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Ethylmalonic Encephalopathy
Clinical Genetic Test
Help
offered by
Clinical Biochemical Genetics Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000334705.1
CAP
INHERITED DISEASEMITOCHONDRIAL DISEASE
Registered in GTR: 2013-05-14
View version history
Last annual review date for the lab: 2024-10-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Ethylmalonic encephalopathy
Analytes (2): Help
Butyrylcarnitine; Ethylmalonic acid
Methods (2): Help
Biochemical Genetics - Analyte: Gas Chromatography-Mass Spectrometry; Tandem mass spectrometry (MS/MS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Clinical Biochemical Genetics Diagnostic Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Plasma
  • Urine
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Registered Nurse
Test Order Code: Help
110001, 110013
View other test codes
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 2
Analyte Associated Condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Analyte
Gas Chromatography-Mass Spectrometry
Analyte
Tandem mass spectrometry (MS/MS)
AbSciex API4000
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
20 external blinded samples were tested and compared with external lab results.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
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.