Mitochondrial Hearing Loss Panel

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: