Norrie disease

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 with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Vision disorders panel

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

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