Gene

FOXI1 - Pendred syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 327

FOXI1 - Pendred syndrome



€ 327

FOXI1 - Pendred syndrome

This test is available for the following conditions:

  • Conditions > Hearing impairment > Pendred 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
  • Renal 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: 601093
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 327
Gene

SLC26A4 - Pendred syndrome

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

SLC26A4 - Pendred syndrome



€ 476

SLC26A4 - Pendred syndrome

This test is available for the following conditions:

  • Conditions > Hearing impairment > Pendred 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

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




€ 476
MLPA

SLC26A4 - Pendred syndrome (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

SLC26A4 - Pendred syndrome (MLPA)



€ 400

SLC26A4 - Pendred syndrome (MLPA)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Pendred 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

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

Method

  • Deletion/duplication analysis (MLPA)

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




€ 400