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PTD - 179

Test Directory -  Biotinidase

Synonyms

Clinical Indications

Biotinidase deficiency is an autosomal recessive metabolic disorder in which the body is not able to process the nutrient biotin properly.

Biotin, sometimes called vitamin H, is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizure. Biotin supplementation can alleviate and sometimes totally arrest such symptoms. Symptoms of a biotinidase deficiency can appear several days after birth.

Request Form

Combined Pathology Blood form (Yellow/Black)

Availability

Analysed by the Biochemical Genetics Laboratory, Addenbrookes Hospital, if specific criteria met.

Specific Criteria

Requested by Consultant Paediatrician or if agreed with Consultant Biochemist.

Turnaround Time

2 weeks

Specimen

Plasma

Volume

0.5 ml minimum

Container


Paediatric orange top (lithium-heparin)
Samples must be transported to laboratory immediately

Causes for Rejection

Not meeting specific criteria for analysis.

Reference Range & Interpretation

Provided on the referral laboratory report.

Lab Handling

 

Processing: Cetrifuge and separate into 2 aliquots as soon as possible after collection and freeze at -20C in separating freezer (CB40), active frozen rack 110.
Referral:
BIOT and send by 1st class post to the referral laboratory or BPRO and save in separating freezer (CB40) at -20C, saved frozen rack.


Version 1.1 / June 2015                                                                                                          Approved by: Consultant Biochemist