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GJB2 Gene Coding Region and Splicing Site Detection CapitalBio

This test is based on NGS technology, by detecting SNV、small InDel (<20bp) of GJB2 exon and 10bp intron of its upstream and downstream, can provide information as if the subject carrying GJB2 gene related deafness mutations.

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Features of GJB2 Gene Coding Region and Splicing Site Detection

DiseasesGeneInheritance Pattern
Deafness, autosomal dominant, 3AGJB2AD
Deafness, autosomal recessive, 1BGJB2AR
HID syndromeGJB2AD
Vohwinkel syndromeGJB2AD
KID syndromeGJB2AD
Palmoplantar keratoderma with deafnessGJB2AD
Knuckle pads, leuconychia and sensorineural deafness syndromeGJB2AD



Applicable Population of GJB2 Gene Coding Region and Splicing Site Detection

  • Auxiliary diagnosis: patients with congenital deafness, looking for genetic causes.

  • Subjects carrying GJB2 autosomal recessive heterozygous pathogenic locus by hereditary deafness sites screening.

Specification of GJB2 Gene Coding Region and Splicing Site Detection

Sample typesVenous Blood/ Dried Blood Spot/Tissue.
TAT20 working days


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