| 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. |
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