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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 15295 | SLCO1B3 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks 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.
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.
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
Loading...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.