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Test Code 9533
New York approved

Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene

ASPA

N/A

Who is this test for?

Infants/neonates with white matter disease seen on neuroimaging and elevated N-acetylaspartic acid (NAA) in the urine should be considered for ASPA gene testing. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ASPA.

Method
Sequencing with CNV PGxome
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

Platform
Test type
OTHER OPTIONS
for standard institutional pricing.

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