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:

  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis

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

Premature ovarian insufficiency panel

Turnaround time
3 months
Performing laboratory
Radboudumc
€ 750
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Premature ovarian insufficiency panel



€ 750
Add

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: 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-4.0.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)




€ 750
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