IllnessCarnitine Palmitoyltransferase II Deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Carnitine Palmitoyltransferase II Deficiency comprising altogether 15 curated genes according to the clinical signs

CP9241

Number of genes

14 Accredited laboratory test

Examined sequence length

2,0 kb (Core-/Core-canditate-Genes)
50,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
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

Informations about the disease

Synonyms

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)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined