Tyrosinemia Panel
Use
This test is designed for individuals with relevant clinical features or a suspected diagnosis of tyrosinemia. It is also suitable for individuals who have abnormal newborn screening results indicative of tyrosinemia, or biochemical or enzyme assay test results consistent with the condition.
Special Instructions
For any special instructions, refer to the clinical features checklist or clinical notes/records that must accompany the test requisition. STAT testing is available with a 25% surcharge, but this surcharge will not apply if the report is delivered after 16 days. Exome-wide CNV analysis is available as an add-on option with specific platforms.
Limitations
Testing is performed using NGS with CNV analysis on either the Exome or Genome platform. Performance validation was conducted as per CAP and CLIA regulations. The tests have not been cleared or approved by the FDA. Interpretation of results depends on the quality of the clinical information provided, and limitations may arise in cases of incomplete data.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided