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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, Isolated DNA
CHD7 - Kallmann syndrome type 5 (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Endocrine > Kallmann syndrome
This product is also part of the following panels:
- WES congenital heartdisease ¹ (100.0% *)
- WES craniofacial anomalies (100.0% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES orofacial clefting (100.0% *)
- WES primary immunodeficiencies (100.0% *)
- WES vision 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:
608892
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
FGF8 - Kallmann syndrome type 6 (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Endocrine > Kallmann syndrome
This product is also part of the following panels:
- WES craniofacial anomalies (100.0% *)
- 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 orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (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:
600483
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
FGFR1 - Kallmann syndrome type 2 (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Endocrine > Kallmann syndrome
This product is also part of the following panels:
- panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹
- WES craniofacial anomalies (100.0% *)
- 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% *)
- WES orofacial clefting (100.0% *)
- WES short stature/skeletal dysplasia (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
- Deletion/duplication analysis (MLPA)
OMIM:
136350
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KAL1 (ANOS1) - Kallmann syndrome type 1 (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Endocrine > Kallmann syndrome
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:
300836
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PROKR2 - Kallmann syndrome type 3 (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Endocrine > Kallmann syndrome
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 orofacial clefting (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
- Deletion/duplication analysis (MLPA)
OMIM:
607123
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SOX10 - Kallmann syndrome with deafness (only familial mutation testing)
This test is available for the following conditions:
- Conditions > Endocrine > Kallmann syndrome
This product is also part of the following panels:
- WES craniofacial anomalies (100.0% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES hypogonadotropic hypogonadism (Kallmann) (100.0% *)
- WES intellectual disability (100.0% *)
- WES liver disorders (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement disorders (100.0% *)
- WES neuropathies¹ (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
- Deletion/duplication analysis (MLPA)
OMIM:
602229
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
