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 with genome wide CNV analysis
  • Metabolic disorders panel
  • Premature ovarian insufficiency 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 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



€ 377
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Gene

CYP17A1 - isolated 17,20-lyase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377
View Add

CYP17A1 - isolated 17,20-lyase deficiency


€ 377
Add