Hypermethioninemia Panel
Use
This test is for individuals who show symptoms or have a clinical suspicion of a disorder associated with hypermethioninemia. It is also applicable for those with confirmed persistent, isolated hypermethioninemia identified through biochemical tests. The test helps in diagnosing disorders related to methionine metabolism, which can cause elevated levels of methionine in the blood, potentially leading to neurological and developmental issues if untreated.
Special Instructions
This panel requires specific sample types depending on the platform used. For the Exome Platform, specimens include Blood, DNA, Buccal, Saliva, or Tissue. For the Genome Platform, only Blood and DNA are acceptable. Ensure correct specimen collection to avoid rejection. Eligibility for the test requires features suggestive of hypermethioninemia or elevated methionine levels detected biochemically.
Limitations
This panel does not cover all genetic variations outside the included genes related to hypermethioninemia. Although it uses NGS with CNV detection, small deletions/duplications outside the targeted regions may not be identified. The test's efficacy is subject to the quality and condition of the specimen received. Uncommon variants may pose interpretative challenges, and novel mutations may require additional study to establish clinical relevance.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided