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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 (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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WES premature ovarian insufficiency

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

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

Rapid Single analysis of proband only - TAT: <15 business days

€ 750

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NR5A1 - premature ovarian failure

GEN

complete analysis

targeted analysis of a familial mutation

€ 368

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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

GEN

complete analysis

targeted analysis of a familial mutation

€ 368

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premature ovarian insufficiency (chromosome analysis)

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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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

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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