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Hyperammonemia Hyperornithinemia Homocitrullinuria Syndrome (HHH)
Clinical Genetic Test
Help
offered by
Revvity Omics
View lab's test page
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GTR Test Accession: Help GTR000167647.2
INHERITED DISEASEMETABOLIC DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2014-02-19
View version history
Last annual review date for the lab: 2024-02-01 LinkOut
At a Glance
Test purpose: Help
Screening
Conditions (1): Help
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Analytes (1): Help
Amino acids
Methods (1): Help
Biochemical Genetics - Analyte: 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
Revvity Omics
View lab's website
View lab's test page
Specimen Source: Help
  • Dried blood spot (DBS) card
Who can order: Help
  • Health Care Provider
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.
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Tandem mass spectrometry (MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
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
Test Comments: Help
Also offer newborn screening
Please call if the patient is less than one week of age.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Based upon testing of 100,000 specimens
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
Centers for Disease Control and Prevention Newborn Screening Quality Assurance Program, CDC DLS
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.