Biotinidase

Test information: This is a rare, but easily treatable disorder, and should be investigated for in all neonates and infants with any clinical signs including; seizures, hypotonia, ataxia, developmental delay, hearing & vision impairment, alopecia and skin rashes. The test can be performed even if started Biotin replacement. Low levels can be seen due to immaturity and liver dysfunction, especially in premature neonates.

Specimen Type(s)

• Blood;

Other Acceptable Specimen Type(s)

N/A

Specimen Container - Adult

• Purple Top BD;

Specimen Container - Paediatric

• Lilac Top Microtainer BD;

Analytes

• N/A;

Part of a test profile?

No

Volume (min) of sample to be sent to laboratory

min 200ul

Patient Preparation, Sample Handling and Transport

Please hand deliver promptly to the laboratory.

Maximum add on time

N/A

Units and Reference Ranges / Interpretation

See the report.

UKAS number

8061

UKAS accredited test?

Yes

Comments

N/A

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