VariFind™ IVF-CS Assay
NGS-based assay for detecting of clinically significant genetic variants associated with 19 severe genetic disorders

Intended use: carrier screening of IVF donors and couples planning family
Assay information
Genes
APC
ATP7B
BRCA1/BRCA2
CFTR
DMD
DMPK
F8
GBA
HBB
HEXA
HTT
IDUA
MUTYH
PAH
PKD1
PKD2
PMP22
VHL

Disorders
Familial adenomatous polyposis type I
Wilson's disease
Hereditary breast–ovarian cancer syndrome
Cystic Fibrosis
Duchenne muscular dystrophy
Myotonic dystrophy type I
Haemophilia A
Gaucher's disease type I
Beta thalassemia/Sickle-cell disease
Tay–Sachs disease
Huntington's disease
Mucopolysaccharidosis I
Familial adenomatous polyposis type II
Phenylketonuria
Autosomal dominant polycystic kidney disease type 1
Autosomal dominant polycystic kidney disease type 2
Charcot–Marie–Tooth disease type 1A
Von Hippel–Lindau disease
Analyzed region
Coding part of the gene
Target region size
22 kb
Specific features
Included to design: CFTRdele2-3, PAHdele5*
Detects poly-T/TG-repeats
*do not require confirmation via MLPA
Platform
Illumina MiSeq Series
Product composition
Reagents kit
Targeted enrichment , library preparation, molecular barcoding
VariFind™ Software for
MPS data analysis & variants annotation
Assay workflow
NGS Libraries Preparation
Sequencing
Automated data analyis & annotation
Report generation
Made on
Tilda