The Ipsen-Sponsored Cholestasis Genetic Testing Program

Sponsored, no-cost genetic testing
US

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What is the Cholestasis Genetic Testing Program?

The Cholestasis Genetic Testing Program, sponsored by Ipsen, provides access to free, comprehensive cholestatic genetic testing for eligible individuals* suspected of having progressive familial intrahepatic cholestasis (PFIC) or Alagille syndrome (ALGS).

Genetic Cholestatic Liver Disorders

  • A growing number of cholestatic liver diseases have been found to have a genetic component, with genetic cholestatic liver diseases presenting during both childhood and adulthood.4,5
  • Both PFIC and ALGS are rare genetic cholestatic liver diseases with cholestasis, one of the most common manifestations of ALGS and PFIC.1,6

    PFIC
  • PFIC is a spectrum of rare genetic disorders involving the liver,2 occurring in an estimated 1 out of every 50,000-100,000 births worldwide3
  • It commonly presents in the first months of life; however, variants in PFIC genes ABCB4, ABCB11, and ATP8B1 can contribute to later-onset forms of the disease4,5
  • Untreated, PFIC can lead to liver damage and the need for liver transplantation3,4

    ALGS
  • ALGS is one of the most common causes of inherited cholestasis in children,6 occurring in an estimated 1 out of every 30,000-45,000 births7
  • The clinical manifestation of ALGS can range from a silent disease phenotype with no symptoms to severe, life-threatening cardiovascular involvement and/or advanced liver disease8,9
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Program eligibility

*Eligible individuals must reside in the United States and meet the inclusion criteria below

  • Select the single most appropriate criteria for this patient:

    • Patient is currently cholestatic or has a history of cholestasis without an identified cause or diagnosis of an extrahepatic disorder (e.g., biliary atresia)
    • Patient presents with an unexplained chornic liver disease (i.e., jaundice or changes in liver function tests)
    • Genetic contribution is being considered due to first degree relative with cholestasis and confirmed variant/s in the following diseases/genes:
      • Alagille syndrome: JAG1, NOTCH2
      • PFIC: ABCB11, ABCB4, ATP8B1, KIF12, LSR, MYO5B, NR1H4, PSKH1, SLC51A, TJP2, SEMA7A, USP53, VPS33B, WDR83OS, ZFYVE19
    Print a Test Requisition Form

Testing options

This program offers testing with a choice of three Ipsen-Sponsored Cholestasis Panels
Note: Re-requisitions are not available through this sponsored testing program

  • icon-dna-strands-mintPolo

    Ipsen Pediatric Cholestasis Panel (110 genes)

    ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX2, ADK, AKR1D1, ALDOB, ALG1, ALG8, AMACR, ANKS6, AP1S1, ASS1, ATP6AP1, ATP7B, ATP8B1, B4GALT1, BAAT, BCS1L, BLVRA, CC2D2A, CCDC115, CFTR, CLDN1, COG6, COG7, CYP27A1, CYP7B1, C19orf70 (MICOS13), DCDC2, DGUOK, DHCR7, FAH, FH, G6PD, GALE, GALT, GFM1, GLIS3, HADHA, HADHB, HFE, HJV, HSD17B4, HSD3B7, IARS (IARS1), INVS, JAG1, KIF12, LIPA, LSR, MKS1, MPV17, MYO5B, NEK8, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKHD1, POLG, POMC, PPM1F, RFX6, SC5D, SCYL1, SERAC1, SERPINA1, SHPK, SLC10A2, SLC25A13, SLC25A20, SLC40A1, SLC51B, SMPD1, TALDO1, TBX19, TFAM, TFR2, TJP2, TMEM216, TRMU, TTC26, TWNK, UGT1A1, USP53, UTP4, VIPAS39, VPS33B, WDR83OS

  • icon-dna-strands-mintPolo

    Ipsen Adult Cholestasis Panel (47 genes)

    ABCB11, ABCB4, ACOX1, AKR1C4, ALAS2, APOA5, ARG1, ATP7B, ATP8B1, CDAN1, CFTR, CLPX, CREB3L3, CTNS, DGUOK, FECH, GLI2, HFE, HJV, HNF1B, ITCH, JAG1, KIF12, KMT2D, MMACHC, MYO5B, NOTCH2, NR1H4, OTC, PKD1L1, SCP2, SERPINA1, SLC22A5, SLC25A15, SLC27A5, SLC30A10, SLC40A1, SMS, STXBP2, TFR2, TJP2, TRAPPC11, TSFM, UGT1A1, USP53, VMA21, VPS33B

  • icon-dna-strands-mintPolo

    Ipsen Combined Cholestasis Panel (137 genes)

    ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX1, ACOX2, ADK, AKR1C4, AKR1D1, ALAS2, ALDOB, ALG1, ALG8, AMACR, ANKS6, AP1S1, APOA5, ARG1, ASS1, ATP6AP1, ATP7B, ATP8B1, B4GALT1, BAAT, BCS1L, BLVRA, C19orf70, CC2D2A, CCDC115, CDAN1, CFTR, CLDN1, CLPX, COG6, COG7, CREB3L3, CTNS, CYP27A1, CYP7B1, DCDC2, DGUOK, DHCR7, FAH, FECH, FH, G6PD, GALE, GALT, GFM1, GLI2, GLIS3, HADHA, HADHB, HFE, HJV, HNF1B, HSD17B4, HSD3B7, IARS, INVS, ITCH, JAG1, KIF12, KMT2D, LIPA, LSR, MKS1, MMACHC, MPV17, MYO5B, NEK8, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, OTC, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD1L1, PKHD1, POLG, POMC, PPM1F, RFX6, SC5D, SCP2, SCYL1, SERAC1, SERPINA1, SHPK, SLC10A2, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC27A5, SLC30A10, SLC40A1, SLC51B, SMPD1, SMS, STXBP2, TALDO1, TBX19, TFAM, TFR2, TJP2, TMEM216, TRAPPC11, TRMU, TSFM, TTC26, TWNK, UGT1A1, USP53, UTP4, VIPAS39, VMA21, VPS33B, WDR83OS

How to order

  • Step 1 duotone icon

    Step 1

    Discuss testing and get consent from the eligible patient. Place your order via our convenient online portal.

  • Step 2 duotone icon

    Step 2

    Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US.

  • Genetic testing expert - Invitae icon

    Step 3

    Receive results online and access resources to guide your discussion with the patient about their results.

See how it works

Kit options

Genome Medical

Genetic counseling services

Individuals in the US tested through the Ipsen Sponsored Cholestasis Genetic Testing Program are eligible for pre- and post-test genetic counseling through Genome Medical, a medical practice specializing in telehealth genetic services. Ordering providers must refer the patient using the appropriate check box on the requisition form.

References

  1. Gunaydin M, Bozkurter Cil AT. Hepat Med. 2018;10:95-104.
  2. Baker A, et al. Clin Res Hepatol Gastroenterol. 2019;43(1):20-36.
  3. Davit-Spraul A, et al. Orphanet J Rare Dis. 2009;4:1.
  4. Dröge C, et al. Explor Dig Dis. 2023;2:34-43.
  5. Nayagam JS, et al. Hepatol Commun. 2022;6(10):2654-2664.
  6. Jeyaraj R, et al. Genes (Basel). 2021;12(11):1-20.
  7. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/alagille-syndrome/. Accessed August 2025.
  8. Menon J, et al. J Multidiscip Healthc. 2022;15:353-364.
  9. Ayoub MD, et al. Clin Liver Dis. 2023;26(3):355-370.

    Disclaimer: This is a sponsored testing program. While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Labcorp Genetics Inc. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified (pseudonymized) patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.