Test ID 2OHGP 2-Hydroxyglutaric Aciduria Gene Panel, Varies
Advisory Information
The recommended first-tier test for 2-hydroxyglutaric aciduria is urine organic acids; order OAU/Organic Acids Screen, Urine.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions
Useful For
Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria
Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria
Identifying variants within genes known to be associated with 2-hydroxyglutaric aciduria, allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 4 genes associated with 2-hydroxyglutaric aciduria: D2HGDH, IDH2, L2HGDH, SLC25A1. See Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for 2-hydroxyglutaric aciduria.
Additional first tier testing may be considered/recommended. For more information see Advisory Information.
Special Instructions
Method Name
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
2-OH Glutaric Aciduria Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reference Values
An interpretive report will be provided.
Performing Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81479
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
2OHGP | 2-OH Glutaric Aciduria Gene Panel | In Process |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
608764 | Test Description | 62364-5 |
608765 | Specimen | 31208-2 |
608766 | Source | 31208-2 |
608767 | Result Summary | 50397-9 |
608768 | Result | 82939-0 |
608769 | Interpretation | 69047-9 |
608770 | Resources | In Process |
608771 | Additional Information | 48767-8 |
608772 | Method | 85069-3 |
608773 | Genes Analyzed | 48018-6 |
608774 | Disclaimer | 62364-5 |
608775 | Released By | 18771-6 |