Enzyme Biotinidase Deficiency

Test ID: 

706108

CPT code:

82261

Synonyms:

Biotinidase Deficiency
Multiple Carboxylase Deficiency, Late Onset

Clinical Use:

Diagnose biotinidase deficiency. This test is appropriate for the confirmation of newborn screening positive biotinidase deficiency results.

Specimen Type:

Serum, frozen

Requested Volume: 

3 mL

Minimum Volume: 

1 mL

Container Type: 

Red-top tube

Collection:

Separate serum from cells within 30 minutes of collection. Transfer specimen to a plastic transport tube before freezing. To avoid delays in turnaround time when requesting multiple tests on frozen samples, please submit separate frozen specimens for each test requested.

Storage Instructions:

Freeze

Stability Requirements:

Temperature

Period

Frozen

1 month

Rejection Criteria

Quantity not sufficient for analysis; thawed specimen

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