VariFind™ AA Assay
NGS-based assay for detection of clinically significant genetic variants in 29 genes associated with aminoacidopathies
Assay information
Genes
PCBD1
AHCY
DLD
DBT
BCKDHB
OTC
SLC7A5
ASS1
SLC7A7
GSTZ1
SLC25A13
SLC25A15
GNMT
MTHFR
ASL
ARG1
BCKDHA
PC
HPD
MAT1A
PPM1K
PAH
QDPR
PTS
TAT
OAT
CBS
FAH
UMPS

Disorders
Hyperphenylalaninemia, BH4-deficient, D
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Dihydrolipoamide dehydrogenase deficiency
Maple syrup urine disease, type II
Maple syrup urine disease, type Ib
Ornithine transcarbamylase deficiency
Phenylketonuria
Citrullinemia
Lysinuric protein intolerance
[Maleylacetoacetate isomerase deficiency]
Citrullinemia, type II
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
Glycine N-methyltransferase deficiency
Homocystinuria due to MTHFR deficiency
Argininosuccinic aciduria
Argininemia
Maple syrup urine disease, type Ia
Pyruvate carboxylase deficiency
Tyrosinemia, type III
Methionine adenosyltransferase deficiency, autosomal recessive
Maple syrup urine disease, mild variant
Phenylketonuria
Hyperphenylalaninemia, BH4-deficient, C
Hyperphenylalaninemia, BH4-deficient, A
Tyrosinemia, type II
Gyrate atrophy of choroid and retina with or without ornithinemia
Homocystinuria, B6-responsive and nonresponsive types
Tyrosinemia, type I
Orotic aciduria
Analyzed region
CDSs + 20 bp padding
Target region size
108 kb
Number of amplicons
386 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
Tilda