Exome

WES hypogonadotropic hypogonadism (Kallmann)

Turnaround time
Regular: 4 months / Rapid: 15 working days
Performing laboratory
Radboudumc
€ 990

WES hypogonadotropic hypogonadism (Kallmann)




€ 990

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: 4 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 37 genes.

Panel version: DG 2.15
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA





€ 990
Gene

CHD7 - Kallmann syndrome type 5

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

CHD7 - Kallmann syndrome type 5



€ 649

CHD7 - Kallmann syndrome type 5

This test is available for the following conditions:

  • Conditions > Endocrine > Kallmann syndrome

This product is also part of the following panels:

** % 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

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

FGF8 - Kallmann syndrome type 6



€ 361

FGF8 - Kallmann syndrome type 6

This test is available for the following conditions:

  • Conditions > Endocrine > Kallmann syndrome

This product is also part of the following panels:

** % 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

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

FGFR1 - Kallmann syndrome type 2



€ 723

FGFR1 - Kallmann syndrome type 2

This test is available for the following conditions:

  • Conditions > Endocrine > Kallmann syndrome

This product is also part of the following panels:

** % 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

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

KAL1 (ANOS1) - Kallmann syndrome type 1



€ 427

KAL1 (ANOS1) - Kallmann syndrome type 1

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

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

PROK2 - Kallmann syndrome type 4



€ 624

PROK2 - Kallmann syndrome type 4

This test is available for the following conditions:

  • Conditions > Endocrine > Kallmann syndrome

This product is also part of the following panels:

** % 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

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

PROKR2 - Kallmann syndrome type 3



€ 616

PROKR2 - Kallmann syndrome type 3

This test is available for the following conditions:

  • Conditions > Endocrine > Kallmann syndrome

This product is also part of the following panels:

** % 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

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

SOX10 - Kallmann syndrome with deafness



€ 361

SOX10 - Kallmann syndrome with deafness

This test is available for the following conditions:

  • Conditions > Endocrine > Kallmann syndrome

This product is also part of the following panels:

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




€ 361