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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTG21131AD
CLMP1122AR
DES1413AD und/oder AR
IDS1653XLR
POLG3720AD und/oder AR
RET3345AD und/oder Dig und/oder Sus
RRM2B1272AD und/oder AR
SAMD94770AD und/oder AR und/oder SMu
SOX101401AD
TMEM70324AR
TYMP1449AR
ATRX7479XL und/oder SMu und/oder Impr
DMD11058XLR
FLNA7920XL
GDNF636AD
L1CAM3774XLR und/oder Dig
LIG32850AR
PTEN1212AD und/oder SMu und/oder Sus
SCN11A5376AD

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

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