Mitochondrial Hearing Loss Panel - M. 1555A>G and MT-TS1

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MITOCHONDRIAL HEARING LOSS PANEL - m. 1555A>G and MT-TS1

Tests Performed in Panel: m.1555A>G mutation and MTTS-1gene

See Individual Test pages for additional information

TURNAROUND TIME: 10 days
 
 
TESTING METHODOLOGY: please see individual test pages
 
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; A consent form available as a resource but not required.
 
INTERPRETATIVE DATA:
 
Incidence: Not well known and varies by ethnicity. May represent a small percentage of individuals with Non-Syndromic Hearing Loss (NSHL) that show no signs of Connexin 26 defects.
 
Disease Characteristics: Moderate to profound maternally inherited NSHL. The conditions may be progressive and induced by certain antibiotics
 
 
Clinical Sensitivity: Please see individual test pages for additional information
 
Test Limitations: Mutations present in less than 30% of the mitochondrial genomes, or outside the tested regions may not be detected. Rare diagnostic errors can occur due to primer or probe site mutations or rare polymorphisms.
 
INDICATIONS FOR TESTING:
  • Moderate to profound hearing loss
  • Family history of hearing loss suggestive of maternal inheritance
  • Hearing loss associated with aminoglycoside exposure
  • Hearing loss with palmoplantar keratoderma
  • Known familial mutation
ADDITIONAL RESOURCES:
OMIM Aminoglycoside-Induced Deafness - www.omim.org/entry/580000
Genetics Home Reference: www.ghr.nlm.nih.gov/gene/MT-RNR1
Genetics Home Reference: www.ghr.nlm.nih.gov/gene/MT-TS1