NBS BIOTIDINASE, DRIED BLOOD SPOT
This test detects biotinidase deficiency, a genetic condition that can lead to developmental delays and skin problems. Early diagnosis allows for prompt treatment and management.
NBS BIOTIDINASE, DRIED BLOOD SPOT Test in Mangaluru Overview
No special preparations needed
- Biotinidase Deficiency
This newborn screening (NBS) test detects biotinidase deficiency, a genetic disorder affecting biotin metabolism.
All newborns should undergo this test as part of routine metabolic screening.
A heel-prick blood sample is analyzed for biotinidase enzyme activity.
Low enzyme levels suggest biotinidase deficiency, which can lead to neurological and skin problems if untreated.
Yes, through lifelong biotin supplementation.
Test code
3320
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Blood Spot | NeoNatal Cards | 1 |
Specimen stability information
Blood Spot
Collection instructions
Complete CLINICAL HISTORY form including birth date & birth time.(Dried Blood spot should be ideally collected within 2nd and 5th day of life after birth).Avoid touching and smearing of the blood spots.The dried blood specimen should be transported or mailed to the laboratory as soon as they are dry (Minimum of 3 Hrs.) and no later than 24 hrs after collection.
Specimen rejection criteria
Test run frequency
Monday,Thursday TIME - 10:30
Turn around time
Next Day
Performing locations
Department
- Eia-neonatal
CPT and Loinc codes
Package price
₹700
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₹700