Klinische FragestellungCarnitin-Palmitoyl-Transferase II-Mangel, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Carnitin-Palmitoyl-Transferase II-Mangel mit zusammen genommen 15 kuratierten Genen gemäß klinischer Verdachtsdiagnose

CP9241

Anzahl Loci

Locus-Typ	Anzahl
Gen	14

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

2,0 kb (Core-/Core-canditate-Gene)
50,2 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS v +

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
CPT2	1977	600650	NM_000098.3	AD, AR
AMPD1	2343	102770	NM_000036.3	AR
CACNA1S	5622	114208	NM_000069.3	AD, AR
CPT1A	2322	600528	NM_001876.4	AR
DMD	11058	300377	NM_004006.3	XLR
ETFA	1002	608053	NM_000126.4	AR
ETFB	768	130410	NM_001985.3	AR
ETFDH	1854	231675	NM_004453.4	AR
PFKM	2343	610681	NM_000289.6	AR
PYGM	2529	608455	NM_005609.4	AR
RYR1	15117	180901	NM_000540.3	AD
SLC25A20	906	613698	NM_000387.6	AR
STAC3	1095	615521	NM_145064.3	AR
TANGO2	1252	616830	NM_152906.7	AR

Infos zur Erkrankung

Synonyme

Alias: CPT2 deficiency
Alias: Carnitine palmitoyltransferase 2 deficiency
Allelic: Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
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 (SLC25A2)
Central core disease (RRYR1)
Duchenne/Becker muscular dystrophy (DMD)
Glutaric acidemia IIA (ETFA)
Glutaric acidemia IIB (ETFB)
Glutaric acidemia IIC (ETFDH)
Glycogen storage disease VII (PFKM)
Hypokalemic periodic paralysis, type 1 (CACNA1S)
King-Denborough syndrome (RYR1)
McArdle disease (PYGM)
Metabolic encephalomyop. crises, recurrent, rhabdomyol., cardiac arrhythm., neurodegener. (TANGO2)
Myopathy due to myoadenylate deaminase deficiency (AMPD1)
Myopathy, congenital, Baily-Bloch (STAC3)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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