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

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: 2-3 months / Rapid: 15 working days

Method

Exome analysis (WES or WGS data)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

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-4.1.0

2025-01-21-DG-4-0-0
2024-05-21-DG-3-9-0
2024-02-25-DG-3-8-1
2023-08-31-DG-3-7-0
2023-04-05-DG-3-6-0
2022-12-05-DG-3-5-0
2022-04-19-DG-3-4-0
2022-01-13-DG-3-3-0
2021-09-16-DG-3-2-0
2021-03-23-DG-3-1-0
2020-12-02-DG-3-0-0

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 2-3 months

Trio/de novo analysis of proband and both parents - TAT: 2-3 months

Single analysis of proband only - TAT: 2-3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days This test is designed for prenatal anomalies, newborn or early childhood (severe/life-threatening) conditions or conditions in need of gene specific treatment options.

Rapid Single analysis of proband only - TAT: <15 business days This test is designed for severe/life-threatening conditions or conditions in need of gene-specific treatment options AND when trio/de novo analysis is not an option or common practice.

€ 750

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