Nonsyndromic Hearing Loss Panel

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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
 
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.
 
 
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:
 
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 Aminoglycoside-Induced Deafness - www.omim.org/entry/580000
Genetics Home Reference: www.ghr.nlm.nih.gov/gene/MT-RNR1