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



Short information

Curated single gene sequence analysis according to the clinical suspicion Choroideremia

Number of genes
1 Accredited laboratory test
Examined sequence length
2,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Choroideremia is characterized by progressive vision loss in affected males and milder symptoms in heterozygous (carrier) females. The first sign is usually night blindness, which can occur in early childhood. Progressive tunnel vision follows as well as decreased visual acuity due to cellular atrophy in the retina and the choroid. The impairment worsens variably over time, and all patients will develop blindness, most commonly in late adulthood. Mutations in the CHM gene cause choroideremia. Choroideremia is inherited in an X-linked recessive pattern. The molecular genetic diagnostic yield is not known at present. Hence a negative DNA test result does not exclude the ophthalmological diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1337/


  • Alias: Choroidal sclerosis (CHM)
  • Alias: Choroideremia (CHM)
  • Alias: Degeneration of choriocapillaris, retinal pigment epithelium, photoreceptors (CHM)
  • Alias: Progressive tapetochoroidal dystrophy (CHM)
  • Alias: Tapetochoroidal dystrophy, progressive; TCD (CHM)
Heredity, heredity patterns etc.
  • XL
ICD10 Code

Bioinformatics and clinical interpretation

No text defined