Premature ovarian failure

Premature ovarian insufficiency panel

This test is available for the following conditions:

• Conditions > Endocrine > Premature ovarian failure
• Conditions > Fertility and pregnancy > Premature ovarian insufficiency

Turnaround time
3 months

Method

• Exome analysis (WES or WGS data)

Remarks
Voor premature ovariële insufficiëntie (POI/POF) wordt vaak ook de volgende test besteld:

• Premature ovariële insufficiëntie (POI/POF) (chromosomenonderzoek)
• FMR1 - premature ovariële insufficiëntie (POI/POF)

The genes in this WES panel are also included in the WES panel Disorders/differences of sex development (DSD) / Primary adrenal insufficiency. This panel contains 35 genes.

Panel version: DG 3.8.1
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

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NR5A1 - premature ovarian failure

This test is available for the following conditions:

• Conditions > Endocrine > Premature ovarian failure

This product is also part of the following panels:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Male infertility panel
• Mendelian inherited 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

OMIM: 612964
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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