NL
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
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
