IllnessMultiple Acyl-CoA Dehydrogenase Deficiency, neonatal; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Multipler Acyl-CoA Dehydrogenase Deficiency, neonatal comprising 3 core candidate genes and altogether 18 curated genes according to the clinical signs

MP3330

Number of genes

18 Accredited laboratory test

Examined sequence length

3,7 kb (Core-/Core-canditate-Genes)
30,6 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ETFA	1002	608053	NM_000126.4	AR
ETFB	768	130410	NM_001985.3	AR
ETFDH	1854	231675	NM_004453.4	AR
ACADVL	1968	609575	NM_000018.4	AR
ASL	1395	608310	NM_000048.4	AR
ASS1	1239	603470	NM_000050.4	AR
CPS1	4503	608307	NM_001122633.3	AR
CPT1A	2322	600528	NM_001876.4	AR
CPT2	1977	600650	NM_000098.3	AR
FLAD1	2021	610595	NM_001184891.2	AR
HADHA	2292	600890	NM_000182.5	AR
HADHB	1425	143450	NM_000183.3	AR
OTC	1065	300461	NM_000531.6	XLR
SLC22A5	1674	603377	NM_003060.4	AR
SLC25A20	906	613698	NM_000387.6	AR
SLC52A1	1347	607883	NM_001104577.2	AD
SLC52A2	1338	607882	NM_024531.5	AR
SLC52A3	1410	613350	NM_033409.4	AR

Informations about the disease

Synonyms

Alias: Glutaric aciduria type 2, severe neonatal type
Alias: Multiple Acyl-CoA Dehydrogenase Deficiency, severe neonatal type
Alias: Multiple Acyl-CoA Dehydrogenase deficiency, severe neonatal type
Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
Allelic: Fatty liver, acute, of pregnancy (HADHA)
Allelic: HELLP syndrome, maternal, of pregnancy (HADHA)
Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
Argininosuccinic aciduria (ASL)
Brown-Vialetto-Van Laere syndrome 1 (SLC26A3)
Brown-Vialetto-Van Laere syndrome 2 (SLC25A2)
CPT II deficiency, infantile (CPT2)
CPT II deficiency, lethal neonatal (CPT2)
CPT II deficiency, myopathic, stress-induced (CPT2)
CPT deficiency, hepatic, type IA (CPT1A)
Carbamoylphosphate synthetase I deficiency (CPS1)
Carnitine deficiency, systemic primary (SLC22A5)
Carnitine-acylcarnitine translocase deficiency (SLC25A20)
Citrullinemia (ASS1)
Fazio-Londe disease (SLC25A3)
Glutaric acidemia IIA (ETFA)
Glutaric acidemia IIB (ETFB)
Glutaric acidemia IIC (ETFDH)
LCHAD deficiency (HADHA)
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (FLAD1)
Mitochondrial trifunctional protein deficiency (HADHA)
Ornithine transcarbamylase deficiency (OTC)
Riboflavin deficiency (SLC25A1)
Trifunctional protein deficiency (HADHB)
VLCAD deficiency (ACADVL)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined