Klinische FragestellungAhornsirup-Krankheit, Differentialdiagose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Ahornsirup-Krankheit mit 7 Leitlinien-kuratierten bzw. zusammen genommen 30 kuratierten Genen gemäß klinischer Verdachtsdiagnose

AP3929

Anzahl Gene

30 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

5,5 kb (Core-/Core-canditate-Gene)
43,9 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
BCKDHA	1338	608348	NM_000709.4	AR
BCKDHB	1179	248611	NM_000056.5	AR
DBT	1449	248610	NM_001918.5	AR
DLD	1530	238331	NM_000108.5	AR
ACAT1	1284	607809	NM_000019.4	AR
AMT	1212	238310	NM_000481.4	AR
ARG1	969	608313	NM_000045.4	AR
ASL	1395	608310	NM_000048.4	AR
ASS1	1239	603470	NM_000050.4	AR
CA5A	918	114761	NM_001739.2	AR
CPS1	4503	608307	NM_001122633.3	AR
FAH	1260	613871	NM_000137.4	AR
GALT	1140	606999	NM_000155.4	AR
GCSH	522	238330	NM_004483.5	AR
GLDC	3063	238300	NM_000170.3	AR
GLUD1	1677	138130	NM_005271.5	AD
IVD	1182	607036	NM_001159508.3	AR
MCEE	531	608419	NM_032601.4	AR
MMAA	1257	607481	NM_172250.3	AR
MMAB	753	607568	NM_052845.4	AR
MMADHC	891	611935	NM_015702.3	AR
MMUT	2253	609058	NM_000255.4	AR
NAGS	1605	608300	NM_153006.3	AR
OAT	1320	613349	NM_000274.4	AR
OTC	1065	300461	NM_000531.6	XLR
PCCA	2187	232000	NM_000282.4	AR
PCCB	1620	232050	NM_000532.5	AR
SLC25A13	2031	603859	NM_001160210.2	AR
SLC25A15	906	603861	NM_014252.4	AR
SLC7A7	1536	603593	NM_001126105.3	AR

Infos zur Erkrankung

Synonyme

Alias: Alpha-Ketosäuredecarboxylase-Mangel
Alias: BCKD deficiency
Alias: BCKD-Mangel
Alias: BCKDH-Mangel
Alias: Branched-chain 2-ketoacid dehydrogenase deficiency
Alias: Branched-chain alpha-keto acid dehydrogenase deficiency
Alias: Branched-chain ketoaciduria
Alias: Ketoacidemia
Alias: Verzweigtkettenketoazidurie
Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
Alpha-methylacetoacetic aciduria (ACAT1)
Argininemia (ARG1)
Argininosuccinic aciduria (ASL)
Carbamoylphosphate synthetase I deficiency (CPS1)
Citrullinemia (ASS1)
Citrullinemia, adult-onset type II (SLC25A13)
Citrullinemia, type II, neonatal-onset (SLC25A13)
Dihydrolipoamide dehydrogenase deficiency (DLD)
Galactosemia (GALT)
Glycine encephalopathy (AMT, GCSH, GLDC)
Gyrate atrophy of choroid + retina with/-out ornithinemia (OAT)
Homocystinuria, cblD type, variant 1 (MMADHC)
Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
Hyperinsulinism-hyperammonemia syndrome (GLUD1)
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
Isovaleric acidemia (IVD)
Lysinuric protein intolerance (SLC7A7)
Maple syrup urine disease, type II (DBT)
Maple syrup urine disease, type Ia (BCKDHA)
Maple syrup urine disease, type Ib (BCKDHB)
Methylmalonic aciduria + homocystinuria, cblD type (MMADHC)
Methylmalonic aciduria, cblD type, variant 2 (MMADHC)
Methylmalonic aciduria, mut(0) type (MMUT)
Methylmalonic aciduria, vitamin B12-responsive, cblA type (MMAA)
Methylmalonic aciduria, vitamin B12-responsive, cblB type (MMAB)
Methylmalonyl-CoA epimerase deficiency (MCEE)
N-acetylglutamate synthase deficiency (NAGS)
Ornithine transcarbamylase deficiency (OTC)
Propionicacidemia (PCCA, PCCB)
Tyrosinemia, type I (FAH)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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