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

IllnessMenke-Hennekam syndrome 2; Rubinstein-Taybi syndrome 2

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Menke-Hennekam ayndrome 2 or Rubinstein Taybi syndrome 2, respectively

ID
MS9567
Number of genes
1 Accredited laboratory test
Examined sequence length
7,3 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
EP3007245NM_001429.4AD

Informations about the disease

Clinical Comment

Menke-Hennekam syndrome-2 (MKHK2): variable impairment of intellectual development and facial dysmorphisms, feeding difficulties, autistic behavior, recurrent upper airway infections, hearing impairment

NO Orphanet# for MKHK2; Rubinstein-Taybi syndrome 2 (ORPHA:353284)!

 

Synonyms
  • Menke-Hennekam syndrome 2 (EP300)
  • Rubinstein-Taybi syndrome 2 (EP300)
Heredity, heredity patterns etc.
  • AD
ICD10 Code

Bioinformatics and clinical interpretation

No text defined