GTR Test Accession:
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GTR000613176.2
CAP
Last updated in GTR:
2024-12-19
View version history
GTR000613176.2,
last updated:
2024-12-19
GTR000613176.1,
registered in GTR:
2024-02-19
Last annual review date for the lab: 2024-12-19
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At a Glance
Test purpose:
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Diagnosis;
Monitoring
Conditions (1):
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Hereditary pheochromocytoma-paraganglioma
Analytes (1):
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Homovanillic acid (HVA) and Vanillylmandelic acid (VMA)
Methods (1):
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Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-MS)
Target population: Help
Not provided
Clinical validity:
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Diagnosis and monitoring treatment of neuroblastoma and pheochromocytoma. The combination …
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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HVMA
Specimen Source:
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- Urine collected on one 10 X 10 cm absorbent filter paper
- Urine
Who can order: Help
- Genetic Counselor
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
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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Urine, random collection, 24 hr collection, or urine absorbed onto filter paper
If using filter paper to obtain collection, obtain filter paper urine collection kit from the Biochemical Genetics Laboratory. Order Code: LAB6334
For additional information, use the url to the Lab website.
Order URL
If using filter paper to obtain collection, obtain filter paper urine collection kit from the Biochemical Genetics Laboratory. Order Code: LAB6334
For additional information, use the url to the Lab website.
Order URL
Test service:
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Biochemical Genetics
Comment: Abbrev Code: HVMA (includes HVA and VMA)
OrderCode: LAB6334
Comment: Abbrev Code: HVMA (includes HVA and VMA)
OrderCode: LAB6334
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Analytes
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Total analytes: 1
Analyte | Associated Condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Analyte
Gas chromatography–mass spectrometry (GC-MS)
Waters Xevo
Clinical Information
Test purpose:
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Diagnosis;
Monitoring
Clinical validity:
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Diagnosis and monitoring treatment of neuroblastoma and pheochromocytoma. The combination of HVA and VMA will give a positive diagnosis in 92% of cases of neuroblastoma. More than 90% of patients with pheochromocytoma will have an elevated VMA. If both VMA and metanephrines are tested, >98% of patients with pheochromocytomas will …
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Clinical utility:
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Variant Interpretation:
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.
Yes.
Sample reports:
Sample Negative Report
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Sample Negative Report
Sample Positive Report Help
Sample Positive Report
Sample Negative Report
Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
Target population,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?
Technical Information
Test Procedure:
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Gas chromatography/Mass spectrometry
Test Platform:
None/not applicable
Test Comments:
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Drugs such as L-dopa, dopamine, epinephrine and norepinephrine are metabolized to HVA and VMA and will fictitiously elevate their levels in the urine. Therefore, the patient should not be on such drugs when collecting the urine.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Diagnosis and monitoring treatment of neuroblastoma and pheochromocytoma. The combination of HVA and VMA will give a positive diagnosis in 92% of cases of neuroblastoma. More than 90% of patients with pheochromocytoma will have an elevated VMA. If both VMA and metanephrines are tested, >98% of patients with pheochromocytomas will …
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Assay limitations:
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Drugs such as L-dopa, dopamine, epinephrine and norepinephrine are metabolized to HVA and VMA and will fictitiously elevate their levels in the urine. Therefore, the patient should not be on such drugs when collecting the urine.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Description of PT method: Help
Gas chromatography/Mass spectrometry
CAP Testing Information Help
CAP/ACMG Biochemical Genetics; Biochemical genetics; BGL
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Description of PT method: Help
Gas chromatography/Mass spectrometry
CAP Testing Information Help
CAP/ACMG Biochemical Genetics; Biochemical genetics; BGL
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Suggested reading:
Clinical resources:
Molecular resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.