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BIOTINIDASE DEFICIENCY GENE ANALYSIS
What you need to know about study BIOTINIDASE DEFICIENCY GENE ANALYSIS
What is this study and what is it for?
Second-tier test to confirm biotinidase deficiency (indicated by biochemical tests or newborn screening). Carrier testing of people with a family history of biotinidase deficiency, but no disease-causing mutations have been identified in an affected person.
What type of sample is needed?
Whole blood
Preparation / Instructions
No special indications
Delivery time
10 business days
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The information published on this site is for informational and educational purposes. It is not a substitute for medical consultation, professional diagnosis, or treatment prescribed by a specialist. If you have any questions regarding symptoms, test results, or laboratory studies, please consult your doctor.