Metachromatic Leukodystrophy – Enzyme Analysis
| Disease name | Metachromatic leukodystrophy | |
| Enzyme Name | Arylsulfatase A | |
| Clinical info | Metachromatic leukodystrophy is an autosomal recessive condition caused by a deficiency of arylsulfatase A, an enzyme crucial to the breakdown of sulfatides in the body. Metachromatic leukodystrophy should be considered in any individual with progressive neurological dysfunction and MRI evidence of a leukodystrophy. This condition can present in late-infantile, juvenile and adult forms. | |
| Indications | Patients with a suspected diagnosis of metachromatic leukodystrophy through clinical symptoms and MRI findings. Prenatal diagnosis and carrier testing via enzyme analysis are not available. | |
| Methodology | Measurement of enzyme activity | |
| Specimen Requirements | Arylsulfatase A can be measured from leukocytes or fibroblasts. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. | |
| Transport | Leukocytes must arrive at the laboratory within 24 hours of blood draw. Please contact the laboratory before transporting tissue for an enzyme assay. Fresh tissue for culture should be sent by courier or 24-hour delivery | |
| Turnaround time | 14 days Cell culture can take 1-4 weeks and may lengthen turnaround time. |
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| CPT Codes | 82657 | |
| Cost | $200 | |
| Contact | For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS or Tim Wood, PhD at 1-800-473-9411 | |
Form Needed
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Kellie King, MS, CGC
Biochemical Lab
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.