| 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 15 |
| 4 | ACE Gene Mutation Analysis | ACE | • Cardiovascular Risk | Gel Electrophoresis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 21 |
| 7 | Alpha-1-Antitrypsin Deficiency | Protease Inhibitor (Pi) | • Alpha-1-Antitrypsin Deficiency (AAT) | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 10 |
| 8 | APOE Gene Allele Analysis | APOE | • Cardiovascular Risk | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 11 | ATP7B Gene Sequence Analysis | ATP7B | Wilson Disease | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 45 |
| 16 | BRCA1-2 Gene Deletion/Duplication | BRCA1 & BRCA 2 | Cancer | MLPA | Blood (EDTA) | EDTA Tube (purple cap) | 5 ML | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 17 | BTD Gene Sequence Analysis | BTD | Biotinidase Deficiency | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 21 |
| 18 | CALR (Calreticulin) Gene Mutation Analysis | CALR | Essential Thrombocythemia and Primary Myelofibrosis | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 24 | Connexin 26 Gene Mutation Analysis | Connexin 26 (Exon 2) | • Congenital Deafness | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 26 | CYP1A2 Mutation Analysis | CYP1A2 (*1C, *1F) | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 10 |
| 28 | CYP3A4 Mutation Analysis | CYP3A4 (*2) | • Drug Treatment Response • Dose Adjustment | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 7 |
| 42 | Factor V Leiden Mutation Analysis | Factor V | • Cardiovascular Risk - FVL Thrombophilia | Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 7 |
| 43 | Factor V Mutation Analysis | Factor V (H1299R) | • Cardiovascular Risk - FVL Thrombophilia | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 7 |
| 44 | Factor XIII Mutation Analysis | Factor XIII (V34L) | • Cardiovascular Risk - FXIII Deficiency | Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 46 | FGB Gene Mutation Analysis | FGB (Beta-Fibrinogen) (455G>A) | • Cardiovascular Risk | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 7 |
| 79 | FISH Analysis - LAMP1 Translocation | LAMP1 (13q34) | • Cancer | FISH Analysis | Bone Marrow (Heparin), Blood (Heparin) | Heparinized Blood (Green Cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 110 | GJB1 Gene Mutation Analysis | GJB1 (Whole Gene) | • Congenital Deafness | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 112 | GSTM1 Mutation Analysis | GSTM1 | • Drug Toxicity • Cancer Risk Analysis | Sequence Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 15 |
| 116 | HFE Gene Mutation Analysis | HFE (H63D and C282Y) | • Hemochromatosis | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 4-8°C, within 24h | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 10 |
| 121 | HLAB27 Gene Mutation Analysis | HLAB27 | • Autoimmune Diseases | Real-Time PCR | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 10 |
| 122 | HPA1 Gene Allele Analysis | HPA1 | • Cardiovascular Risk | Sequence Analysis | EDTA Blood | EDTA Tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 15 |
| 139 | Post-Bone Marrow (BM) Transplantation Monitoring | • Post-Transplant Success | Molecular | Blood (EDTA) / Bone Marrow (EDTA) | EDTA Tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 3-May | |
| 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 3-May |
| 142 | Chimerism Analysis - by PCR (Recipient - Donor) | STR Regions | • Post-BM Transplant Success | Fragment Analysis | Blood (EDTA) | EDTA Tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | Room temperature | 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 | Room temperature | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | Room temperature | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 7 |
| 170 | Microsatellite Instability (MSI) | DNA STR Regions | • HNPCC (Lynch Syndrome) Screening | Fragment Analysis | Blood (EDTA), FFPE | EDTA tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 174 | MTHFR Gene Mutation Analysis | MTHFR (C677T) | • Cardiovascular Risk | Real-Time PCR | EDTA Blood | EDTA tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 7 |
| 175 | MTHFR Gene Mutation Analysis | MTHFR (A1298C) | • Cardiovascular Risk | Real-Time PCR | EDTA Blood | EDTA tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 4 Weeks |
| 180 | NOTCH3 Gene Mutation Analysis | NOTCH3 (Exon 3,4) | • CADASIL | Sequence Analysis | EDTA Blood | EDTA tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 15 |
| 181 | NOTCH3 Gene Mutation Analysis | NOTCH3 (Exon 3,4,11,18,19) | • CADASIL | Sequence Analysis | EDTA Blood | EDTA tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 182 | Neurofibromatosis Type 1 | NF1 Deletion / Duplication | Suspected NF1 or family history | MLPA | Blood (EDTA) | EDTA tube (purple cap) | 5 ML | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 183 | Neurofibromatosis Type 1 | NF1 Targeted Gene Analysis | Suspected NF1 or family history | NGS | Blood (EDTA) | EDTA tube (purple cap) | 5 ML | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 184 | Neurofibromatosis Type 2 | NF2 Deletion / Duplication | Suspected NF2 diagnosis and differentiation | MLPA | Blood (EDTA) | EDTA tube (purple cap) | 5 ML | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 185 | Neurofibromatosis Type 2 | NF2 Targeted Gene Analysis | Suspected NF2 diagnosis and differentiation | NGS | Blood (EDTA) | EDTA tube (purple cap) | 5 ML | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 186 | NPM1 Gene Mutation Analysis | NPM1 (Exon 12) | • Cancer | Sequence Analysis | Blood (EDTA), Bone Marrow (EDTA) | EDTA tube (purple cap) | 2-3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 30 |
| 193 | Autoinflammatory Diseases Panel | 5-15 Genes | Autoinflammatory Diseases | Sequence Analysis | EDTA Blood | EDTA tube (purple cap) | 5 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 21 |
| 197 | PAI-1 Gene Mutation Analysis | PAI-1 (4G/5G) | • Cardiovascular Risk | Real-Time PCR | EDTA Blood | EDTA tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 4-8°C, within 24h | 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 | 4-8°C, within 24h | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 21 |
| 216 | SIGNATERA | 16 patient-specific mutations tracked | All Solid Tumors | NGS/Hybrid Capture | FFPE/Blood | EDTA tube (purple cap) | 2-3 mL | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 7 |
| 229 | TSC1-TSC2 Gene Sequence Analysis | TSC1-TSC2 | Tuberous Sclerosis | Sequence Analysis | Blood (EDTA) | EDTA tube (purple cap) | 2 - 3 ML | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 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 | 2-8°C, deliver within 24h. No direct ice contact. | 10 |
| 235 | Y CHROMOSOME MICRODELETION | Y Chromosome (24 STRs) | • Infertility | Fragment Analysis | EDTA Blood | EDTA tube (purple cap) | 2-3ML | 2-8°C, deliver within 24h. No direct ice contact. | 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, Şişli / Istanbul
Monday - Friday 09:00 - 18:00 Saturday 09:00 - 14:00
The content provided on this site is intended for informational purposes only and is not a substitute for professional medical advice or diagnosis. Always seek the advice of a qualified healthcare provider for any medical evaluation, diagnosis, or treatment.
All rights reserved © 2026. Explicit Consent Statement | Last Updated: 27.04.2026 14:00 / mowaffak@hotmail.com
