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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessAllan-Herndon-Dudley syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Allan-Herndon-Dudley syndrome comprising 5 curated genes

ID
AP8883
Number of genes
5 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
6,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SLC16A21620NM_006517.5XL
GJC21320NM_020435.4AR
MECP21461NM_004992.4XL
PLP1834NM_000533.5XLR
THRA1233NM_199334.5AD

Informations about the disease

Synonyms
  • Alias: Monocarboxylate transporter 8 deficiency (SLC16A2)
  • Alias: XL intellectual disability-hypotonia syndrome (SLC16A2)
  • Allelic: Autism susceptibility, XL 3 (MECP2)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Encephalopathy, neonatal severe (MECP2)
  • Hypothyroidism, congenital, nongoitrous, 6 (THRA)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Mental retardation, XL syndromic, Lubs type (MECP2)
  • Mental retardation, XL, syndromic 13 (MECP2)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Rett syndrome (MECP2)
  • Rett syndrome, preserved speech variant (MECP2)
  • Spastic paraplegia 2, XL (PLP1)
  • Spastic paraplegia 44, AR (GJC2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined