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 (% *)
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hearing impairment (including GJB2) (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES intellectual disability (% *)
  • WES liver disorders (% *)
  • WES Mendelian inherited disorders (% *)
  • WES movement disorders (% *)
  • WES neuropathies¹ (% *)
  • 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
  • Deletion/duplication analysis (MLPA)

OMIM: 602229
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361

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

CHD7 - Kallmann syndrome type 5 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 649

CHD7 - Kallmann syndrome type 5 (only familial mutation testing)



€ 649

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 (% *)
  • WES craniofacial anomalies (% *)
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hearing impairment (including GJB2) (% *)
  • WES heart disorders¹ (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES intellectual disability (% *)
  • WES Mendelian inherited disorders (% *)
  • WES orofacial clefting (% *)
  • WES primary immunodeficiencies (% *)
  • WES vision 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: 608892
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 649
Gene

FGF8 - Kallmann syndrome type 6 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

FGF8 - Kallmann syndrome type 6 (only familial mutation testing)



€ 361

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 (% *)
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)
  • WES orofacial clefting (% *)
  • WES short stature/skeletal dysplasia (% *)
  • 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: 600483
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361
Gene

FGFR1 - Kallmann syndrome type 2 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 723

FGFR1 - Kallmann syndrome type 2 (only familial mutation testing)



€ 723

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 (% *)
  • WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES intellectual disability (% *)
  • WES Mendelian inherited disorders (% *)
  • WES orofacial clefting (% *)
  • WES short stature/skeletal dysplasia (% *)
  • 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
  • Deletion/duplication analysis (MLPA)

OMIM: 136350
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 723
Gene

KAL1 (ANOS1) - Kallmann syndrome type 1 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 427

KAL1 (ANOS1) - Kallmann syndrome type 1 (only familial mutation testing)



€ 427

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




€ 427
Gene

PROK2 - Kallmann syndrome type 4 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 624

PROK2 - Kallmann syndrome type 4 (only familial mutation testing)



€ 624

PROK2 - Kallmann syndrome type 4 (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 (% *)
  • 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: 607002
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 624
Gene

PROKR2 - Kallmann syndrome type 3 (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 616

PROKR2 - Kallmann syndrome type 3 (only familial mutation testing)



€ 616

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 (% *)
  • WES hypogonadotropic hypogonadism (Kallmann) (% *)
  • WES Mendelian inherited disorders (% *)
  • WES orofacial clefting (% *)
  • 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
  • Deletion/duplication analysis (MLPA)

OMIM: 607123
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 616
Gene

SOX10 - Kallmann syndrome with deafness (only familial mutation testing)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

SOX10 - Kallmann syndrome with deafness (only familial mutation testing)



€ 361