Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel
MT-TS1-Related Hearing Loss and Deafness | MTRNR1-Related Hearing Loss and Deafness (Aminoglycoside Ototoxicity) | Aminoglycoside Ototoxicity (MT-RNR1-Related) | Maternally Inherited Hearing Loss | mtDNA Nonsyndromic Hearing Loss Mutation Panel | Mitochondrial Sensorineural Hearing Loss and Deafness Mutation Panel
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| Test Information: |
Confirmation of Clinical Diagnosis, Risk Assessment - Positive Family History (no familial mutation known)
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| Test Details |
| Test Code: |
3030 |
| Test Includes: |
Full sequence analysis of the MT-RNR1, MT-TS1, MT-TS2 genes. This test will detect the common mutations in the MT-RNR1 gene, 1494C>T, 1555A>G and the common mutations found in the MT-TS1 gene, 7472insC, 7445A>G, 7510T>C, 7511T>C, 7512T>C.
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| Special Notes: |
If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3031). Please see detailed requirements under this test code.
Sequence analysis does not detect low mutant heteroplasmy. Heteroplasmy <50% may not be detected.
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| Technical Information |
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| Methodology: |
Sequence analysis is performed in both forward and reverse directions |
| Gene Name: |
MT-RNR1, MT-TS1, MT-TS2, MTRNR1 |
| Protein Name: |
Mitochondrial 12S ribosomal RNA, Mitochondrial tRNA serine 1, Mitochondrially encoded tRNA serine 2 (AGU/C) |
| Sample & Shipping Information |
| Test Requisition: |
Mitochondrial |
| Specimen Type: |
Blood |
| Requirements: |
Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs). |
| Shipping Conditions: |
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
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| Specimen Type: |
Saliva |
| Requirements: |
Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction). |
| Shipping Conditions: |
Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
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| Specimen Type: |
Skeletal Muscle |
| Requirements: |
50 mg for muscle DNA analysis, 150mg for muscle ETC analysis, >200mg if additional tests are requested. |
| Shipping Conditions: |
Skeletal Muscle should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.
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| Specimen Type: |
Tissue |
| Requirements: |
50 mg of heart, brain, liver, kidney or fibroblast cultures for DNA analysis. |
| Shipping Conditions: |
Tissues such as liver and kidney should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.
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