Biotinidase Activity Quantitative Blood Test
Biotinidase Activity Quantitative Blood Test test available at DNA Labs India for ₹5,200. Uses Enzyme Assay on Serum or Plasma samples. Results in Results are usually available on the same day if the sample is received by 4 pm.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
This test is essential to quantitatively measure the activity of the biotinidase enzyme in the blood, aiding in the diagnosis of biotinidase deficiency. It helps identify individuals with reduced or absent enzyme activity, enabling early intervention with biotin therapy to prevent metabolic crises and long-term neurological damage.
- Test Code
- 206
- Price
- ₹5,200
- Sample Type
- Serum or Plasma
- Result Time
- Results are usually available on the same day if the sample is received by 4 pm.
- Fasting Required
- No
- Method
- Enzyme Assay
Sample Collection
No special preparation required. Inform your healthcare provider about any medications or supplements being taken.
Method: Blood draw
Laboratory Analysis
A standard blood draw will be performed by a trained phlebotomist. The sample is collected from a vein in the arm.
Report Delivery
Apply pressure to the puncture site with a cotton ball or bandage to stop bleeding. Minor bruising may occur.
Timeline: Results are usually available on the same day if the sample is received by 4 pm.
Patient Instructions
About This Test
Who Should Get This Test
This test is essential to quantitatively measure the activity of the biotinidase enzyme in the blood, aiding in the diagnosis of biotinidase deficiency. It helps identify individuals with reduced or absent enzyme activity, enabling early intervention with biotin therapy to prevent metabolic crises and long-term neurological damage.
How to Prepare
- Collect 2 mL (minimum 1 mL) of serum from a red-top SST tube or plasma from a green-top sodium heparin tube.
- Ship the sample refrigerated or frozen to maintain stability.
- Label the sample with patient details and test information.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis of biotinidase deficiency through this test is crucial for timely biotin supplementation, which can prevent irreversible neurological and developmental complications in children."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
Understanding Your Results
Normal Activity
Enzyme activity within normal reference range, suggesting no deficiency.
Low Activity
Reduced enzyme activity, indicating potential biotinidase deficiency. Correlation with clinical symptoms is recommended.
Absent Activity
No detectable enzyme activity, strongly suggestive of severe biotinidase deficiency requiring immediate treatment.
Consult a healthcare provider if your child exhibits symptoms such as seizures, developmental delays, hearing loss, or unexplained skin rashes, especially if there is a family history of metabolic disorders.
Risks & Considerations
- ●Minor pain or bruising at the needle site
- ●Rare risk of infection or excessive bleeding
- ●Fainting or dizziness in some individuals
Frequently Asked Questions
What is biotinidase deficiency?
What are the common symptoms of biotinidase deficiency?
How is biotinidase deficiency diagnosed?
What does the Biotinidase Activity Quantitative Blood Test involve?
Is fasting required for this test?
What is the cost of the Biotinidase Activity Quantitative Blood Test at DNA Labs India?
How long does it take to get the test results?
Is the test covered by health insurance?
Who should get tested for biotinidase deficiency?
What happens if biotinidase deficiency is left untreated?
How is biotinidase deficiency treated?
Does DNA Labs India offer home sample collection for this test?
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