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
| • | Molecular Genetics - Biochemical Disorders Patient Information Sheet |
| • | Informed Consent for DNA Testing |
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
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