FMR1 - premature ovarian failure (POI/POF) ¹

This test is available for the following conditions:

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

This product is also part of the following panels:

  • WES intellectual disability (100.0% *)
  • WES Mendelian inherited disorders (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

  • Analysis of the number of repeats using fragment length analysis of (triple primed) PCR product and if necessary followed by Southern blot analysis

OMIM: 309550
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



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Exome

WES premature ovarian insufficiency

Turnaround time
3 months
Performing laboratory
Radboudumc
€ 750
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WES premature ovarian insufficiency



€ 750
Add

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: 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, Isolated DNA




€ 750
Add