3 - 10 days
Niemann-Pick Disease Types A and B
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Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis
This assay tests for specific mutations seen in the following diseases: Gaucher, Tay Sachs, Familial Dysautonomia, Canavan Disease, Mucolipidosis IV, Nieman-Pick Disease Types A and B, Fanconi Anemia, and Bloom Syndrome. This test may also be used for risk refinement via carrier screening for individuals of Ashkenazi Jewish ancestry.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Collect specimens in two yellow top (ACD) tubes. Send intact whole blood at room temperature. Specimens must be received by performing laboratory within 72 hours of collection.