Biotinidase Deficiency via the BTD Gene

Clinical Use

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

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