Connexin 30
GTR Test Accession: Help GTR000502866.4
INHERITED DISEASEEAR, NOSE, THROATNERVOUS SYSTEM ... View more
Last updated in GTR: 2018-09-24
Last annual review date for the lab: 2021-10-14 Past due LinkOut
At a Glance
Mutation Confirmation; Diagnosis; Risk Assessment
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A
Genes (1): Help
GJB6 (13q12.11)
Molecular Genetics - Targeted variant analysis: Polymerase Chain Reaction and Fragment Analysis
Individuals exhibiting symptoms consistent with nonsyndromic hearing loss. Incidence of …
The CX30 deletion accounts for a small portion of DFNB1 …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Health Care Provider
  • Genetic Counselor
Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Administrator
lhwhetsell@saintfrancis.com
918-502-1730
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Polymerase Chain Reaction and Fragment Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Mutation Confirmation; Diagnosis; Risk Assessment
Clinical validity: Help
The CX30 deletion accounts for a small portion of DFNB1 hearing loss. However, it has been found in a higher percentage of individuals having a single CX26 change. Greater than 90% of mutations in the CX30 gene are due to the 342kb deletion
Clinical utility: Help
Establish or confirm diagnosis

Target population: Help
Individuals exhibiting symptoms consistent with nonsyndromic hearing loss. Incidence of mutations for the DFNB1 locus is 1%;GJB6 deletions account for a small portion of DFNB1 hearing loss. However, it has been found in a higher percentage of individuals having a single GJB2 gene mutation. Greater than 90% of mutations in … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
HGMD, Disease specific databases and an Internal Variant Database are used for variant interpretation. An assessment is also made with a splice site predictor program. Once established as a VUS, Polyphen and SIFT analyses are performed to help provide an interpretation.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Ordering physician or genetic counselor contacted and a revised report issued
Recommended fields not provided:
Technical Information
Test Procedure: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Comments: Help
Targets a 342kb deletion of the D13S1830 locus
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy greater than 99%; determined by in-house validations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Polyphen and SIFT

Laboratory's policy on reporting novel variations Help
Routine Report
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.