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Intrahepatic Cholestasis via the ABCB11 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
ABCB11 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4077ABCB1181479 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.


Genetic Counselors


  • Chansonette Badduke, PhD

Clinical Features and Genetics

Clinical Features

Jaundice and pruritus are the hallmark features of progressive familial intrahepatic cholestasis (PFIC). PFIC is a group of autosomal recessive liver disorders due to defects in bile secretion. Disease onset is usually in infancy or childhood (Srivastava 2014; Davit-Spraul et al. 2009). Four types of PFIC have been established in terms of causative genes involved in the hepatocellular transport system. FIC1 (familial intrahepatic cholestasis protein 1) deficiency (PFIC1) is caused by pathogenic variants in ATP8B1. BSEP (bile salt export pump) deficiency (PFIC2) is caused by pathogenic variants in ABCB11. PFIC3 is caused by reduced biliary phospholipid secretion due to pathogenic variants in ABCB4. The most recently identified PFIC4 is caused by abnormal tight junctions between adjacent hepatocytes and biliary canaliculi in liver tissue due to TJP2 defects (Sambrotta et al. 2014). PFIC patients usually develop fibrosis and end-stage liver disease before adulthood. Serum gamma-glutamyl transferase (GGT) activity is normal in PFIC1 and PFIC2 patients, elevated in PFIC3 patients and low in PFIC4 patients. Defects in PFIC-associated genes ATP8B1 and ABCB11 can also cause a milder type of liver disease called benign recurrent intrahepatic cholestasis (BRIC) (Klomp et al. 2004; Beauséjour et al. 2011). BRIC is an autosomal recessive disorder characterized by intermittent episodes of cholestasis without progression to liver failure.


Progressive familial intrahepatic cholestasis (PFIC) is inherited in an autosomal recessive manner. Defects in four genes to date encoding proteins associated with hepatocellular transport have been found to cause PFIC: ATP8B1, ABCB11, ABCB4 and TJP2 (Srivastava et al. 2014; Davit-Spraul et al. 2009; Sambrotta et al. 2014). The ABCB11 (27 coding exons) gene encodes the bile salt export pump protein (BSEP), which is a member of the superfamily of ATP-binding cassette (ABC) transporters. Pathogenic defects in ABCB11 include missense, nonsense, splicing site pathogenic variants, small indels and exon-level large deletions (Human Gene Mutation Database). In addition to PFIC2, recessive ABCB11 pathogenic variants can also cause benign recurrent intrahepatic cholestasis-2 (BRIC2).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a study of 51 subjects with cholestasis of undefined etiology, Matte et al. found causative variants in JAG1, ATP8B1, ABCB11, or ABCB4 genes in 14 patients (27%) (Matte et al. 2010). ATP8B1 and ABCB11 causative variants were found in 12 (21%) and 36 (63%) respectively of 57 families affected by PFIC with normal GGT activity (Davit-Spraul et al. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the ABCB11 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with progressive familial intrahepatic cholestasis (PFIC) or benign recurrent intrahepatic cholestasis (BRIC). Testing is also indicated for family members of patients who have known ABCB11 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ABCB11.


Official Gene Symbol OMIM ID
ABCB11 603201
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel


  • Beauséjour et al. 2011. PubMed ID: 21766090
  • Davit-Spraul et al. 2009. PubMed ID: 19133130
  • Davit-Spraul et al. 2010. PubMed ID: 20232290
  • Human Gene Mutation Database (Bio-base).
  • Klomp et al. 2004. PubMed ID: 15239083
  • Matte et al. 2010. PubMed ID: 20683201
  • Sambrotta et al. 2014. PubMed ID: 24614073
  • Srivastava. 2014. PubMed ID: 25755532


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

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2) Select Additional Test Options

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