Metachromatic Leukodystrophy (ARSA) Sequencing

Disorder Metachromatic Leukodystrophy
Gene Name ARSA
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. The accumulation of sulfatides causes demyelination of nerves. Progressive signs of leukodystrophy include a decline in intellectual abilities and motor skills to the extent that affected individuals lose the ability to walk, speak, see, and hear.  This condition can present as late-infantile, juvenile or adult forms, and it is more common in people of Israeli or Navajo descent.
Indications Metachromatic leukodystrophy should be considered in any individual with progressive neurological dysfunction and MRI evidence of a leukodystrophy. Diagnosis is typically initially made by enzyme testing. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests

Metachromatic leukodystrophy enzyme analysis

NGS Lysosomal Storage Disease Panel

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 3 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81405

Known mutation: 81403

Deletion/Duplication Analysis: 81405
Cost

$1000 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutations is $1000.  Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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