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Test Catalog

Test ID: BTDMS    
Biotinidase Deficiency, BTD Full Gene Analysis

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Useful For Suggests clinical disorders or settings where the test may be helpful

Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening)


Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been identified in an affected individual

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase chain reaction (PCR) amplification/DNA sequencing are utilized to test for the presence of a mutation in the BTD gene.

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

BTD Gene, Full Gene Analysis