Connexin 30 Mutation Detection Test Cost & Procedure

Mutations within the gap-junction sequence Cx30 (Connexin30, GJB6) square measure a far-famed reason for hearing impairment. Here, we tend to report our findings on an oversized multi-generation family within which severe to profound sensorineural disability is related to a range of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to body region thirteen ptPatel-q12.1hich a unique mutation, p.N54K, in Cx30, co-segregates with the makeup. unlike wild-type Cx30, p.N54K Cx30 is preponderant lolocalizedithin the living substance and doesn't allow transfer of necrobiosis suggesting improper cellular localization and ending of gap-junction activity.

Useful to spot a second mutation in patients WHO carry one CX26 mutation associate degree to see the genetic basis for hearing impairment in an affected individual.

Study design:

All told, sixty-eight youngsters with nonsyndromic sensorineural hearing impairment were screened for Cx26 andmultienzymenzymey an enzyme chain, reaction, and direct sequencing.

Methods:

Genomic DNA was amplified by enzyme chain reaction victimization primers that flank the whole Cx26 secret writing region. Screening for the 342-kb Cx30 deletion was performed with victimization primers that amplified the breakpoint junction of the deletion. The amplicons were then sequenced in each direction and unanalyzed mutations. mensuration testing, together with pure-tone audiometry and modality-induced brain stem response, was conjointly performed to see the degree of hearing impairment.

Results:

Twenty-seven of sixty-eight youngsters tested had mutations in Cx26 with 35delG being the foremost rife. 10 further Cx26 mutations were detected together with a coique compound heterozygote. 2 youngsters were heterozygous for the Cx30 del (GJB6-D13S1830) mutation.

Conclusion:

Cx26 and Cx30 mutations were gig forty-one.  one.2% of kids tested within the study population. Mensuration knowledge supported previous studies demonstrating a larger degree of hearing impairment in subjects WHO square measure homozygous for the 35delG mutation.

Specimen Requirements:

Blood: EDTA (purple lid tube) or ACD (yellow lid tube)

Adult:5mL

Child:5mL

Infant:2-3mL

Saliva: a pair of ORorangepittle Kit(s) (OGR-500)

Skin Fibroblast: Punch diagnostic assay, r a pair of T-25 convergent flasks

Prenatal:

Direct bodily fluid (10-20mL)

Direct CVS

Cultured centesis or CVS (2-T25 flasks)

DNA: 1-2µg at a minimum of 50-100 ng/µL (DNA should be extracted in an exceedingly CLIA-certified laboratory or a laboratory meeting equivalent needs as determined by the CAP and/or CMS)

Test Performed (Days):

Weekly

Turn Around Time:

14-21 Days