Cholangiocarcinoma test panel

Cholangiocarcinoma

  • Somatic Mutation: Solid Tissue Molecular Profiling in Cholangiocarcinoma

    1. Cholangiocarcinoma Solid Tissue Gene Panel (DNA)

    Genes sequenced in this panel:

    • IDH1

    Detection in tumour tissue of isocitrate dehydrogenase 1 (IDH1) variant status, in a patient with histologically confirmed cholangiocarcinoma, to determine eligibility for a relevant treatment listed under the Pharmaceutical Benefits Scheme.
    Applicable only once per lifetime.

    2. Cholangiocarcinoma Solid Tissue Gene Panel (DNA & RNA Fusion)

    Genes sequenced in this panel:

    • IDH1 & FGFR2

    A nucleic acid-based multi-gene panel test of tumour tissue from a patient with cholangiocarcinoma requested by, or on behalf of, a specialist or consultant physician, if the test is to:
    (a) detect at least IDH1 variant status; and
    (b) detect the fusion or rearrangement status of at least FGFR2; and
    (c) determine eligibility for a relevant treatment under the Pharmaceutical Benefits Scheme including a service described in item 73319.
    Applicable once per lifetime.

    How to Order Somatic Mutation Cholangiocarcinoma Gene Panels

    When to Order:

    • At diagnosis or on therapy for treatment selection.

    Request Form Instructions:

    • Fill out our Somatic Mutation testing request form and tick the Somatic Mutation test panel required.

    Specimen Details:

    • Fresh formalin-fixed paraffin-embedded (FFPE) of 5-10 μm thickness from the tumour tissue.

    Test Cost:

    • Cholangiocarcinoma DNA Panel (IDH1): Medicare rebate available if criteria is met. See MBS item 73319. If criteria is not met, there is an out-of-pocket fee of $400.

    • Cholangiocarcinoma DNA & RNA Fusion Panel (IDH1 & FGFR2): Medicare rebate available if criteria is met. See MBS item 73329. If criteria is not met, there is an out-of-pocket fee of $800.

    Turnaround Time:

    • 5-7 business days from the sample receipt date.

    Notes:

    • A negative result does not rule out the presence of a mutation that may be present but below the limits of detection for this assay (<5%).

About the Author

Associate Professor Mirette Saad

Associate Professor Mirette Saad

MBBS(Hons) MD(Hons) MAACB FRCPA PhD

Associate Professor Mirette Saad

MBBS(Hons) MD(Hons) MAACB FRCPA PhD
Location: Clayton (VIC)
Speciality: Chemical Pathology
Areas of Interest:
  • antenatal screening
  • cancer genetics
  • clinical research and medical teaching
  • endocrine
  • fertility testing
  • molecular genetics
  • nipt
  • precision medicine
  • pharmacogenetics
About

Associate Professor Mirette Saad is a Consultant Chemical Pathologist and National Director of Molecular Genetics at Australian Clinical Labs. She holds a Fellowship with honours in Chemical and Molecular Pathology, with a subspeciality in Microbiology, obtained overseas. A/Prof Saad received her NHMRC-sponsored PhD in Cancer Genetics from the University of Melbourne and the Peter MacCallum Cancer Institute. Alongside her teaching and research roles, A/Prof Saad is a registered medical practitioner with AHPRA, a Chemical Pathology Fellow of the Royal College of Pathologists of Australasia (FRCPA), and a Member of the Australasian Association of Clinical Biochemistry and Laboratory Medicine (AACB) by examination. She is Chair of the RCPA Chemical Pathology Advisory Committee and Chair of Precision Medicine Services at Australian Clinical Labs. At Clinical Labs, A/Prof Saad leads Molecular Genetics testing for NIPT, antenatal screening, fertility, personalised drug therapy and cancer.