Choroideremia is an X-linked ocular disorder that leads to the degeneration of the choriocapillaris, retinal pigment epithelium, and the retinal photoreceptor of the eye due to mutations in the CHM gene, which encodes Rab escort protein-1 (REP1).
Mutation screening of the CHM gene is available for male patients with a suspected diagnosis of choroideremia. Mutation scanning of obligate carrier females may also be considered. Please contact the laboratory before referring females for mutation scanning. Pre-symptomatic, carrier testing and prenatal diagnosis are available in families with a previously identified mutation. Confirmation of mutations identified in research laboratories.
Mutation scanning by bi-directional Sanger sequencing of all coding exons of the CHM gene. MLPA testing is undertaken in males with normal sequencing results and for female index cases. A proportion of missense changes cannot be classified in which case we may request further family studies.
Price & reporting times
|Test||Price NHS (£)||Price non- NHS (£)||TRT (calendar days)|
|Single mutation test||POA||POA||28|
|Urgent/Predictive single mutation test||POA||POA||14|
Test validation & quality assurance - information for users
4ml EDTA blood sample
Please see our referral guidelines for more information.
OMIM Number(s) - 303100
Gene(s) - CHM