VariFind™ AO Assay
NGS-based assay for detection of clinically significant genetic variants in 31 genes associated with organic acidurias
Assay information
Genes
GCDH
SUGCT
IVD
ACAT1
HMGCS1
HMGCS2
HMGCL
PCCB
PCCA
MUT
MMAA
MMAB

MMACHC
LMBRD1
HLCS
BTD
MMADHC
AUH
TAZ
OPA3
DNAJC19
ACADSB
MLYCD
MCCC1
MCCC2
ACAD8
SERAC1
ETHE1
HIBCH
SUCLA2
TMEM70

Disorders
Glutaricaciduria, type I
Glutaric aciduria III
Isovaleric acidemia
Alpha-methylacetoacetic aciduria
HMG-aciduria
HMG-CoA synthase-2 deficiency
HMG-CoA lyase deficiency
Propionicacidemia
Propionicacidemia
Methylmalonic aciduria, mut(0) type
Methylmalonic aciduria, vitamin B12-responsive
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Methylmalonic aciduria and homocystinuria, cblC type
Methylmalonic aciduria and homocystinuria, cblF type
Holocarboxylase synthetase deficiency
Biotinidase deficiency
Methylmalonic aciduria and homocystinuria, cblD type
3-methylglutaconic aciduria, type I
Barth syndrome
3-methylglutaconic aciduria, type III
3-methylglutaconic aciduria, type V
2-methylbutyrylglycinuria
Malonyl-CoA decarboxylase deficiency
3-Methylcrotonyl-CoA carboxylase 1 deficiency
3-Methylcrotonyl-CoA carboxylase 2 deficiency
Isobutyryl-CoA dehydrogenase deficiency
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Ethylmalonic encephalopathy
3-hydroxyisobutryl-CoA hydrolase deficiency
Mitochondrial DNA depletion syndrome 5
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Analyzed region
CDSs + 20 bp padding
Target region size
115 kb
Number of amplicons
403 amplicons in 2 Pools
Coverage
99.73 %
Analytical sensitivity Analytical specificity
99.90%
99.90%
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 analysis & annotation
Report generation
Made on
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