Gene

MITF - Waardenburg syndrome type 2A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 632

MITF - Waardenburg syndrome type 2A



€ 632

MITF - Waardenburg syndrome type 2A

This test is available for the following conditions:

  • Conditions > Hearing impairment > Waardenburg syndrome

This product is often ordered in combination with:

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: 156845
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

PAX3 - Waardenburg syndrome type 1/3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 621

PAX3 - Waardenburg syndrome type 1/3



€ 621

PAX3 - Waardenburg syndrome type 1/3

This test is available for the following conditions:

  • Conditions > Hearing impairment > Waardenburg syndrome

This product is often ordered in combination with:

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: 606597
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 621
Gene

SNAI2 - Waardenburg syndrome, type 2D

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 654

SNAI2 - Waardenburg syndrome, type 2D



€ 654

SNAI2 - Waardenburg syndrome, type 2D

This test is available for the following conditions:

  • Conditions > Hearing impairment > Waardenburg 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

  • Deletion/duplication analysis (MLPA)
Remarks
For SNAI2 only deletions have been described. If only a heterozygous deletion is detected, sequence analysis can subsequently be performed.

OMIM: 602150
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 654
Gene

SOX10 - Waardenburg syndrome, type 2E

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 598

SOX10 - Waardenburg syndrome, type 2E



€ 598

SOX10 - Waardenburg syndrome, type 2E

This test is available for the following conditions:

  • Conditions > Hearing impairment > Waardenburg syndrome

This product is often ordered in combination with:

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




€ 598
MLPA

panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 609

panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)



€ 609

panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Waardenburg syndrome

This product is often ordered in combination with:

Turnaround time
8 weeks

Method

  • Deletion/duplication analysis (MLPA)

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




€ 609