CLRN1 - Usher syndrome type 3A (USH3A)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Usher syndrome
  • Conditions > Vision impairment / blindness > Usher syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 606397
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336

Gene

CDH23 - Usher syndrome type 1D

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 838

CDH23 - Usher syndrome type 1D



€ 838

CDH23 - Usher syndrome type 1D

This test is available for the following conditions:

  • Conditions > Hearing impairment > Usher syndrome
  • Conditions > Vision impairment / blindness > Usher syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Hereditary cancer panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 605516
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 838
Gene

CLRN1 - Usher syndrome type 3A (USH3A)

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

CLRN1 - Usher syndrome type 3A (USH3A)



€ 336
Gene

MYO7A - Usher syndrome type 1B

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706

MYO7A - Usher syndrome type 1B



€ 706

MYO7A - Usher syndrome type 1B

This test is available for the following conditions:

  • Conditions > Hearing impairment > Usher syndrome
  • Conditions > Vision impairment / blindness > Usher syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 276903
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 706
Gene

PCDH15 - Usher syndrome type 1F

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

PCDH15 - Usher syndrome type 1F



€ 583

PCDH15 - Usher syndrome type 1F

This test is available for the following conditions:

  • Conditions > Hearing impairment > Usher syndrome
  • Conditions > Vision impairment / blindness > Usher syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 605514
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 583
Gene

USH1C (HARMONIN) - Usher syndrome type 1C

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 493

USH1C (HARMONIN) - Usher syndrome type 1C



€ 493

USH1C (HARMONIN) - Usher syndrome type 1C

This test is available for the following conditions:

  • Conditions > Hearing impairment > Usher syndrome
  • Conditions > Vision impairment / blindness > Usher syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 605242
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 493
Gene

USH1G - Usher syndrome type 1G

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

USH1G - Usher syndrome type 1G



€ 336

USH1G - Usher syndrome type 1G

This test is available for the following conditions:

  • Conditions > Hearing impairment > Usher syndrome
  • Conditions > Vision impairment / blindness > Usher syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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: 607696
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

USH2A - Usher syndrome type 2A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 962

USH2A - Usher syndrome type 2A



€ 962

USH2A - Usher syndrome type 2A

This test is available for the following conditions:

  • Conditions > Hearing impairment > Usher syndrome
  • Conditions > Vision impairment / blindness > Usher syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • 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
  • Analysis of one or more specific deletions
  • Deletion/duplication analysis (MLPA)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 608400
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 962
MLPA

USH2A - Usher syndroom type 2A (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 450

USH2A - Usher syndroom type 2A (MLPA)



€ 450

USH2A - Usher syndroom type 2A (MLPA)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Usher syndrome
  • Conditions > Vision impairment / blindness > Usher syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Vision disorders panel

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

Method

  • Deletion/duplication analysis (MLPA)

OMIM: 608400
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 450