Canavan Disease

Canavan disease is an inherited, progressive neurodegenerative disorder in which the nerves in the brain deteriorate over time.  People with this condition may have developmental delay, intellectual disability, low muscle tone, and seizures.  While most common in people of Ashkenazi Jewish descent, it can occur in any ancestry group.

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Test Code: 1222 Test Name: ASPA specific site analysis TAT 7-14 days Gene: 1
Test Code: 1226 Test Name: ASPA seq and del/dup TAT 2-4 weeks Gene: 1

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Mutation Detection Rate

This test can detect >99.9% of described mutations in ASPA, when present (analytic sensitivity).

Test Description

Our Canavan disease genetic testing includes next generation sequencing (NGS) and deletion/duplication analysis of the ASPA gene. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed via multiplex ligation probe amplification (MLPA, MRC Holland).

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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