| EX1530 MUCOPOLYSACCHARIDOSIS (MPS) TYPE VI (MAROTEAUX LAMY) QUANTITATIVE, BLOOD |
| Specimen: |
10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) OR Green Top (Sodium Heparin) tubes. Ship refrigerated. DO NOT FREEZE. Provide brief clinical history. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 2 hrs |
48 hrs |
NA |
|
| Method: |
Enzyme assay |
| Comment: |
This tests deficiency of enzyme Aryl- Sulphatase B. |
| Report: |
Contact us to know the TAT. |
| Usage: |
Maroteaux-Lamy is Type VI MPS due to deficient enzyme activity of Arylsulphatase B. It shows an autosomal recessive inheritance & onset is late infantile. Dermatan sulfate is excreted in the urine. Patients present with hepatosplenomegaly, skeletal dysplasia, corneal clouding, coarse facies & valvular heart disease. An important hematologic finding is granulated neutrophils & lymphocytes. No cognitive degeneration is present. |
| Doctor Specialty: |
Pediatrician |
| Disease: |
Inborn errors of metabolism |
| Components: |
|
| Courier Charges: |
0.00 |
| Home Collection: |
Available (*T&C Apply) |
| Department: |
GENETICS |
| Pre Test Information: |
Provide brief clinical history. |
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