M0019
Maple syrup urine disorder (new-born screening)
Test Details: Maple syrup urine disease is an inherited disorder in which the body is unable to process certain amino acids. This disease is characterised by poor feeding, vomiting, lethargy, abnormal movement and delayed development. New born screening for maple syrup urine disease is performed with Tandem mass spectrometry. Immediate treatment should follow identification of affected new borne infants.
Category
Advanced Routine Diagnostics
Pre-test Information
Clinical history is required, metabolic disorders or inborn errors of metabolsim suspicion or provisional diagnosis of clincian required fasting is recommended,
Report Delivery
3 working days
Gender
All
Organ
Multi-Organ
Maple syrup urine disorder (new-born screening)
500
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