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.
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
Polymerase chain reaction (PCR) amplification/DNA sequencing are utilized to test for the presence of a mutation in the BTD gene.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
BTD Gene, Full Gene Analysis