L1 Syndrome via the L1CAM Gene
Use
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
The test uses Next-Generation Sequencing (NGS) with CNV analysis on an Exome or Genome Platform. Additional options include Exome-Wide CNV Analysis and STAT testing, with applicable surcharges.
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.
Methodology
NGS
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