GJB2 Sequencing, Family-targeted (Single Exon Sequencing−Known Mutation)

Also known as: Connexin 26, Hearing Loss (GJB2)

Clinical Use

Use

Detects known familial mutations in the connexin 26 (GJB2) gene associated with nonsyndromic sensorineural hearing loss (NSHL). This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order full gene sequencing.

Special Instructions

Not provided.

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants or variants outside of the regions targeted by this analysis. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.

Test Details