Homocystinuria via the CBS Gene
Use
This test is intended for individuals with a clinical or suspected diagnosis of homocystinuria caused by CBS deficiency. It is also suitable for individuals with elevated methionine on newborn screening or elevated total homocysteine (tHcy) in plasma, as well as reproductive partners of individuals with a known pathogenic variant in the CBS gene. The test can help confirm a diagnosis, guide treatment options, and inform family planning decisions.
Special Instructions
This test should be ordered through a healthcare provider and is not intended for direct consumer testing. It requires specimen collection and submission of a completed test requisition form for processing. Turnaround time can be expedited with a STAT testing option, however, this incurs an additional charge. It is important to ensure that all necessary billing and clinical information is accurately completed to avoid delays.
Limitations
The accuracy of the test results is dependent on the quality of the sample provided and the completion of relevant clinical information. While the test is validated following CAP and CLIA guidelines, it has not been cleared or approved by the FDA. Results should be interpreted in conjunction with clinical findings, family history, and other laboratory data. Genetic heterogeneity and variable expressivity of the condition should be considered when interpreting results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided