WDR11 - autosomal dominant hypogonadotropic hypogonadism type 14 (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES intellectual disability (% *)
  • WES Mendelian inherited disorders (% *)

* % 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: 606417
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550

Exome

WES hypogonadotropic hypogonadism (Kallmann)

Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Performing laboratory
Radboudumc
€ 750

WES hypogonadotropic hypogonadism (Kallmann)




€ 750

WES hypogonadotropic hypogonadism (Kallmann)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia
  • Conditions > Endocrine > Kallmann syndrome

Turnaround time
Regular: 2-3 months / Rapid: 15 working days

Method

  • Whole exome sequencing (WES)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 50 genes.

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

Panel version: DG 3.7
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750
Gene

DUSP6 - autosomal dominante hypogonadotropic hypogonadism type 19 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

DUSP6 - autosomal dominante hypogonadotropic hypogonadism type 19 (only familial mutation testing)



€ 336

DUSP6 - autosomal dominante hypogonadotropic hypogonadism type 19 (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)
  • WES skin disorders¹ (% *)

* % 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: 602748
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

GNRH1 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

GNRH1 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)



€ 344

GNRH1 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)

* % 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
  • Deletion/duplication analysis (MLPA)

OMIM: 152760
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

GNRHR - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

GNRHR - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)



€ 344

GNRHR - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)

* % 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
  • Deletion/duplication analysis (MLPA)

OMIM: 138850
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

KISS1 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

KISS1 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)



€ 336

KISS1 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)

* % 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: 603286
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

KISS1R - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352

KISS1R - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)



€ 352

KISS1R - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)

* % 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
  • Deletion/duplication analysis (MLPA)

OMIM: 604161
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 352
Gene

NELF - hypogonadotropic hypogonadism (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

NELF - hypogonadotropic hypogonadism (only familial mutation testing)



€ 435

NELF - hypogonadotropic hypogonadism (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)

OMIM: 608137
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

SEMA3A - autosomal dominant hypogonadotropic hypogonadism type 16 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

SEMA3A - autosomal dominant hypogonadotropic hypogonadism type 16 (only familial mutation testing)



€ 443

SEMA3A - autosomal dominant hypogonadotropic hypogonadism type 16 (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)
  • WES short stature/skeletal dysplasia (% *)

* % 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: 603961
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 443
Gene

TAC3 - autosomal recessive hypogonadotropic hypogonadism type 10 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

TAC3 - autosomal recessive hypogonadotropic hypogonadism type 10 (only familial mutation testing)



€ 360

TAC3 - autosomal recessive hypogonadotropic hypogonadism type 10 (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)

* % 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: 162330
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 360
Gene

TACR3 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

TACR3 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)



€ 360

TACR3 - autosomal recessive hypogonadotropic hypogonadism (only familial mutation testing)

This test is available for the following conditions:

  • Conditions > Endocrine > Hypogonadotropic hypogonadism with or without anosmia

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)

* % 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: 162332
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 360
Gene

WDR11 - autosomal dominant hypogonadotropic hypogonadism type 14 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

WDR11 - autosomal dominant hypogonadotropic hypogonadism type 14 (only familial mutation testing)



€ 550