VariFind™ DIAB Assay
NGS-based assay for detection of clinically significant genetic variants in 24 genes associated with different types of sugar intolerance

Intended use: diabetes differential diagnostics
Assay information
Genes included as CDS
GCK
HNF1A
HNF1B
INS
HNF4A
BLK
G6PC2
PDX1
INSR
KCNJ11
GLIS3
CEL

Genes included as hot-spots
ABCC8
NEUROG3
PAX4
FOXP3
KLF11
NEUROD1
NKX2-2
RFX6
ZFP57
HADH
GLUD1
SLC16A1
Associated conditions
Diabetes mellitus, permanent neonatal
Maturity onset diabetes of the young
Type 2 diabetes
Hyperinsulinemic hypoglycemia familial
Familial hyperinsulinism
Congenital hyperinsulinism and etc.
Analyzed region
CDS + UTRs, hot-spots
Target region size
104 kb
Platform
Illumina MiSeq Series
Thermo Fisher Scientific Ion PGM/S5
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