Wilson Disease

Wilson disease is an inherited progressive disorder of copper metabolism, causing liver, neurological, and psychiatric symptoms. Accurate diagnosis is essential to ensure appropriate treatment in order to prevent and/or reduce the severity of symptoms. 

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Test Code: 1840 Test Name: ATP7B seq TAT 2-4 weeks Gene: 1
Test Code: 1842 Test Name: ATP7B specific site analysis TAT 7-14 days Gene: 1

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Mutation Detection Rate

This test can detect >99.9% of described mutations in ATP7B, when present (analytic sensitivity).

Test Description

Our Wilson disease genetic testing includes Next-Generation sequencing (NGS) of the ATP7B 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. 

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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