Wilson Disease / Hepatolenticular Degeneration via the ATP7B Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7871 ATP7B 81406 81406,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7871ATP7B81406 81406, 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Wilson disease (WD, OMIM 277900), also called hepatolenticular degeneration, is a disorder of copper metabolism. WD results from the toxic accumulation of copper, mainly in the liver, brain, kidneys, and eyes. WD is characterized by an extensive clinical variability between individuals with regards to age of onset, severity, and clinical presentation. The hallmarks of WD include a gold-brown ring (Kayser-Fleischer ring) around the edge of the iris and in the rim of the cornea, reduced serum levels of ceruloplasmin, and elevated urinary copper excretion. Depending on which organ systems are affected, symptoms may also include jaundice, enlargement of the liver or spleen, fatigue, seizures, slurred speech, difficulty swallowing, tremor, dystonia, personality changes, depression, and psychosis. Age of onset varies between three and seventy years of age. WD occurs worldwide, with an estimated incidence between 1:30,000 and 1:100,000 (Ala et al. Lancet 369:397-408, 2007; de Bie et al. J Med Genet 44:673-688, 2007). It is, however, most common in the Sardinian population.

Genetics

Wilson Disease (WD) is inherited with an autosomal recessive manner and results from variants in the ATP7B gene (Bull et al. Nat Genet 5:327-337, 1993; Tanzi et al. Nat Genet 5:344-350, 1993). Over 500 variants have been detected in patients with WD, most of which are missense/nonsense, small insertions/deletions and splicing. Gross insertions, deletions and complex rearrangements are rare. Although most WD-causing variants are found only in single families, three variants are prevalent. These are the H1069Q substitution in European and North American populations, the R778L substitution in Southeast Asia (Ferenci Hum Genet 120:151-159, 2006), and a 15-bp deletion in the gene promoter in the Sardinian population (Loudianos et al. Hum Mutat 14:294-303, 1999). The ATP7B gene encodes an ATPase which participates in the transport of copper ions across membranes.

Clinical Sensitivity - Sequencing with CNV PG-Select

This test detects variants in about 98% of individuals with WD (Cox and Roberts, GeneReviews, 2006).

Testing Strategy

This test provides full coverage of all coding exons of the ATP7B gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Patients with WD, their siblings and children, and symptomatic relatives are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ATP7B.

Gene

Official Gene Symbol OMIM ID
ATP7B 606882
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Wilson's Disease AR 277900

Citations

  • Ala, A., et.al. (2007). PubMed ID: 17276780
  • Bull, P. C., et.al. (1993). PubMed ID: 8298639
  • de Bie, P., et.al. (2007). PubMed ID: 17717039
  • Diane W Cox, Eve Roberts (2006). "Wilson Disease." PubMed ID: 20301685
  • Ferenci, P. (2006). PubMed ID: 16791614
  • Loudianos, G., et.al. (1999). PubMed ID: 10502776
  • Tanzi, R. E., et.al. (1993). PubMed ID: 8298641

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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