Invitae Elevated Tyrosine (Tyrosinemia) Panel
Use
The Invitae Elevated Tyrosine (Tyrosinemia) Panel analyzes genes associated with elevated tyrosine on newborn screening (NBS) or plasma amino acid analysis. Genetic testing may confirm a diagnosis and help guide treatment and management decisions. Timely diagnosis and metabolic management are critical for long-term outcomes. Identifying disease-causing variants allows for accurate risk assessment and carrier status determination for at-risk relatives. The panel covers three types of Tyrosinemia: type 1 (linked with FAH), type 2 (linked with TAT), and type 3, also known as Hawkinsinuria (linked with HPD).
Special Instructions
The test can be customized by selecting different genes. Invitae is CAP-accredited and CLIA-certified, providing full-gene sequencing and deletion/duplication analysis using NGS technology.
Limitations
The assay achieves >99% analytical sensitivity and specificity for certain variants, but limitations exist for structural rearrangements, complex sequences, and certain deletion/duplication analyses. Non-coding and promoter regions are generally not covered. The test may not detect mosaicism, phasing, or mapping ambiguities.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)