NDP - Norrie disease
This test is available for the following conditions:
- Conditions > Intellectual Disability > Norrie disease
- Conditions > Multiple congenital anomalies (MCA) > Norrie disease
- Conditions > Vision impairment / blindness > Norrie disease
This product is also part of the following panels:
- WES hearing impairment (including GJB2) (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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
- Deletion/duplication analysis (MLPA)
MLPA analysis only if patient is a woman.
OMIM:
300658
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane