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IllnessMultiple Acyl-CoA Dehydrogenase Deficiency, non-neonatal; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Multiple Acyl-CoA Dehydrogenase Deficiency, non-neonatal; differential diagnosis, comprising 6 core candidate genes and altogether 20 curated genes according to the clinical signs

ID
MP3331
Number of genes
20 Accredited laboratory test
Examined sequence length
7,8 kb (Core-/Core-canditate-Genes)
30,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ETFA1002NM_000126.4AR
ETFB768NM_001985.3AR
ETFDH1854NM_004453.4AR
SLC52A11347NM_001104577.2AD
SLC52A21338NM_024531.5AR
SLC52A31410NM_033409.4AR
ACADM1266NM_000016.6AR
ACADVL1968NM_000018.4AR
ALDOA1095NM_184041.5AR
CPT1A2322NM_001876.4AR
CPT21977NM_000098.3AR
ENO31305NM_053013.4AR
FLAD12021NM_001184891.2AR
LDHA999NM_005566.4AR
PFKM2343NM_000289.6AR
PGAM2762NM_000290.4AR
PGM11743NM_002633.3AR
PYGM2529NM_005609.4AR
SLC22A51674NM_003060.4AR
SLC25A20906NM_000387.6AR

Informations about the disease

Synonyms
  • Alias: Glutaric aciduria type 2, mild type
  • Alias: Multiple Acyl-CoA Dehydrogenase Deficiency, mild type
  • Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
  • Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
  • Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
  • Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
  • CPT II deficiency, infantile (CPT2)
  • CPT II deficiency, lethal neonatal (CPT2)
  • CPT II deficiency, myopathic, stress-induced (CPT2)
  • CPT deficiency, hepatic, type IA (CPT1A)
  • Carnitine deficiency, systemic primary (SLC22A5)
  • Carnitine-acylcarnitine translocase deficiency (SLC25A20)
  • Congenital disorder of glycosylation, type It (PGM1)
  • Fazio-Londe disease (SLC52A3)
  • Glutaric acidemia IIA (ETFA)
  • Glutaric acidemia IIB (ETFB)
  • Glutaric acidemia IIC (ETFDH)
  • Glycogen storage disease VII (PFKM)
  • Glycogen storage disease X (PGAM2)
  • Glycogen storage disease XI (LDHA)
  • Glycogen storage disease XII (ALDOA)
  • Glycogen storage disease XIII (ENO3)
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (FLAD1)
  • McArdle disease (PGYM)
  • Riboflavin deficiency (SLC52A1)
  • VLCAD deficiency (ACADVL)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined