IllnessChoroideremia

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Choroideremia

CS0290

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

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CHM	1962	300390	NM_000390.4	XL

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/

Synonyms

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.

OMIM-Ps

303100

ICD10 Code

Bioinformatics and clinical interpretation

No text defined