Tyrosinemia Panel

Casandra

Casandra Test Code PG65184Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 5011CPT Code 81479

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The Tyrosinemia Panel involves NGS sequencing with CNV analysis of 4 genes relevant to the diagnosis of tyrosinemia. The analysis is carried out using either Exome or Genome platform based on the specimen provided.

NGS with CNV • CGP