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

IllnessSANDD syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion SANDD syndrome

ID
SS0970
Number of genes
1 Accredited laboratory test
Examined sequence length
6,6 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
CACNA1D6546NM_000720.4AD, AR

Informations about the disease

Clinical Comment

Congenital severe/profound deafness with no vestibular dysfunction, associated sinoatrial node dysfunction, pronounced bradycardia, variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress; DD: Jervell + Lange-Nielsen syndromes

 

Synonyms
  • Allelic: Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
  • SANDD: SinoAtrial Node Dysfunction + Deafness (CACNA1D)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined