VariFind™ METAB Assay
NGS assay for 2nd tier newborn screening of inherited metabolic disorders

Intended use: Confirmative diagnostics of results received by tandem mass spectrometry
Fatty acid β-oxidation disorder
Assay 1
Aminoacidopathies
Assay 2
Organic acidurias
Assay 3

Genes included
Assay 4
GALK1, GALE, GALT, BTD
Amino Acid & Vitamin B disorders
Galactosemia & hyperammonemia
Assay 5
DECR1 SLC52A1 SLC52A2 SLC52A3 FLAD1 ACAD9
CPT1A CPT1B SLC25A20 ETFB
ETFA ETFDH ACADS
SLC22A5 CPT2 ACADVL HADHA HADHB HADH ACADM
SLC25A13 SLC25A15 GNMT MTHFR ASL ARG1 BCKDHA PC HPD MAT1A
PPM1K PAH QDPR PTS TAT OAT CBS FAH UMPS
PCBD1 AHCY DLD DBT BCKDHB OTC SLC7A5 ASS1 SLC7A7 GSTZ1
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
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
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 analyis & annotation
Report generation
Made on
Tilda