Hypogonadotropic hypogonadism with or without anosmia

Hypogonadotropic hypogonadism (Kallmann) panel

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

• Exome analysis (WES or WGS data)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.

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

Panel version: DG-4.1.0

• Previous versions

  2025-01-21-DG-4-0-0
  2024-05-21-DG-3-9-0
  2024-02-25-DG-3-8-1
  2023-08-31-DG-3-7-0
  2023-04-05-DG-3-6-0
  2022-12-05-DG-3-5-0
  2022-04-19-DG-3-4-0
  2022-01-13-DG-3-3-0
  2021-09-16-DG-3-2-0
  2021-03-23-DG-3-1-0
  2020-12-02-DG-3-0-0
  2020-04-20-DG-2-1-8
  2019-12-06-DG-2-1-7
  2019-06-07-DG-2-1-6
  2019-01-31-DG-2-1-5

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

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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:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Skin disorders panel¹

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

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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:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel with genome wide CNV analysis

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

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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:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel with genome wide CNV analysis

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

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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:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel with genome wide CNV analysis

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

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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:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel with genome wide CNV analysis

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

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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

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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:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

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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:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel with genome wide CNV analysis

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

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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:

• Comprehensive preconception carrier test panel¹
• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• Mendelian inherited disorders panel with genome wide CNV analysis

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

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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:

• Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
• Hypogonadotropic hypogonadism (Kallmann) panel
• 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

• 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

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