VARIFIND™ IVF-CS ASSAY

Reproductive Genetics

The assay for genetic carrier screening in IVF
donors and couples planning a family
VARIFIND™ IVF-CS
ASSAY:

MPS-based application for detection of clinically significant mutations, associated with 18 severe genetic disorders
Reagents
Reagents for targeted sequencing are supplied with an assay.
Samples
Analyte is a human genomic
DNA isolated from blood.
Technology
The assay is compatible
with MiSeq (Illumina).
Diseases screened
List of 18 severe genetic disorders.
Autosomal dominant polycystic kidney disease types I and II (PKD1, PKD2)
Beta thalassemia (HBB)
Charcot–Marie–Tooth disease type 1A (PMP22)
Cystic fibrosis (CFTR)
Duchenne muscular dystrophy (DMD)
Familial adenomatous polyposis type I (APC)
Familial adenomatous polyposis type II (MUTYH)
Gaucher's disease type I (GBA)
Haemophilia A (F8)



Hereditary breast–ovarian cancer syndrome (BRCA1, BRCA2)
Huntington's disease (HTT)
Mucopolysaccharidosis I, or Hurler syndrome (IDUA)
Myotonic dystrophy type I (DMPK)
Phenylketonuria (PAH)
Sickle-cell disease (HBB)
Tay–Sachs disease (HEXA)
Von Hippel–Lindau disease (VHL)
Wilson's disease (ATP7B)
Database contains
>16 000

Clinically significant genetic variants including SNPs, indels, CNVs, STRs
19

Genes
Database

Database includes genetic variants from:
- pubic databases (ClinVar, dbSNP, OMIM);
- locus-specific databases (ARUP, CHAMP, F8DB, HbVar, HEXAdb, IPNMdb, Npdenovo, PKDB, UMD-APC, UMD-ATP7B, UMD-DMD, UMD-VHL, WDMD);
- clinical guidelines by ACGS, ACMG, ACOG, CMGS, EMQN, etc.


Software

The software for data analysis is supplied with the test-system.
Integrated database for data annotation is manually curated.
Read more about the VariFind Software.

Bioinformatics and data analysis

Data analysis and primary annotation is proceeded automatically;
software allows to detect STRs (Short Tandem Repeats);
bioinformatician-free workflow;
genomic data interpretation specialist is strongly recommended;
clinical interpretation of the report should be done by a geneticist.

In partnership with Next Generation Clinic
VariFind IVF-CS assay for MiSeq Series System,
48 samples
VariFind IVF-CS assay for MiSeq Series System,
24 samples
Made on
Tilda