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Unit Code 89012:
Biotinidase Deficiency, BTD Full Gene Analysis

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

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.
(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

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

BTDMS

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

Soft-BTDMS