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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessMakula-Dystrophie, okkulte

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Summary

Short information

MS7485_KI

ID
MS7485
Number of loci
Loci typeCount
Gen1
Accredited laboratory test
Examined sequence length
7,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

MS7485_DH

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
RP1L17203NM_178857.6AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_MS7485

 

Synonyms
  • Alias: Central cone dystrophy
  • Alias: Zentrale Zapfendystrophie
  • Allelic: Retinitis pigmentosa 88 (RP1L1)
  • Occult macular dystrophy (RP1L1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined