NL
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)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 47 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 3.6
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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 (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES skin disorders¹ (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:
602748
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (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
- 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
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 (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (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
- 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
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 (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (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
- 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
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 (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (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
- 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
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
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 (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES short stature/skeletal dysplasia (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:
603961
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (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
- 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
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 (99.8% *)
- WES hypogonadotropic hypogonadism (Kallmann) (99.8% *)
- WES Mendelian inherited disorders (99.8% *)
* % 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
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 (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (100.0% *)
- 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
- 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
