ATP6V0A4 - distal renal tubulair acidosis

This test is available for the following conditions:

  • Conditions > Hearing impairment > Renal tubular acidosis with deafness
  • Conditions > Renal / Nephrological > Renal tubular acidosis with deafness

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: 605239
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 468

Gene

ATP6V0A4 - distal renal tubulair acidosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

ATP6V0A4 - distal renal tubulair acidosis



€ 468
Gene

ATP6V1B1 - renal tubular acidosis with progressive sensorineural deafness

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

ATP6V1B1 - renal tubular acidosis with progressive sensorineural deafness



€ 427

ATP6V1B1 - renal tubular acidosis with progressive sensorineural deafness

This test is available for the following conditions:

  • Conditions > Hearing impairment > Renal tubular acidosis with deafness
  • Conditions > Renal / Nephrological > Renal tubular acidosis with deafness

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: 192132
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 427