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
Assay workflow
NGS Libraries Preparation
Sequencing
Automated data analyis & annotation
Report generation
Sequencing conditions
The recommended length cycling format for sequencing libraries prepared using VariFind™ DIAB assay IL-v1 is 500 and 600-cycle run in paired-end mode.
Assay is compatible with Illumina™ MiSeq® Series Systems (MiSeq®, MiSeq® Dx, MiSeq® FGx in research mode).

MiSeq Reagent Kit v2
Cycles
Output
Output in reads
Reads per sample
Max. sample/run
500
2 x 250 bp
15 000 000
≈ 540 000
50

MiSeq Reagent Nano Kit v2
Cycles
Output
Output in reads
Reads per sample
Max. sample/run
500
2 x 250 bp
1 000 000
≈ 540 000
4

MiSeq Reagent Kit v3
Cycles
Output
Output in reads
Reads per sample
Max. sample/run
600
2 x 300 bp
25 000 000
≈ 540 000
87
Made on
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