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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessGAND syndrome

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Summary

Short information

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

ID
GS9870
Number of loci
Locus typeCount
Gen 1
Accredited laboratory test
Examined sequence length
1,8 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 +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GATAD2B1782NM_020699.4AD

Informations about the disease

Synonyms
  • Alias: GAND syndrome (GATAD2B)
  • Alias: GATAD2B-Associated Neurodevelopmental Disorder (GATAD2B)
  • Alias: Mental retardation, AD 18 (GATAD2B)
  • Alias: Schwere ID-reduziertes Sprachvermögen-Strabismus-grimass. Gesicht-lange Finger-Syndrom
  • Alias: Severe ID-poor language-strabismus-grimacing face-long fingers syndrome (GATAD2B)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined