Hereditary hearing loss [A Test in Focus]
Hereditary hearing loss affects thousands of people in the United States, and determining the underlying cause is crucial to developing an effective long-term treatment plan for each patient.
In this "Test in Focus" episode of the "Answers From the Lab" podcast, Nicole Boczek, Ph.D., co-director of Mayo Clinic's Genetics and Genomics Laboratory, reviews the new hereditary hearing loss panel now available through Mayo Clinic Laboratory, and she explains how this panel is different from other hearing loss tests currently on the market.
"In addition to testing for nonsyndromic hearing loss, there are a lot of individuals for whom hearing loss is only a small part of their genetic picture, and they fall into the syndromic hearing loss category," Dr. Boczek says. "These conditions can be very difficult to assess clinically, especially if they present at the newborn stage. So we decided to add more of those genes to our panel to help the ordering provider identify the syndromic conditions early."
Dr. Boczek also describes the impact the test result can have on patient care. "Many of the syndromic conditions that we test for can have other organ system involvement," she says. "And it's important to establish that early on, because it can really change how these patients are managed over time."
Listen to learn more from Dr. Boczek about how Mayo's hereditary hearing loss panel was developed, and the robust technology it uses to ensure clear and clinically meaningful results.
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Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder
Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members
Specimen Type: Whole blood
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
- Invert several times to mix blood.
- Send specimen in original tube.Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate. Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (e.g., minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin..
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/ambient
Specimen Type: Cultured fibroblast
Container/Tube: T-25 flask
Specimen Volume: 2 flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred)/refrigerated (<24 hours)
Day(s) and Time(s) Test Performed