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Dubin-Johnson Syndrome via the ABCC2 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
15217 ABCC2 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15217ABCC281479 81479,81479 $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 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn 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

  • Ben Dorshorst, PhD

Clinical Features and Genetics

Clinical Features

Dubin-Johnson syndrome (OMIM# 237500) is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia (Wada et al. 1998; Toh et al. 1999; Mor-Cohen et al. 2001). Due to a defect in the transfer of endogenous and exogenous anionic conjugates from hepatocytes into the bile, patients have an accumulation of melanin-like pigment in hepatocytes. Jaundice appears during adolescence or early adulthood in most affected people.

Genetics

Dubin-Johnson syndrome is an autosomal recessive disorder due to deficiency of the canalicular multispecific organic anion transporter (also known as the multidrug resistance protein 2) located in the apical membrane of hepatocytes. The protein is encoded by the ABCC2 (also known as MRP2 or cMOAT) gene (Wada et al. 1998; Toh et al. 1999). Genetic defects of ABCC2 throughout the whole coding region (32 coding exons) include missense, nonsense, splicing site mutations, small deletion/insertions and exon-level large deletions (Human Gene Mutation Database). Founder mutations were found in both Iranian Jewish (I1173F) and Moroccan Jewish patients (R1150H) (Mor-Cohen et al. 2001).

Clinical Sensitivity - Sequencing with CNV PG-Select

Mutation detection rate of the ABCC2 gene in a larger cohort of patients with Dubin-Johnson syndrome is unavailable in the literature because documented ABCC2 mutations have only been reported in individual cases. Analytical sensitivity, however, should be high as nearly all causative mutations are detectable by sequencing.

Testing Strategy

This test is performed using Next-Generation sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the ABCC2 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with Dubin-Johnson syndrome. Testing is also indicated for family members of patients who have known ABCC2 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ABCC2.

Gene

Official Gene Symbol OMIM ID
ABCC2 601107
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Dubin-Johnson Syndrome AR 237500

Citations

  • Human Gene Mutation Database (Bio-base).
  • Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U. 2001. Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. J. Biol. Chem. 276: 36923-36930. PubMed ID: 11477083
  • Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y, Adachi Y, Sakisaka S, Kuwano M. 1999. Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Am. J. Hum. Genet. 64: 739-746. PubMed ID: 10053008
  • Wada M, Toh S, Taniguchi K, Nakamura T, Uchiumi T, Kohno K, Yoshida I, Kimura A, Sakisaka S, Adachi Y, Kuwano M. 1998. Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. Hum. Mol. Genet. 7: 203-207.  PubMed ID: 9425227

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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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 Method (Backbone)


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.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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