Biotinidase Deficiency via the BTD Gene
Use
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
The test options include Exome-Wide CNV Analysis and prenatal testing. Additional options such as STAT testing (which incurs a surcharge) are available. Patient and family testing combinations, such as duo or trio, are options for testing workflows.
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.
New York Approved
Methodology
NGS (Targeted)
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