Cystinuria Gene Panel, Varies
Use
This test is useful for follow-up of abnormal biochemical results suggestive of cystinuria. It establishes a molecular diagnosis for patients and identifies variants within genes associated with cystinuria, enabling predictive testing for at-risk family members. Identification of a disease-causing variant aids in diagnosis, prognosis, clinical management, familial screening, and genetic counseling for cystinuria.
Special Instructions
Prenatal specimens may incur additional charges for required cultures and maternal cell contamination testing. For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be performed at an additional charge if viable cells are not obtained.
Limitations
The test is designed to detect single nucleotide and copy number variants in only 3 genes associated with cystinuria: SLC3A1, SLC7A9, and PREPL. It may not detect all possible genetic variations or mutations associated with cystinuria.
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