Cystinosis via the CTNS Gene, 57-kb Deletion
Use
This test is designed for individuals who have had prior genetic testing that was negative or showed a single variant in an autosomal recessive disease where clinical suspicion remains high for a disorder related to the CTNS gene. It is also suited for family members of patients who tested positive for particular genetic deletions, duplications, or inversions.
Special Instructions
Not provided.
Limitations
This test only screens for the 57-kb deletion in the CTNS gene and will not detect other mutations or variants in the gene. It is not appropriate for diagnosing conditions due to other genetic mutations outside of the CTNS gene or for patients not at risk for the specific deletion targeted by this test. False negatives may occur if other genetic aberrations not covered by this test are responsible for clinical symptoms.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
CTNS
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided