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Rotor Syndrome via the SLCO1B1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8077 SLCO1B1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8077SLCO1B181479 81479(x2) $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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 SLCO1B1 found so far include nonsense, splicing site mutations and large deletions (Human Gene Mutation Database). Variants in the SLCO1B1 gene have been associated with methotrexate clearance (Ramsey et al. 2012). However, genotype-phenotype correlations are not yet clear. Therefore, this test is NOT for SLCO1B1-associated pharmacogenetic phenotypes.

Clinical Sensitivity - Sequencing with CNV PGxome

Detection rate of pathogenic variants in the SLCO1B1 gene in a large cohort of patients with Rotor syndrome is unavailable in the literature because documented SLCO1B1 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 provides full coverage of all coding exons of the SLCO1B1 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with Rotor syndrome. Testing is also indicated for family members of patients who have known SLCO1B1 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLCO1B1.

Gene

Official Gene Symbol OMIM ID
SLCO1B1 604843
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Rotor syndrome 237450

Related Test

Name
Rotor Syndrome Panel

Citations

  • Human Gene Mutation Database (Bio-base).
  • Ramsey LB, Bruun GH, Yang W, Treviño LR, Vattathil S, Scheet P, Cheng C, Rosner GL, Giacomini KM, Fan Y, Sparreboom A, Mikkelsen TS, et al. 2012. Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. Genome Res. 22: 1–8. PubMed ID: 22147369
  • Schäffer AA. 2013. Digenic inheritance in medical genetics. J. Med. Genet. 50: 641–652.  PubMed ID: 23785127
  • 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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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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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