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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
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
Analytic Sensitivity: >99%
Test Limitations: Deletions of the entire genes or mutations outside the tested regions of the genes will not be detected.
Related Tests: Hearing Loss mt1555; Mitochondrial Hearing Loss Panel, Mitochondrial MTTS1; Connexin30; Connexin26.
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.
ADDITIONAL RESOURCES:
OMIM CX30 - www.omim.org/entry/604418
OMIM DFNB1A - http://omim.org/entry/220290
OMOM DFNA3A - http://omim.org/entry/601544
Genetics Home Reference: ghr.nlm.nih.gov/gene/GJB2
Gene Reviews for DFNA3: www.ncbi.nlm.nih.gov/books/NBK1536
Gene Reviews for DFNB1: www.ncbi.nlm.nih.gov/books/NBK1272
OMIM CX26 - www.omim.org/entry/121011
OMIM MT-RNR1 - www.omim.org/entry/561000
OMIM MT-TS1 - www.omim.org/entry/590080
OMIM Aminoglycoside-Induced Deafness - www.omim.org/entry/580000
Genetics Home Reference: www.ghr.nlm.nih.gov/gene/MT-RNR1