BIOTINIDASE DEFICIENCY GENE ANALYSIS

Also known as: BTDMS

What you need to know about study BIOTINIDASE DEFICIENCY GENE ANALYSIS

Sample type Whole blood
Delivery time 10 business days
Do I need to fast? No

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.