Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000613136.1
Registered in GTR:
2024-01-11
View version history
GTR000613136.1,
registered in GTR:
2024-01-11
Last annual review date for the lab: 2024-01-11
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (7):
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Genes (3):
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MT-ND1 ();
MT-RNR1 ();
MT-TS1 ()
Methods (1):
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Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals with suspected aminoglycoside-induced hearing loss or wanting to know …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
Test Order Code:
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MTRNR1
View other test codes
View other test codes
CPT codes:
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Lab contact:
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Amy Weaver, Administrator
[email protected]
319-335-6623
Jori Hendon, BA, Administrator
[email protected]
319-335-6653
[email protected]
319-335-6623
Jori Hendon, BA, Administrator
[email protected]
319-335-6653
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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3-5 cc of whole blood in lavender top EDTA tubes or 5 μg DNA from whole blood (resuspended in at least 50 ul of DNA Elution Buffer), samples can be received Monday - Friday (no weekend or holiday deliveries), completed testing requisition form MUST accompany all samples - Institutional Billing …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom mutation-specific/Carrier testing
Informed consent required:
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Based on applicable state law
Test strategy:
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Targeted Sanger sequencing of MT-RNR1 variants: m.1095T>C, m.1494C>T, and m.1555A>G. Reflex testing to the MORL OtoSCOPE v9 hearing loss panel is available. A report for MT-RNR1 panel is issued and a new test requisition and test request is required to initiate reflex testing.
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test development
Conditions
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Total conditions: 7
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 3
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500XL
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG. Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther. 2022;111(2):366-372. doi:10.1002/cpt.2309. Epub 2021 Jun 20. PMID: 34032273.
Target population:
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Individuals with suspected aminoglycoside-induced hearing loss or wanting to know risk for aminoglycoside-induced hearing loss.
View citations (1)
- McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG. Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther. 2022;111(2):366-372. doi:10.1002/cpt.2309. Epub 2021 Jun 20. PMID: 34032273.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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This test includes targeted Sanger sequencing of MT-RNR1 variants: m.1095T>C, m.1494C>T, and m.1555A>G. Additional variants in MT-RNR1 are not tested with this assay. The three tested variants are high risk variants according to the Clinical Pharmacogenetics Implementation Consortium (CPIC). Additional variants of unknown significance outside of the three described variants … View more
This test includes targeted Sanger sequencing of MT-RNR1 variants: m.1095T>C, m.1494C>T, and m.1555A>G. Additional variants in MT-RNR1 are not tested with this assay. The three tested variants are high risk variants according to the Clinical Pharmacogenetics Implementation Consortium (CPIC). Additional variants of unknown significance outside of the three described variants … View more
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. If new information comes to light about a previously identified variant that changes the result significantly (ie, the variant was previously reported as damaging and now is considered a benign polymorphism) a revised report will be sent to the ordering physician. Additionally, ordering healthcare providers can contact the MORL at … View more
Yes. If new information comes to light about a previously identified variant that changes the result significantly (ie, the variant was previously reported as damaging and now is considered a benign polymorphism) a revised report will be sent to the ordering physician. Additionally, ordering healthcare providers can contact the MORL at … View more
Recommended fields not provided:
Clinical validity,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Targeted Sanger sequencing of MT-RNR1 variants: m.1095T>C, m.1494C>T, and m.1555A>G
Test Platform:
BigDye Terminator v3.1 and custom oligo primers
Test Confirmation:
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Repeat testing is performed on a secondary extraction to confirm any positive results identified.
Test Comments:
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Targeted Sanger sequencing for these selected variants in MT-RNR1 may not detect variants with a heteroplasmy below 20%.
Availability:
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Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed in-house
Test performance comments
DNA isolation from whole blood can be performed by an outside laboratory such as the ordering healthcare provider's institutional lab or a reference lab.
Interpretation performed in-house
Report generated in-house
Specimen preparation performed both in-house and at an outside lab
Wet lab work performed in-house
Test performance comments
DNA isolation from whole blood can be performed by an outside laboratory such as the ordering healthcare provider's institutional lab or a reference lab.
Analytical Validity:
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sensitivity is 99% if heteroplasmy is >20%
Assay limitations:
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Variants may not be detected if heteroplasmy is <20%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Description of PT method: Help
The MORL does intra-laboratory proficiency testing on a biannual basis.
Description of internal test validation method: Help
The MORL does intra-laboratory proficiency testing on a biannual basis.
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Description of PT method: Help
The MORL does intra-laboratory proficiency testing on a biannual basis.
Description of internal test validation method: Help
The MORL does intra-laboratory proficiency testing on a biannual basis.
VUS:
Laboratory's policy on reporting novel variations
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A routine report is provided to the ordering healthcare provider if a novel variation is identified in a gene included on our testing panels.
A routine report is provided to the ordering healthcare provider if a novel variation is identified in a gene included on our testing panels.
Recommended fields not provided:
Citations to support assay limitations,
Citations to support internal test validation method,
Citations for Analytical validity,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.