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Laboratory

Exult Diagnostics, Dr. Lal PathLabs

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AMINO ACIDS MAPLE SYRUP URINE DISEASE (MSUD) PANEL, PLASMA

 4200

EX0075      AMINO ACIDS MAPLE SYRUP URINE DISEASE (MSUD) PANEL, PLASMA
Specimen: 2 mL (1 mL min.) plasma from 1 Green Top (Sodium Heparin) tube. Transfer plasma into a sterile screw capped vial. Ship refrigerated or frozen. Clinical details and drug history must accompany sample.
Stability:
Room Refrigerated Frozen
6 hrs 48 hrs 2 weeks
Method: LC-MS/MS
Comment:
Report: Contact us to know the TAT.
Usage: This assay confirms the presence of Leucine, Isoleucine, Valine & Alloisoleucine for the diagnosis of MSUD. It also aids in the follow-up of patients with MSUD and monitors dietary compliance. These patients present with a “maple syrup” odor, lethargy, vomiting, encephalopathy, seizures, protein intolerance & intellectual disability. The inheritance of MSUD is autosomal recessive.
Doctor Specialty: Pediatrician
Disease: Inborn errors of metabolism
Components:
Courier Charges: 0.00
Home Collection: Available (*T&C Apply)
Department: GENETICS
Pre Test Information: Clinical details and drug history must accompany the sample.