Renal tubular acidosis with deafness

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

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