Gene

CABP2 - autosomal recessive deafness type 93

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

CABP2 - autosomal recessive deafness type 93



€ 360

CABP2 - autosomal recessive deafness type 93

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 607314
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 360
Gene

CDH23 - autosomal recessive deafness type 12 (DFNB12)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 806

CDH23 - autosomal recessive deafness type 12 (DFNB12)



€ 806

CDH23 - autosomal recessive deafness type 12 (DFNB12)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES hereditary cancer (100.0% *)
  • WES hereditary cancer (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES Mendelian inherited disorders (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: 605516
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 806
Gene

CLDN14 - autosomal recessive deafness type 29 (DFNB29)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

CLDN14 - autosomal recessive deafness type 29 (DFNB29)



€ 344

CLDN14 - autosomal recessive deafness type 29 (DFNB29)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 605608
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

CLIC5 - Deafness, autosomal recessive (DFNB103)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

CLIC5 - Deafness, autosomal recessive (DFNB103)



€ 369

CLIC5 - Deafness, autosomal recessive (DFNB103)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 607293
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

DFNB59 - autosomal recessive deafness type 59

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

DFNB59 - autosomal recessive deafness type 59



€ 369

DFNB59 - autosomal recessive deafness type 59

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 610219
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

ESRRB - autosomal recessive deafness type 35 (DFNB35)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

ESRRB - autosomal recessive deafness type 35 (DFNB35)



€ 402

ESRRB - autosomal recessive deafness type 35 (DFNB35)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 608565
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 402
Gene

FGF23 - familial hyperphosphatemic tumoral calcinosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

FGF23 - familial hyperphosphatemic tumoral calcinosis



€ 336

FGF23 - familial hyperphosphatemic tumoral calcinosis

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)
  • WES renal disorders (100.0% *)
  • WES renal disorders (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: 605380
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

GIPC3 - autosomal recessive deafness type 15 (DFNB15)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

GIPC3 - autosomal recessive deafness type 15 (DFNB15)



€ 360

GIPC3 - autosomal recessive deafness type 15 (DFNB15)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 608792
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 360
Gene

GJB2/GJB6 - autosomal recessive deafness type 1 (DFNB1)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

GJB2/GJB6 - autosomal recessive deafness type 1 (DFNB1)



€ 344

GJB2/GJB6 - autosomal recessive deafness type 1 (DFNB1)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • PCR Deletion
Remarks
A deletion in GJB6 is also described in DFNB1. Therefore, GJB6 deletion analysis is also performed. The GJB2 gene is fully covered in the WES data and no longer needs to be requested separately.

OMIM: 121011
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

GRXCR1 - autosomal recessive deafness type 25 (DFNB25)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

GRXCR1 - autosomal recessive deafness type 25 (DFNB25)



€ 344

GRXCR1 - autosomal recessive deafness type 25 (DFNB25)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (99.3% *)
  • WES Mendelian inherited disorders (99.3% *)

* % 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: 613283
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

HGF - autosomal recessive deafness type 39 (DFNB39)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 459

HGF - autosomal recessive deafness type 39 (DFNB39)



€ 459

HGF - autosomal recessive deafness type 39 (DFNB39)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 142409
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 459
Gene

ILDR1 - autosomal recessive deafness type 42 (DFNB42)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

ILDR1 - autosomal recessive deafness type 42 (DFNB42)



€ 385

ILDR1 - autosomal recessive deafness type 42 (DFNB42)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 609739
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385
Gene

KARS - autosomal recessive deafness type 89

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

KARS - autosomal recessive deafness type 89



€ 435

KARS - autosomal recessive deafness type 89

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 601421
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

LOXHD1 - autosomal recessive deafness type 77 (DFNB77 )

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 657

LOXHD1 - autosomal recessive deafness type 77 (DFNB77 )



€ 657

LOXHD1 - autosomal recessive deafness type 77 (DFNB77 )

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 613072
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 657
Gene

MYO15A - autosomal recessive deafness type 3 (DFNB3)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 773

MYO15A - autosomal recessive deafness type 3 (DFNB3)



€ 773

MYO15A - autosomal recessive deafness type 3 (DFNB3)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 602666
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 773
Gene

MYO3A - autosomal recessive deafness 30 (DFNB30)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 558

MYO3A - autosomal recessive deafness 30 (DFNB30)



€ 558

MYO3A - autosomal recessive deafness 30 (DFNB30)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 606808
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 558
Gene

MYO6 - autosomal recessive deafness type 37 (DFNB37)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 600

MYO6 - autosomal recessive deafness type 37 (DFNB37)



€ 600

MYO6 - autosomal recessive deafness type 37 (DFNB37)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES heart disorders¹ (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: 607821
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 600
Gene

MYO7A - autosomal recessive deafness type 2 (DFNB2)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 707

MYO7A - autosomal recessive deafness type 2 (DFNB2)



€ 707

MYO7A - autosomal recessive deafness type 2 (DFNB2)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 276903
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 707
Gene

OTOA - autosomal recessive deafness type 22 (DFNB22)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

OTOA - autosomal recessive deafness type 22 (DFNB22)



€ 542

OTOA - autosomal recessive deafness type 22 (DFNB22)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 607038
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542
Gene

OTOF - autosomal recessive deafness type 9 (DFNB9)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 699

OTOF - autosomal recessive deafness type 9 (DFNB9)



€ 699

OTOF - autosomal recessive deafness type 9 (DFNB9)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 603681
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 699
Gene

OTOG - autosomal recessive deafness type 18B (DFNB18B)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 682

OTOG - autosomal recessive deafness type 18B (DFNB18B)



€ 682

OTOG - autosomal recessive deafness type 18B (DFNB18B)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 604487
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 682
Gene

OTOGL - autosomal recessive deafness type 84B (DFNB84B)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 765

OTOGL - autosomal recessive deafness type 84B (DFNB84B)



€ 765

OTOGL - autosomal recessive deafness type 84B (DFNB84B)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 614925
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 765
Gene

PCDH15 - autosomal recessive deafness type 23 (DFNB23)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 583

PCDH15 - autosomal recessive deafness type 23 (DFNB23)



€ 583

PCDH15 - autosomal recessive deafness type 23 (DFNB23)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 605514
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 583
Gene

PTPRQ - autosomal recessive deafness type 84 (DFNB84)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 794

PTPRQ - autosomal recessive deafness type 84 (DFNB84)



€ 794

PTPRQ - autosomal recessive deafness type 84 (DFNB84)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (91.9% *)
  • WES Mendelian inherited disorders (91.9% *)

* % 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: 603317
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 794
Gene

RDX - autosomal recessive deafness type 24

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 426

RDX - autosomal recessive deafness type 24



€ 426

RDX - autosomal recessive deafness type 24

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 179410
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 426
Gene

SLC26A4 - autosomal recessive deafness type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 484

SLC26A4 - autosomal recessive deafness type 4



€ 484

SLC26A4 - autosomal recessive deafness type 4

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 605646
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 484
Gene

SLC26A5 - autosomal recessive deafness type 61

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476

SLC26A5 - autosomal recessive deafness type 61



€ 476

SLC26A5 - autosomal recessive deafness type 61

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES hearing impairment (including GJB2) (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: 604943
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 476
Gene

STRC - autosomal recessive deafness type 16 (DFNB16)

Turnaround time
2 months
Performing laboratory
Radboudumc
€ 644

STRC - autosomal recessive deafness type 16 (DFNB16)



€ 644

STRC - autosomal recessive deafness type 16 (DFNB16)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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
2 months

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)

OMIM: 606440
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 644
Gene

TECTA - autosomal recessive deafness type 21 (DFNB21)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 542

TECTA - autosomal recessive deafness type 21 (DFNB21)



€ 542

TECTA - autosomal recessive deafness type 21 (DFNB21)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 602574
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 542
Gene

TMC1 - autosomal recessive deafness type 7/11 (DFNB7)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

TMC1 - autosomal recessive deafness type 7/11 (DFNB7)



€ 492

TMC1 - autosomal recessive deafness type 7/11 (DFNB7)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 606706
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492
Gene

TMPRSS3 - autosomal recessive deafness type 8/10 (DFNB8)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 418

TMPRSS3 - autosomal recessive deafness type 8/10 (DFNB8)



€ 418

TMPRSS3 - autosomal recessive deafness type 8/10 (DFNB8)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 605511
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 418
Gene

TPRN - autosomal recessive deafness type 79 (DFNB79)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

TPRN - autosomal recessive deafness type 79 (DFNB79)



€ 377

TPRN - autosomal recessive deafness type 79 (DFNB79)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (95.4% *)
  • WES Mendelian inherited disorders (95.4% *)
  • WES Mendelian inherited disorders (95.4% *)

* % 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: 613354
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377
Gene

TRIOBP - autosomal recessive deafness type 28 (DFNB28)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

TRIOBP - autosomal recessive deafness type 28 (DFNB28)



€ 509

TRIOBP - autosomal recessive deafness type 28 (DFNB28)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (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: 609761
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509
Gene

USH1C (HARMONIN) - autosomal recessive deafness type 18A (DFNB18A)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 533

USH1C (HARMONIN) - autosomal recessive deafness type 18A (DFNB18A)



€ 533

USH1C (HARMONIN) - autosomal recessive deafness type 18A (DFNB18A)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, autosomal recessive

This product is also part of the following panels:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (including GJB2) (100.0% *)
  • WES Mendelian inherited disorders (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: 605242
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 533