VariFind™ FAO Assay
NGS-based assay for detection of clinically significant genetic variants in 20 genes associated with fatty acid β-oxidation disorders
Assay information
Genes
SLC22A5
CPT2
ACADVL
HADHA
HADHB
HADH
ACADM
CPT1A
CPT1B
SLC25A20
ETFB
ETFA
ETFDH
ACADS
DECR1
SLC52A1
SLC52A2
SLC52A3
FLAD1
ACAD9

Disorders
Carnitine deficiency, systemic primary
CPT II deficiency
VLCAD deficiency
Trifunctional protein deficiency
Trifunctional protein deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency, Hyperinsulinemic hypoglycemia, familial, 4
Deficiency of Acyl-CoA dehydrogenase, medium chain
CPT deficiency, hepatic, type IA
Carnitine palmitoyl transferase (L) deficiency
Carnitine-acylcarnitine translocase deficiency
Glutaric acidemia IIB
Glutaric acidemia IIA
Glutaric acidemia IIC
Deficiency of Acyl-CoA dehydrogenase, short-chain
Dienoyl reductase deficiency
Glutaric acidemia type II
Glutaric acidemia type II
Glutaric acidemia type II
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
Mitochondrial complex I deficiency due to ACAD9 deficiency
Analyzed region
CDSs + 20 bp padding
Target region size
79,8 kb
Number of amplicons
288 amplicons in 2 Pools
Coverage
99.53 %
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