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
- 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.
* Counseling and informed consent are recommended for genetic testing; A consent form
available as a resource but not required.
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
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