©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessShort bowel syndrome, congenital

Request form illness
Order shipping materials

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
Test 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