Exome

WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency

Turnaround time
Regular: 3 months / Rapid: 15 working days
Performing laboratory
Radboudumc
€ 990

WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency




€ 990

WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency

This test is available for the following conditions:

  • Conditions > Disorders in sex development > Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (WES)
  • Conditions > Endocrine > Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (WES)

Turnaround time
Regular: 3 months / Rapid: 15 working days

Method

  • Whole exome sequencing (WES)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 149 genes.

There are mapping difficulties for the CYP21A2 gene in WES. To analyze variants in the CYP21A2 gene, a specific gene test is recommended.

The genes from the panels WES Hypogonadotropic hypogonadism and WES Premature Ovarian Insufficiency are included in this panel.

Panel version: DG 3.2
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA





€ 990