Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: 3MGAP
3-Methylglutaconic Aciduria Panel, Varies
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria
Establishing a molecular diagnosis for patients with 3-methylglutaconic aciduria
Identifying variants within genes known to be associated with 3-methylglutaconic aciduria, allowing for predictive testing of at-risk family members
Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 17 genes associated with 3-methylglutaconic aciduria: AGK, ATP5F1E, ATPAF2, AUH, CLPB, CPS1, DNAJC19, GFER, HMGCL, HTRA2, OPA3, POLG, SERAC1, SUCLA2, TAZ, TIMM50, TMEM70. See Targeted Genes and Methodology Details for 3-Methylglutaconic Aciduria Panel in Special Instructions and Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for 3-methylglutaconic aciduria.
Additional first-tier testing may be considered/recommended. For more information see Ordering Guidance.
Special Instructions Library of PDFs including pertinent information and forms related to the test
Method Name A short description of the method used to perform the test
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
3-methylglutaconic aciduria
3-MG-CoA-HYDRATASE DEFICIENCY
HMG-CoA lyase deficiency