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Test ID: BTDZ    
Biotinidase Deficiency, BTD Full Gene Analysis, Varies

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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

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Amplification and DNA sequencing are utilized to test for the presence of a mutation in the BTD gene.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

BTD Gene, Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

BTDMS