Tyrosine Disorders Gene Panel, Varies
Use
This test is used for the follow-up of abnormal biochemical results suggestive of a tyrosine disorder. It establishes a molecular diagnosis for patients with tyrosine disorders by identifying variants within genes known to be associated with these disorders. This allows for a more targeted diagnosis and treatment plan, helps with genetic counseling, and enables predictive testing for at-risk family members. The identification of a disease-causing variant can aid diagnosis, prognosis, clinical management, and familial screening.
Special Instructions
The test involves sequence capture and targeted next-generation sequencing followed by PCR and Sanger sequencing. Reflex tests may apply, such as the Comp Analysis using STR and fibroblast culture for genetic testing, depending on the specimen received. Prenatal specimens may require additional procedures like amniotic fluid culture, and maternal cell contamination testing. Skin biopsy may necessitate fibroblast culture, and cord blood specimens with maternal blood will require additional studies.
Limitations
Next-generation sequencing may not detect all variants in FAH, HGD, HPD, and TAT genes. False negatives can occur, and confirmation with additional methods may be needed. The ability to detect variants may be affected by factors such as DNA quality, quantity, and sequence variants in primer binding sites that could affect PCR. Copy number variants can also be challenging to detect and interpret accurately without further testing.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For cultured amniocytes or fibroblasts, ensure viable cells are obtained for processing. Skin biopsy specimens should be collected and sent promptly for cell culture.
Storage Instructions
Keep specimens under controlled conditions; do not freeze.