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MPV17 common South African mutation
Clinical Genetic Test
Help
offered by
Inherited Metabolic Disease group
GTR Test Accession: Help GTR000566705.2
INHERITED DISEASEDYSMORPHOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2019-04-17
View version history
Last annual review date for the lab: 2021-04-20 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Genes (1): Help
MPV17 (2p23.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: RFLP
Target population: Help
Black South African infants with suspected mitochondrial neurohepatopathy
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Where indicated by Urine Organic Acid results
Ordering Information
Offered by: Help
Inherited Metabolic Disease group
Test short name: Help
MPV17 106C>T
Specimen Source: Help
  • 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: Help
MPV17
Contact Policy: Help
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: Help
Contact the laboratory directly for specific arrangements.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Test strategy: Help
Common South African mutation testing only (MPV17:c.106C>T)
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
RFLP
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
Where indicated by Urine Organic Acid results
Target population: Help
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: Help
Sequencing confirmation of positive cases
Test Confirmation: Help
Sanger Sequencing
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
>30 positive cases confirmed with Sanger Sequencing
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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: Help
Category: Not Applicable
Additional Information
Consumer resources:

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.