Gene

NDP - Norrie disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 616

NDP - Norrie disease



€ 616

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:

  • Hearing impairment panel (including GJB2) (% *)
  • Intellectual disability panel (% *)
  • Mendelian inherited disorders panel (% *)
  • Vision disorders panel (% *)

* % 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)
Remarks
MLPA analysis only if patient is a woman.

OMIM: 300658
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 616