NL
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)
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
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
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:
- Congenital heartdisease panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hearing impairment panel (including GJB2)
- Heart disorders panel¹
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- Primary immunodeficiencies panel
- Vision disorders panel
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:
- Craniofacial anomalies panel with genome wide CNV analysis
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hypogonadotropic hypogonadism (Kallmann) panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting panel with genome wide CNV analysis
- Short stature/skeletal dysplasia 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:
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:
- Craniofacial anomalies panel with genome wide CNV analysis
- 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
- Orofacial clefting panel with genome wide CNV analysis
- panel craniosynostosis (FGFR1 (ex7), FGFR2, GFR3 (ex6), TWIST1) ¹
- Short stature/skeletal dysplasia 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
- 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:
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hypogonadotropic hypogonadism (Kallmann) panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Orofacial clefting 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
- 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:
- Craniofacial anomalies panel with genome wide CNV analysis
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hearing impairment panel (including GJB2)
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability panel with genome wide CNV analysis
- Liver disorders panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Polyneuropathies panel¹
- 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
- Deletion/duplication analysis (MLPA)
OMIM:
602229
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
