VariFind™ AAVB Assay
NGS-based assay for detection of clinically significant genetic variants in 28 genes associated with Amino acid and vitamin B defects
Assay information
Genes
ABCD4
ACSF3
AMN
CBS
CD320
CUBN
HCFC1
GIF
LMBRD1
MAT1A
MCEE
MMAA
ММAВ

MMACHC
MMADHC
MTHFR
MTR
MTRR
MUT
PCCA
PCCB
SUCLA2

SUCLG1

TCN1
TCN2
DHFR
SLC19A2
MTHFD1

Disorders
Methylmalonic aciduria and homocystinuria, cblJ type
Combined malonic and methylmalonic aciduria
Megaloblastic anemia-1, Norwegian type
Homocystinuria, B6-responsive and nonresponsive types
Methylmalonic aciduria, transient, due to transcobalamin receptor defect
Megaloblastic anemia-1, Finnish type
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type)
Intrinsic factor deficiency
Methylmalonic aciduria and homocystinuria, cblF type
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
Methylmalonyl-CoA epimerase deficiency 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, cblD type
Homocystinuria due to MTHFR deficiency
Homocystinuria-megaloblastic anemia, cblG complementation type
Homocystinuria-megaloblastic anemia, cbl E type
Methylmalonic aciduria, mut(0) type
Propionicacidemia
Propionicacidemia
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
Transcobalamin I deficiency
Transcobalamin II deficiency
Megaloblastic anemia due to dihydrofolate reductase deficiency
Thiamine-responsive megaloblastic anemia syndrome
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Analyzed region
CDSs + 20 bp padding
Target region size
142 kb
Number of amplicons
507 amplicons in 2 Pools
Coverage
99.9 %
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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