ErkrankungGastroenterologische neuromuskuläre Störungen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Gastroenterologische neuromuskuläre Störungen mit 11 bzw. 19 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP3300
Anzahl Gene
19
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,6 kb (Core-/Basis-Gene)
62,0 kb (Erweitertes Panel)
62,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACTG2 | 1131 | AD | |
CLMP | 1122 | AR | |
DES | 1413 | AD und/oder AR | |
IDS | 1653 | XLR | |
POLG | 3720 | AD und/oder AR | |
RET | 3345 | AD und/oder Dig und/oder Sus | |
RRM2B | 1272 | AD und/oder AR | |
SAMD9 | 4770 | AD und/oder AR und/oder SMu | |
SOX10 | 1401 | AD | |
TMEM70 | 324 | AR | |
TYMP | 1449 | AR | |
ATRX | 7479 | XL und/oder SMu und/oder Impr | |
DMD | 11058 | XLR | |
FLNA | 7920 | XL | |
GDNF | 636 | AD | |
L1CAM | 3774 | XLR und/oder Dig | |
LIG3 | 2850 | AR | |
PTEN | 1212 | AD und/oder SMu und/oder Sus | |
SCN11A | 5376 | AD |
Infos zur Erkrankung
Synonyme
- Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
- Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
- Allelic: CRASH syndrome (L1CAM)
- Allelic: Cardiac valvular dysplasia, XL (FLNA)
- Allelic: Cardiomyopathy, dilated, 1I (DES)
- Allelic: Cardiomyopathy, dilated, 3B (DMD)
- Allelic: Central hypoventilation syndrome (GDNF)
- Allelic: Central hypoventilation syndrome, congenital (RET)
- Allelic: Corpus callosum, partial agenesis of (L1CAM)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
- Allelic: FG syndrome 2 (FLNA)
- Allelic: Frontometaphyseal dysplasia 1 (FLNA)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Heterotopia, periventricular, 1 (FLNA)
- Allelic: Hydrocephalus due to aqueductal stenosis (L1CAM)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: MASA syndrome (L1CAM)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Medullary thyroid carcinoma (RET)
- Allelic: Melnick-Needles syndrome (FLNA)
- Allelic: Meningioma (PTEN)
- Allelic: Mitochondrial DNA depletion s. 8A [encephalomyopathic with renal tubulopathy] (RRM2B)
- Allelic: Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
- Allelic: Mitochondrial recessive ataxia syndrome (includes SANDO + SCAE (POLG)
- Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
- Allelic: Multiple endocrine neoplasia IIA (RET)
- Allelic: Multiple endocrine neoplasia IIB (RET)
- Allelic: Otopalatodigital syndrome, type I (FLNA)
- Allelic: Otopalatodigital syndrome, type II (FLNA)
- Allelic: Pheochromocytoma (RET)
- Allelic: Pheochromocytoma, modifier of (GDNF)
- Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
- Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
- Allelic: Prostate cancer, somatic (PTEN)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Allelic: Terminal osseous dysplasia (FLNA)
- Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
- Becker muscular dystrophy (DMD)
- Congenital short bowel syndrome (CLMP)
- Congenital short bowel syndrome (FLNA)
- Duchenne muscular dystrophy (DMD)
- Gut dysmotility, spasticity, ataxia, neurogenic bladder, mtDNA depletion [panelapp] (LIG3)
- Hirschsprung disease, protection against (RET)
- Hirschsprung disease, susceptibility to, 1 (RET)
- Hirschsprung disease, susceptibility to, 3 (GDNF)
- Hydrocephalus with Hirschsprung disease (L1CAM)
- Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
- Intestinal pseudoobstruction, neuronal (FLNA)
- MIRAGE syndrome (SAMD9)
- Mental retardation-hypotonic facies syndrome, XL (ATRX)
- Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
- Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
- Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
- Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
- Mucopolysaccharidosis II (IDS)
- Myopathy, myofibrillar, 1 (DES)
- Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
- Peripheral demyel. neuropathy, central dysmyel., Waardenburg . + Hirschsprung d. [PCWH] (SOX10)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
- Visceral myopathy (ACTG2)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu
- AD und/oder Dig und/oder Sus
- AD und/oder SMu und/oder Sus
- AR
- XL
- XL und/oder SMu und/oder Impr
- XLR
- XLR und/oder Dig
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G70.8
Bioinformatik und klinische Interpretation
Kein Text hinterlegt