Casandra
Casandra Test Code PG25593Version 1 (DRAFT)
Performing Lab
Biotinidase Deficiency via the BTD Gene
Clinical Use
Order TestUse
This test is designed for individuals with clinical signs or a suspected diagnosis of biotinidase deficiency, those with abnormal newborn screening or biochemical test results suggestive of the deficiency, and reproductive partners of individuals with known pathogenic variants in the BTD gene.
Special Instructions
Not provided.
Limitations
The test conducts NGS with CNV analysis using Exome or Genome platforms, which may not fully cover all possible genomic alterations. It has not been cleared or approved by the US FDA but is performed under CAP and CLIA regulations.
Test Details
New York Approved
Methodology
NGS (Targeted)
Biomarkers
BTD
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