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

IllnessHearing loss, X-linked; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Deafness, X-linked, comprising 7 or altogether 9 curated genes according to the clinical signs

ID
TP0102
Number of genes
8 Accredited laboratory test
Examined sequence length
14,6 kb (Core-/Core-canditate-Genes)
16,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AIFM11842NM_004208.4XLR
COL4A55058NM_000495.5XL
COL4A65076NM_001847.4XLR
POU3F41086NM_000307.5XLR
PRPS1957NM_002764.4XLR
SMPX267NM_014332.3XL
TIMM8A294NM_004085.4XLR
TBX221563NM_001109878.2XL

Informations about the disease

Clinical Comment

The most frequent form of sensorial deficit. In the vast majority, deafness is termed nonsyndromic/isolated, hearing loss is the only clinical anomaly; in developed counties, 60-80% of cases of early-onset hearing loss are genetic (ORPHA 87884)

 

Synonyms
  • Alias: Deafness, hearing impairment
  • Alias: Schwerhörigkeit, Hörverlust, Taubheit
  • Alias: Schwerhörigkeit, nicht-syndromale sensorineurale, X-chromosomale, Typ DFN
  • Alias: XL isolated neurosensory deafness type DFN
  • Alias: XL isolated neurosensory hearing loss type DFN
  • Alias: XL isolated sensorineural deafness type DFN
  • Alias: XL isolated sensorineural hearing loss type DFN
  • Alias: XL non-syndromic neurosensory deafness type DFN
  • Alias: XL non-syndromic neurosensory hearing loss type DFN
  • Alias: XL non-syndromic sensorineural deafness type DFN
  • Alias: XL non-syndromic sensorineural hearing loss type DFN
  • Abruzzo-Erickson syndrome (TBX22)
  • Allelic: Cone-rod dystrophy, XL, 1 (RPGR)
  • Allelic: Macular degeneration, XL atrophic (RPGR)
  • Allelic: Retinitis pigmentosa 3 (RPGR)
  • Alport syndrome 1, XL (COL4A5, COL4A6)
  • Arts syndrome PRPS1)
  • Deafness, XL 1 PRPS1)
  • Deafness, XL 2 (POU3F4)
  • Deafness, XL 4 (SMPX)
  • Deafness, XL 5 (AIFM1)
  • Mohr-Tranebjaerg syndrome (TIMM8A)
  • Retinitis pigmentosa, XL, sinorespiratory infections, +/- deafness (RPGR)
Heredity, heredity patterns etc.
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H90.5

Bioinformatics and clinical interpretation

No text defined