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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGastroenterologic neuromuscular disorders, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for gastroenterologic neuromuscular disorders comprising 11 or 20 curated genes, respectively, according to the clinical signs

ID
GP3300
Number of genes
19 Accredited laboratory test
Examined sequence length
21,6 kb (Core-/Core-canditate-Genes)
62,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACTG21131AD
CLMP1122AR
DES1413AD, AR
IDS1653XL
POLG3720AR
RET3345AD, AR
RRM2B1272AR
SAMD94770AD
SOX101401AD
TMEM70324AR
TYMP1449AR
ATRX7479XL
DMD11058XLR
FLNA7920XL
GDNF636n.k.
L1CAM3774XLR
LIG32850AR
PTEN1212n.k.
SCN11A5376AD

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G70.8

Bioinformatics and clinical interpretation

No text defined