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Deafness: connexin 26 & connexin 30


Deafness: connexin 26 & connexin 30

TESTING STRATEGY

Direct sequencing of exon 2 and part of exon 1 of the GJB2 (Connexin 26) gene.

Mutation specific PCR analysis for the two GJB6 (Connexin 30) large deletions: del(GJB6-D13S1830) and del(GJB6-D13S1854).

SAMPLE REQUIREMENTS & REPORTING TIME

  • 5-10ml blood in EDTA, or DNA
  • Diagnosis 8 weeks
  • Carrier testing 2 weeks

FURTHER INFORMATION / LINKS