Rotor Syndrome Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
3295 SLCO1B1 81479,81479 Order Options and Pricing
SLCO1B3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
3295Genes x (2)81479 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

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

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). Genetic defects of SLCO1B3 include large deletions and splicing site mutations (Human Gene Mutation Database).

Variants in the SLCO1B1 gene have been associated with methotrexate clearance (Ramsey et al. 2012). 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 SLCO1B1-associated or SLCO1B3-associated pharmacogenetic phenotypes.

Clinical Sensitivity - Sequencing with CNV PGxome

Detection rate of pathogenic variants in the SLCO1B1 and SLCO1B3 genes in a larger cohort of patients with Rotor syndrome is unavailable in the literature because documented SLCO1B1 and 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 panel provides 100% coverage of coding exons of the genes 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 coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

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 and/or SLCO1B3 mutations.

Genes

Official Gene Symbol OMIM ID
SLCO1B1 604843
SLCO1B3 605495
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Rotor syndrome 237450

Related Test

Name
PGxome®

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
  • 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.

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

loading Loading... ×

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.

Total Price: $
×
Copy Text to Clipboard
×