CHD7 - CHARGE syndrome
This test is available for the following conditions:
- Conditions > Intellectual Disability > CHARGE syndrome
- Conditions > Multiple congenital anomalies (MCA) > CHARGE syndrome
- Conditions > Hearing impairment > CHARGE syndrome
- Conditions > Endocrine > CHARGE syndrome
- Conditions > Vision impairment / blindness > CHARGE syndrome
This product is also part of the following panels:
- WES congenital heartdisease ¹ (% *)
- WES craniofacial anomalies (% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
- WES hearing impairment (including GJB2) (% *)
- WES heart disorders¹ (% *)
- WES hypogonadotropic hypogonadism (Kallmann) (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- WES primary immunodeficiencies (% *)
- WES vision disorders (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
MLPA analysis only upon request.
OMIM:
608892
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane