| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Panel pinpoints causes of genetic hearing loss
Answers from the Lab
Genetic hearing loss is fairly common, and the precise cause impacts clinical management. In this test-specific episode of the "Answers From the Lab" podcast, Nicole Boczek, Ph.D., and Melanie Meyer, M.S., CGC, explain how Mayo Clinic Laboratories' updated hearing loss panel enhances the detection of genetic variants, for optimal patient care.
"This test uses next generation sequencing to detect variants in 200 genes associated with hereditary hearing loss," Dr. Boczek says. "We also utilize several supplementary methods to better interrogate tricky genomic regions. Adding these methods has a lot of value for both the patient and the provider."
Besides detecting variants that cause only hearing loss, the panel also identifies variants leading to syndromes with additional clinical features. "These results would alert the provider that other organ systems need to be medically managed, as well as hearing loss," Meyer says.
The test is recommended for patients from birth to age 55 as soon as hearing loss is diagnosed. "Mayo Clinic has unique expertise to help providers understand patient results, " Dr. Boczek says.
Listen to learn more about Mayo Clinic Laboratories' Audiologene Hearing Loss Panel.
Note: Podcasts will not play back on Internet Explorer. Please use an alternative web browser, or listen from your mobile device on a preferred listening app.
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.
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.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
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 (eg, 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
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblasts
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)
Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.
