Phenylalanine Disorders Gene Panel, Varies
Use
This test is useful for follow-up in cases of abnormal biochemical results suggestive of a phenylalanine disorder. It helps establish a molecular diagnosis in patients with known phenylalanine disorders by identifying variants in genes associated with these conditions. This allows for predictive testing of at-risk family members. Identifying a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for phenylalanine disorders.
Special Instructions
If prenatal specimens are received, additional cultures or tests, such as amniotic fluid culture or maternal cell contamination testing, will incur extra charges. Skin biopsy or cultured fibroblast specimens require a fibroblast culture at an additional charge. Notification is provided if viable cells are not obtained.
Limitations
The test is limited to the identification of single nucleotide and copy number variants in 10 specific genes: DDC, DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SLC18A2, SPR, and TH, associated with phenylalanine disorders. Variants outside of these genes will not be detected. This limitation means it will not identify other genetic causes of phenylalanine disorders beyond those included in the test panel.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For prenatal specimens, an amniotic fluid culture if amniotic fluid or cultured amniocytes are received. For chorionic villi, a fibroblast culture. Maternal cell contamination testing is required. For skin biopsy, perform fibroblast culture.