NBS Maple Syrup Urine Disorders, Dried Blood Spot
This test screens for maple syrup urine disease (MSUD), a rare genetic disorder that can cause brain damage if untreated. It detects elevated levels of branched-chain amino acids in newborns.
NBS Maple Syrup Urine Disorders, Dried Blood Spot Test in Madgaon Overview
No special preparations needed
- Maple Syrup Urine Disease
This test is part of newborn screening panels and detects Maple Syrup Urine Disease (MSUD), a rare genetic disorder affecting amino acid metabolism. Early detection is crucial to prevent severe complications.
It screens newborns for MSUD to enable early diagnosis and management. Without treatment, MSUD can lead to brain damage, coma, or death within days after birth.
A few drops of blood are collected from the newborn’s heel and spotted on a filter paper. The sample is analyzed using tandem mass spectrometry to detect elevated levels of branched-chain amino acids.
Elevated levels of leucine, isoleucine, and valine suggest MSUD. Positive results are followed up with confirmatory tests and immediate dietary management.
No preparation is needed. The test is typically done 24–72 hours after birth as part of routine newborn screening.
Test code
3322
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
₹450
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₹450