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Rotor Syndrome via the SLCO1B3 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
15295 SLCO1B3 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15295SLCO1B381479 81479(x2) $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

  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostic compounds (van de Steeg et al. 2012). Mild jaundice begins shortly after birth or in childhood.

Genetics

Rotor syndrome is an autosomal recessive disorder caused by a concurrent complete deficiency of the major hepatic drug uptake transporters OATP1B1 and OATP1B3, encoded by SLCO1B1 and SLCO1B3 genes, respectively (van de Steeg et al. 2012). This obligate two-gene disorder represents one of the clearest examples of “digenic inheritance” in human disease (Schäffer 2013). A complete deficiency of either OATP1B1 or OATP1B3 does not cause obvious jaundice (van de Steeg et al. 2012). Genetic defects of SLCO1B3 include large deletions and splicing site mutations (Human Gene Mutation Database).

Variants in the SLCO1B3 gene have been associated with hepatic clearance of substrate drugs such as xenobiotics including statins, taxanes, and mycophenolic acid (Schwarz et al. 2011). However, genotype-phenotype correlations are not yet clear. Therefore, this test is NOT for SLCO1B3-associated pharmacogenetic phenotypes.

Clinical Sensitivity - Sequencing with CNV PG-Select

Detection rate of pathogenic variants in the SLCO1B3 gene in a large cohort of patients with Rotor syndrome is unavailable in the literature because documented SLCO1B3 pathogenic variants have only been reported in limited cases. Of note, large deletions in the region of the SLCO1B1 and SLCO1B3 genes are apparently common in this disorder and may encompass both genes (van de Steeg et al. 2012).

Testing Strategy

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

This test provides full coverage of all coding exons of the SLCO1B3 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 Rotor syndrome. Testing is also indicated for family members of patients who have known SLCO1B3 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLCO1B3.

Gene

Official Gene Symbol OMIM ID
SLCO1B3 605495
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Rotor syndrome 237450

Citations

  • Human Gene Mutation Database (Bio-base).
  • Schäffer AA. 2013. Digenic inheritance in medical genetics. J. Med. Genet. 50: 641–652.  PubMed ID: 23785127
  • Schwarz UI, Meyer zu Schwabedissen HE, Tirona RG, Suzuki A, Leake BF, Mokrab Y, Mizuguchi K, Ho RH, Kim RB. 2011. Identification of novel functional organic anion-transporting polypeptide 1B3 polymorphisms and assessment of substrate specificity. Pharmacogenet. Genomics 21: 103–114. PubMed ID: 21278621
  • van de Steeg E , Stránecký V, Hartmannová H, Nosková L, Hrebícek M, Wagenaar E, Esch A van, Waart DR de, Oude Elferink RPJ, Kenworthy KE, Sticová E, al-Edreesi M, et al. 2012. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J. Clin. Invest. 122: 519-528. PubMed ID: 22232210

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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