Klinische FragestellungMultipler Acyl-CoA-Dehydrogenase-Mangel, nicht-neonatal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Multipler Acyl-CoA Dehydrogenase Mangel, nicht-neonatal; Differentialdiagnose, mit 6 "core candidate!-Genen bzw. zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose

MP3331

Anzahl Loci

Locus-Typ	Anzahl
Gen	20

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

7,8 kb (Core-/Core-canditate-Gene)
30,7 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
ETFA	1002	608053	NM_000126.4	AR
ETFB	768	130410	NM_001985.3	AR
ETFDH	1854	231675	NM_004453.4	AR
SLC52A1	1347	607883	NM_001104577.2	AD
SLC52A2	1338	607882	NM_024531.5	AR
SLC52A3	1410	613350	NM_033409.4	AR
ACADM	1266	607008	NM_000016.6	AR
ACADVL	1968	609575	NM_000018.4	AR
ALDOA	1095	103850	NM_184041.5	AR
CPT1A	2322	600528	NM_001876.4	AR
CPT2	1977	600650	NM_000098.3	AR
ENO3	1305	131370	NM_053013.4	AR
FLAD1	2021	610595	NM_001184891.2	AR
LDHA	999	150000	NM_005566.4	AR
PFKM	2343	610681	NM_000289.6	AR
PGAM2	762	612931	NM_000290.4	AR
PGM1	1743	171900	NM_002633.3	AR
PYGM	2529	608455	NM_005609.4	AR
SLC22A5	1674	603377	NM_003060.4	AR
SLC25A20	906	613698	NM_000387.6	AR

Infos zur Erkrankung

Synonyme

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)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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