17,20-lyase deficiency, isolated

CYP17A1 - isolated 17,20-lyase deficiency

This test is available for the following conditions:

• Conditions > Disorders in sex development > 17,20-lyase deficiency, isolated

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 (% *)
• Metabolic disorders panel (% *)
• Premature ovarian insufficiency 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 upon request or if only one variant has been found in an autosomal recessive disease.

OMIM: 609300
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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