Premature ovarian failure

WES premature ovarian insufficiency

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

• Whole exome sequencing (WES)

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 32 genes.

Panel version: DG 3.6
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:

• WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
• WES male infertility (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES premature ovarian insufficiency (100.0% *)

* % 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

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

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premature ovarian insufficiency (chromosome analysis)

This test is available for the following conditions:

• Conditions > Endocrine > Premature ovarian failure
• Conditions > Genome-wide analysis > Premature ovarian failure

Turnaround time
4 weeks

Method

• Karyotyping

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

FMR1 - premature ovariële insufficiëntie (POI/POF)

Performing laboratory: Radboudumc
Authorized material(s): Heparin blood

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