysis | NTRK3 (Whole Gene) | Cancer | FISH Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 191 | Osteoporosis Panel | VDR, CALCR, COL1A1, ESR1 | Recommended for Osteoporosis Diagnosis | Sequence Analysis | Blood | EDTA tube (purple cap) | 2-3 ml | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 192 | OSTM1 Gene Mutation Analysis | OSTM1 (Whole Gene) | • Osteopetrosis | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 193 | Autoinflammatory Diseases Panel | 5-15 Genes | Autoinflammatory Diseases | Sequence Analysis | EDTA Blood | EDTA tube (purple cap) | 5 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 60 |
| 194 | p16 Gene Mutation Analysis | p16 (Whole Gene) | • Cancer | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 15 |
| 195 | P53 Gene Mutation Analysis | P53 (Exons 4, 5, 6, 7, 8, 9) | • Li-Fraumeni Syndrome Type I, • Cancer | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 15 |
| 196 | PAH Gene Mutation Analysis | PAH Gene | Phenylketonuria | Sequence Analysis | EDTA Blood | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 21 |
| 197 | PAI-1 Gene Mutation Analysis | PAI-1 (4G/5G) | • Cardiovascular Risk | Real-Time PCR | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 198 | PDGFRA Gene Mutation Analysis | PDGFRA (12, 18, 19) | • Cancer, • Drug Treatment Response | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 15 |
| 199 | PDGFRB Gene Mutation Analysis | PDGFRB (Exon 18, 19) | • Cancer, • Kosaki Syndrome, • Infantile Myofibromatosis | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 200 | PGT-M: Rare Single Gene Diseases | Targeted Gene Analysis | Sequence Analysis | Day 5 TE Biopsy, Family: Blood (EDTA) | Special PBS tubes prepared by our center | 5-10 cells | Room temperature | 8 Weeks | |
| 201 | PGT-M: Common Single Gene Diseases | Thalassemia, CF, SMA, FMF, HLA Typing | • Single Gene Disease | Sequence Analysis | Day 5 TE Biopsy, Family: Blood (EDTA) | Special PBS tubes prepared by our center | 5-10 cells | Room temperature | 6 Weeks |
| 202 | PIK3CA Gene Mutation Analysis | PIK3CA (Exon 9, 20) | • Cancer | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 203 | PKU Gene Mutation Analysis | PKU (Whole Gene) | • Phenylketonuria Disease | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 204 | PMP22 Gene Duplication Analysis | PMP22 | • Charcot-Marie-Tooth (CMT1A) | Fragment Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 205 | PMP22 Gene Mutation Analysis | PMP22 (Whole Gene) | • Charcot-Marie-Tooth 1A (CMT1A) | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 206 | POLE Gene Mutation Analysis | POLE (Whole Gene) | Cancer | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 10 |
| 207 | PTEN Gene Mutation Analysis | PTEN (Whole Gene) | • Cancer, • Drug Treatment Response | Sequence Analysis | FFPE | Paraffin block / slides | 5-10 Pcs (4-5 micron thick) | Shipped at room temperature | 21 |
| 208 | PTPN11 Gene Sequence Analysis | PTPN11 | Noonan Syndrome | Sequence Analysis | Blood (EDTA) | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 |
| 209 | RAB27A Gene Mutation Analysis | RAB27A (Whole Gene) | • Griscelli Syndrome Type 2 | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 210 | RAPSN Gene Mutation Analysis | RAPSN (Whole Gene) | • Pena-Shokeir Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 211 | Rasopathy Panel | A2ML1, ACTB, ACTG1, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, RREB1, SASH1, SHOC2, SOS1, SOS2, SPRED1, YWHAZ | Noonan, Costello, CFC Syndrome | Sequence Analysis | Blood (EDTA) | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 60 |
| 212 | RET GENE MUTATION ANALYSIS | RET (Exons 10, 11, 13, 14, 15, 16) | • Cancer • Multiple Endocrine Neoplasia Type 2A/2B (MEN2A/MEN2B) | Sequence Analysis | Blood (EDTA) | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 15 |
| 213 | RPS19 GENE MUTATION ANALYSIS | RPS19 (Whole Gene) | • Blackfan-Diamond Anemia | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 214 | SBDS GENE MUTATION ANALYSIS | SBDS (Whole Gene) | • Shwachman-Diamond Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 215 | SH2D1A GENE MUTATION ANALYSIS | SH2D1A (Whole Gene) | • Lymphoproliferative Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 216 | SIGNATERA | 16 patient-specific mutations tracked | All Solid Tumors | NGS/Hybrid Capture | FFPE/Blood | EDTA tube (purple cap) | 2-3 mL | Should be delivered within 24 hours at 15-25 °C. | Kurulum (Setup): 6-8 hafta Takip (Follow-up):2-3 hafta |
| 217 | SLC37A4 GENE MUTATION ANALYSIS | SLC37A4 (Whole Gene) | • GSD Type 1B/1C | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 218 | SMA CARRIER SCREENING | SMN1-2 | • Spinal Muscular Atrophy (SMA) Carrier Screening | Real-Time PCR | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 7 |
| 219 | SMN1-2 GENE MUTATION ANALYSIS (DELETION & DUPLICATION) | SMN1-2 | • Spinal Muscular Atrophy (SMA) | MLPA | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 14 |
| 220 | SMPD GENE MUTATION ANALYSIS | SMPD (Whole Gene) | • Niemann-Pick Syndrome | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 221 | SOD1 GENE MUTATION ANALYSIS | SOD1 (Whole Gene) | • Amyotrophic Lateral Sclerosis (ALS) | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 222 | SPERM DNA FRAGMENTATION ANALYSIS | DNA strand breaks | Infertility | TUNEL Assay | Concentrated Sperm | Sterile Sperm Container | 2-3ML | Room temperature. Specify sample status (fresh or fixative) in the form. | 15 |
| 223 | SPERM FISH | Chromosomes 13, 18, 21, X and Y | • Infertility | FISH Analysis | Concentrated Sperm | Sterile Sperm Container | 2-3 ML | Room temperature. Specify sample status (fresh or fixative) in the form. | 3-5 |
| 224 | SRD5A2 GENE MUTATION ANALYSIS | SRD5A2 (Whole Gene) | • 5α-Reductase Deficiency Type 2 | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 225 | TCIRG GENE MUTATION ANALYSIS | TCIRG (Whole Gene) | • Osteopetrosis | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 30 |
| 226 | TOR1A1 GENE GAG DELETION ANALYSIS | TOR1A1 | • Dystonia (DYT1) | Sequence Analysis | EDTA Blood/AF/CVS | EDTA tube (purple cap) | 2-3ML/5-20ML/2-3MG | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 21 |
| 227 | TPMT MUTATION ANALYSIS (TPMT*2, *3A, *3B, *3C) | TPMT (c.238, c.460, c.719) | • Azathioprine, 6-Mercaptopurine, 6-Thioguanine Toxicity | Sequence Analysis | Blood (EDTA) | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 228 | THROMBOPHILIA PANEL | Factor II, Factor V, MTHFR C677T, MTHFR A1298C | • Cardiovascular Risk | Real-Time PCR | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 7 |
| 229 | TSC1-TSC2 Gene Sequence Analysis | TSC1-TSC2 | Tuberous Sclerosis | Sequence Analysis | Blood (EDTA) | EDTA tube (purple cap) | 2 - 3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 30 |
| 230 | WHOLE EXOME SEQUENCING (WES) | Whole Exome | Analysis of ~22,000 genes (exons/junctions) and CNVs. | NGS | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 60 |
| 231 | Prenatal WES Analysis (Index) | Whole Exome | Exon/junction analysis of ~22,000 genes. Includes Maternal Contamination test. | NGS | AF/CVS / EDTA Blood | EDTA tube (purple cap) | 2-3ML | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 60 |
| 232 | Whole Genome Sequencing (WGS) Analysis | Whole Genome | Analysis of whole genome (exons + introns) and CNV mapping for complex rare diseases. | NGS | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 60 |
| 233 | Clinical Exome Sequencing (CES) | Clinically Related ~5,000 Genes | Targeted analysis of genes associated with specific clinical phenotypes (e.g. Noonan, Skeletal Dysplasia). | NGS | AF/CVS / EDTA Blood | EDTA tube (purple cap) | 2-3ML | Should be delivered within 24 hours at 15-25 °C. Amniotic and CVS samples must be delivered with ice packs. | 60 |
| 234 | UGT1A1 REPEAT ANALYSIS | UGT1A1*28 (TATA BOX) | • Irinotecan Toxicity • Hereditary Hyperbilirubinemia • Gilbert Syndrome | Sequence Analysis | Blood (EDTA) | EDTA tube (purple cap) | 2-3 ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
| 235 | Y CHROMOSOME MICRODELETION | Y Chromosome (24 STRs) | • Infertility | Fragment Analysis | EDTA Blood | EDTA tube (purple cap) | 2-3ML | Deliver within 24 hours at 15-25 °C. Do not place in direct contact with ice due to hemolysis risk. | 10 |
Tests marked with (*) are accredited by TÜRKAK.
– Content on this page was revised on 23.02.2026.
– To perform PGT for single-gene disorders, the clinical diagnosis of the disease must be established within the family, and the mutation must be identified through genetic testing.
– If the mutation has not been identified, additional time is required to identify it by analyzing the gene responsible for the disease (at a local or international center).
– If the mutation has been identified, a set-up procedure is mandatory prior to IVF and PGT for mutations falling into our “other disease group.”
– Our tests are open for sample acceptance and processing on weekdays from 09:00 to 18:00 and on Saturdays from 09:00 to 14:00.
19 Mayıs Mah. Çoruh Sok. No:32/1 Fulya, 34394 Şişli / Istanbul, Turkey
Monday - Friday 09:00 - 18:00 Saturday 09:00 - 14:00
