Connexin Hearing Loss Panel

CONNEXIN HEARING LOSS PANEL

Tests Performed in Panel: Connexin 26 & Connexin 30

Refer to the Individual Tests for additional information

TURNAROUND TIME: 15 days

TESTING METHODOLOGY: refer to individual tests

SPECIMEN REQUIREMENTS:

Collect: Prefer two 5ml whole blood EDTA (lavender top) tube.
Min. Collection: 0.7 ml whole blood EDTA.
Transport: blood EDTA at Room Temp shipped regular next day air (No Saturday delivery; store specimen at 4°C and ship Monday).
Stability: Ambient: up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable
Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood.
Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask. Maternal blood sample is required for maternal cell contamination studies.

A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.

Note:

Counseling and informed consent are recommended for genetic testing; Center for Genetic Testing at Saint Francis consent form is available as a resource but not required.

INTERPRETATIVE DATA:

Incidence (of congenital hearing loss): 1 to 6 in 1000

Disease Characteristics: Significant hearing loss

Clinical Sensitivity: refer to individual tests

Related Tests: Connexin 30; Connexin 26; Nonsyndromic Hearing Loss Panel;

Analytic Sensitivity: >99%

Test Limitations: Mutations outside the tested regions of the genes will not be detected.

INDICATIONS FOR USE: