PREIMPLANTATION GENETIC DIAGNOSIS IMPLEMENTATIONS
Preimplantation Genetic Implementations are procedures that provide genetic disorders’ testing before the embryo is transferred to uterus, in other words before pregnancy starts and an embryo which is fertilised in lab conditions is examined.
Embryos could be genetically tested before being transferred to the couples who have history of hereditary disease in their families and who want to have a baby with in vitro fertilisation (IVF). In Nesiller Genetik labs, Preimplantation Genetic Diagnosis (PGD) procedure can be applied to all diseases which have molecular diagnoses. All PGD implementations are performed with molecular methods at Nesiller Genetik Laboratories. That can also be applied to reciprocal translocation and Robertsonian translocation carriers.
That can also be applied to single genetic diseases such as Mediterranean Anemia, HLA, SMA, DMD For more detailed info about Preimplantation Genetic Diagnosis implementations please visit www.genetikvetupbebek.com web site.
The main caracteristics placing Nesiller Genetik ahead of the competition are;
- It studies with single cell in blastomer biopsy
- Almost all the hereditary diseases which can be detected by prenatal methods can also be detected by PGD.
- PGD is applied to any autosomal ressesive, autosomal dominant diseases or diseases with sex linked transitivity, as long as it is related to an identified gene. So far, 100 protocols are developed for single-gene diseases.
- It detects triple repetition diseases such as Fragile X syndrome, Myotonic Dystrophia or Huntington.
- It can develop special-purposed tests for rare diseases as long as related gene is detected.
- It can optimise PGD protocols for special requests and needs for all kinds of diseases and mutations.
- It can perform PGD for heritage of cancer liability and late-onset diseases.
- It certainly includes STR indicator to the tests in single-gene diseases.
- It uses mini sequencing for known mutations, linkage analysis or QF-PCR (Quantitative Fluorescence-Polymerase Chain Reaction) for unknown mutations in mutation analysis.
- In some cases, it makes aneuploidy scanning and mutation analysis together.
- It makes mutation scanning by sequencing related gene in phenomenons that responsible gene is unknown but clinic genetic diagnosis is done ;
- aneuploidy scanning for 11 chromosomes : 8, 9, 13, 15, 16, 17, 18, 21, 22, X, Y
- aneuploidy and instable translocation scanning at 3rd and 5th day biopsies with A-CGH and 24 chromosomes
- both structural (translocations) and quantitative (aneuploidy) chromosome anomalies’ detection at the same time in 24 chromosomes, 5th day biopsy from embryos with NGS.
NESİLLER GENETİK PGD TESTS
TEST NAME | ANALYSED AREA | RESULT RETURN |
---|---|---|
SINGLE GENE DISEASE SEQUENCE ANALYSIS | Thalassemia, Cystic Fibrosis. SMA, FMF and HLA Typing *No need for set-up, 15 days needed for family marker study. | 36 hours |
SINGLE GENE DISEASE SEQUENCE ANALYSIS | Other single-gene diseases; • Hemophilia A and B • Phenylketonuria • Fragile X • Rh Incompatibility • Others *Need set-up and average time for set-up is 8 weeks. | 36 hours |
SINGLE GENE DISEASE SEQUENCE ANALYSIS | HLA + Single Gene Disease • Thalassemia • Sickle Cell Anemia • Immune System Diseases etc. | 36 hours |
CHROMOSOMAL DISEASES (FISH) | Aneuploidy examination in embryos with FISH – 5 chromosomes (1-6 embryos) 13, 16, 18, 21, 22 veya 13, 18, 21, X, Y | 1 day |
CHROMOSOMAL DISEASES (FISH) | Aneuploidy examination in embryos with FISH – 5 chromosomes (7-12 embryos) 13, 16, 18, 21, 22 veya 13, 18, 21, X, Y | 1 day |
CHROMOSOMAL DISEASES (FISH) | PGD FISH 5 Chromosome (more than 12 embryos) | 1 day |
CHROMOSOMAL DISEASES (FISH) | Aneuploidy examination in embryos with FISH – 7 chromosomes (1-6 embryos) 13, 16, 18, 21, 22, X, Y | 2 days |
CHROMOSOMAL DISEASES (FISH) | Aneuploidy examination in embryos with FISH – 7 chromosomes (7-12 embryos) 13, 16, 18, 21, 22, X, Y | 2 days |
CHROMOSOMAL DISEASES (FISH) | PGD FISH 7 Chromosomes (more than 12 embryos) | 2 days |
CHROMOSOMAL DISEASES (FISH) | Aneuploidy examination in embryos with FISH – 9 chromosomes (1-6 embryos) 13, 15, 16, 17, 18, 21, 22, X, Y | 2 days |
CHROMOSOMAL DISEASES (FISH) | Aneuploidy examination in embryos with FISH – 9 chromosomes (7-12 embryos) 13, 15, 16, 17, 18, 21, 22, X, Y | 2 days |
CHROMOSOMAL DISEASES (FISH) | PGD FISH 9 Chromosomes (more than 12 embryos) | 2 days |
CHROMOSOMAL DISEASES (FISH) | FISH examination in couples carrying structural chromosome abnormalities • Reciprocal Translocation • Robertsonian Translocation • Insertional Translocation • Insertional Deletion • Insertional Duplication • Inversion | 1 day |
CHROMOSOMAL DISEASES (FISH) | FISH examination in X-inherited diseases • DMD/BMD • Hemophilia A • Hemophilia B etc | 1 day |
A-CGH ANEUPLOIDY SCANNING | In embryos – 24 chromosomes, quantitative and structural chromosome abnormalities | 15 days |
A-CGH ANEUPLOIDY SCANNING | In embryos – 24 chromosomes, quantitative and structural chromosome abnormalities (fresh embryo – at least 6 samples) | 48 hours |
A-CGH ANEUPLOIDY SCANNING | In embryos - 24 chromosomes, translocation, inversion, marker chromosome etc. | 15 days |
NGS ANEUPLOIDY SCANNING | In embryos – 24 chromosomes, quantitative and structural chromosome abnormalities | 15 days |
NGS ANEUPLOIDY SCANNING | In embryos - 24 chromosomes, translocation, inversion, marker chromosome etc. | 15 days |