Casandra
Casandra Test Code PG55731Version 1 (DRAFT)
Performing Lab
L1 Syndrome via the L1CAM Gene
Clinical Use
Order TestUse
This test is suitable for individuals with relevant clinical features suggestive of L1 syndrome, males with a strong X-linked family history of hydrocephalus and adducted thumbs, and females with a known or suspected reproductive risk of having a child with L1 syndrome.
Special Instructions
Not provided.
Limitations
This genetic test has not been cleared or approved by the US Food and Drug Administration. Test results should be interpreted in conjunction with other clinical and familial data. The accuracy of the test is contingent upon the quality and quantity of the sample received.
Test Details
Methodology
NGS
Biomarkers
L1CAM
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided