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

IllnessShort bowel syndrome, congenital

Request form illness

Summary

Short information

KP7746_KI

ID
KP7746
Number of genes
2 Accredited laboratory test
Examined sequence length
9,1 kb (Core-/Core-canditate-Genes)
- (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-GReferenz-Seq.Heredity
CLMP1122NM_024769.5AR
FLNA7920NM_001456.4XL

Informations about the disease

Synonyms
  • Alias: Congenital short bowel syndrome
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: Heterotopia, periventricular, 1 (FLNA)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Otopalatodigital syndrome, type I (FLNA)
  • Allelic: Otopalatodigital syndrome, type II (FLNA)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Congenital short bowel syndrome (CLMP)
  • Congenital short bowel syndrome (FLNA)
Heredity, heredity patterns etc.
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined