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
For cases where genetic testing previously showed a single variant, this test can help confirm or exclude the presence of the 57-kb deletion in the CTNS gene. It is beneficial for family studies to confirm genetic findings in known positive relatives.
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
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