Pseudovaginal perineoscrotal hypospadias

SRD5A2 - pseudovaginal perineoscrotal hypospadias

This test is available for the following conditions:

• Conditions > Disorders in sex development > Pseudovaginal perineoscrotal hypospadias

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic 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 if only one variant has been found in an autosomal recessive disease.

OMIM: 264600
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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