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Test Name

Canavan Disease Mutation Analysis

CPT Code(s)

81200

Methodology

Polymerase Chain Reaction (PCR) • Next Generation Sequencing

Limitations

The test detects four mutations that are responsible for approximately 99% of mutations common among Ashkenazi Jews and 60% among those with Canavan Disease in other populations.

Reference Range(s)

See Laboratory Report

Clinical Significance

Canavan Disease is an autosomal recessive disease that results in demyelination and spongy degeneration of the brain. Canavan Disease carrier rate is approximately 1 in 40 among those of Ashkenazi Jewish heritage. This test detects approximately 99% of mutations common among Ashkenazi Jews and 60% in other populations.

To view specimen requirements and codes please Select a regional laboratory.

Not sure which laboratory serves your office? Call us 866-MYQUEST (866-697-8378)

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.

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Canavan Disease Mutation Analysis
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