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

IllnessL1-Syndrom, Differentialdiagnose

Request form illness
Order shipping materials

Summary

Short information

Comprehensive differential diagnostic panel for L1 syndrome comprising 4 curated genes according to the clinical signs (plus extended DD)

ID
LP7118
Number of loci
Loci typeCount
Gen4
Accredited laboratory test
Examined sequence length
3,8 kb (Core-/Core-canditate-Genes)
21,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
L1CAM3774NM_000425.5XLR
CCDC88C6087NM_001080414.4AD, AR
MPDZ6126NM_003829.5AR
WDR815826NM_001163809.2AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_LP7118

 

Synonyms
  • Alias: CRASH syndrome (L1CAM)
  • Alias: Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
  • Alias: L1CAM syndrome
  • Alias: MASA syndrome )L1CAM)
  • Allelic: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (WDR81)
  • Hydrocephalus due to aqueductal stenosis (L1CAM)
  • Hydrocephalus with Hirschsprung disease (L1CAM)
  • Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
  • Hydrocephalus, congenital, 1 (CCDC88C)
  • Hydrocephalus, congenital, 2, with/-out brain or eye anomalies (MPDZ)
  • Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined