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Klinische FragestellungGastroenterologische neuromuskuläre Störungen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Gastroenterologische neuromuskuläre Störungen mit 11 bzw. 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP3300
Anzahl Gene
19 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,6 kb (Core-/Core-canditate-Gene)
62,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ACTG21131NM_001615.4AD
CLMP1122NM_024769.5AR
DES1413NM_001927.4AD, AR
IDS1653NM_000202.8XL
POLG3720NM_002693.3AR
RET3345NM_020975.6AD, AR
RRM2B1272NM_015713.5AR
SAMD94770NM_001193307.2AD
SOX101401NM_006941.4AD
TMEM70324NM_001040613.3AR
TYMP1449NM_001953.5AR
ATRX7479NM_000489.6XL
DMD11058NM_004006.3XLR
FLNA7920NM_001456.4XL
GDNF636NM_000514.4n.k.
L1CAM3774NM_000425.5XLR
LIG32850NM_002311.5AR
PTEN1212NM_000314.8n.k.
SCN11A5376NM_014139.3AD

Infos zur Erkrankung

Synonyme
  • AliAs: Mitochondrial DNA depletion syndrome 4B [MNGIE type]
  • Alias: Mitochondrial DNA maintenance defects
  • Alias: Mmitochondrial neurogastrointestinal encephalopathy (MNGIE)-like
  • Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
  • Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
  • Allelic: Aortic aneurysm, familial thoracic 6 (ACTA2)
  • 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: Moyamoya disease 5 (ACTA2)
  • 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)
  • Multisystemic smooth muscle dysfunction syndrome (ACTA2)
  • 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
  • AR
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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