Connexin 26 Mutation Detection Test Cost & Procedure

Connexin 26(Cx26) could be a macromolecule found on the (GJB2) sequence and is the most typical reason behind inherent sensorineural deafness. Connexin twenty-situations square measure answerable for a minimum of two hundredth of all genetic deafness and 100 percent of all childhood deafness.

Mutations in GJB2 square measure are the foremost common reason behind hereditary inherent deafness in several countries and square measure found in half of the persons with severe-to-profound inherent chromosome recessive non-syndromic deafness (ARNSHL).

Indications for Testing

Nonsyndromic deafness (NSHL) detected throughout hearing screening tests

Familial history of NSHL – carrier testing of relatives of people with renowned GJB2, GJB6, or mtDNA variation

Clinical Presentation

In general, sensorineural deafness with no different associated findings

GJB2 (Connexin 26) or GJB6 (Connexin 30) variants – deafness is bilateral and stable with prelingual onset

Mitochondrial variants usually cause sensorineural deafness that varies in severity and onset

Test Methodology

GJB2 (exonic and intronic splice website consensus) sequences square measure amplified exploitation specific primers and bidirectionally sequenced employing a fluorescent technique. the two most frequent giant deletions in GJB6 square measure detected by a PCR-based technique.

Test Usage

Confirmation of identification of deafness with a genetic etiology or carrier testing in families with a renowned GJB2 mutation. Connexin torganiserraniser formed an ordered reflexive assay consisting of Connexin twenty-sixGJB2) Mutation Analysis and Connexin thirty (GJB6) Deletion Analysis. A patient with non-syndromic deafness will have 2 mutations in Connexin twenty-six2 mutations in Connexin thirty, one mutation in Connexin twenty-six, and one mutation in Connexin thirty. Mutations within the GJB2 (Connexin 26) sequence account for 30-70% of non-syndromic recessitinytinynyow variety of chromosome dominant) hearing loss in Caucasian populations. more or less four-hundredth of people with isolated non-syndromic deafness additionally carry GJB2 mutations.

Specimen needs

Collection directions

Collect the specimen in a very lavender-high tune. Send intact specimens at intervals of 24 hours if kept at temperature or intervals five days if kekeptold. embody the patient's case history, pedigree, and quality on the check requisition. getting consent from the patient before genetic testing is powerfully counseled.

Normal Volume

5 - ten millilitre EDTA blood

Minimum Volume

2 millilitre EDTA blood