NONSYNDROMIC HEARING LOSS PANEL
Tests performed in the Panel: Connexin26, Connexin30, Mitochondrial Hearing Loss -mt 1555A7G
See Individual Tests for additional information
TURNAROUND TIME: 15 days
TESTING METHODOLOGY: refer to individual tests
- 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.
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.
Incidence of congenital hearing loss: 1 to 6 in 1000
Disease Characteristics: Significant hearing loss
Clinical Sensitivity: refer to individual tests
Analytic Sensitivity: >99%
Test Limitations: Deletions of the entire genes or mutations outside the tested regions of the genes will not be detected.
INDICATIONS FOR USE:
- To determine the genetic basis for hearing loss in an affected individual or family.
- Individuals at risk due to family history who wish prenatal diagnosis.
- To determine if an individual is at risk of developing aminoglycoside-induced deafness.