GTR Test Accession:
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GTR000566705.2
Last updated in GTR:
2019-04-17
View version history
GTR000566705.2,
last updated:
2019-04-17
GTR000566705.1,
registered in GTR:
2019-04-11
Last annual review date for the lab: 2021-04-20
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (1):
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Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Genes (1):
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MPV17 (2p23.3)
Methods (1):
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Molecular Genetics - Targeted variant analysis: RFLP
Target population: Help
Black South African infants with suspected mitochondrial neurohepatopathy
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis;
Where indicated by Urine Organic Acid results
Ordering Information
Offered by:
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Inherited Metabolic Disease group
Test short name:
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MPV17 106C>T
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buffy coat
- Cell culture
- Fibroblasts
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- Skin
Who can order: Help
- Licensed Physician
Test Order Code:
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MPV17
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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Contact the laboratory directly for specific arrangements.
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Test strategy:
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Common South African mutation testing only (MPV17:c.106C>T)
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:
Lab contact for this test
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
RFLP
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Establish or confirm diagnosis
Where indicated by Urine Organic Acid results
Where indicated by Urine Organic Acid results
Target population:
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Black South African infants with suspected mitochondrial neurohepatopathy
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
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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Sequencing confirmation of positive cases
Test Confirmation:
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Sanger Sequencing
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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>30 positive cases confirmed with Sanger Sequencing
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Alternative Assessment
Yes
Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
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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.