Cholangiocarcinoma test panel

Cholangiocarcinoma

  • Somatic Mutation: Solid Tissue Molecular Profiling in Cholangiocarcinoma

  • Somatic Mutation Brochure arrow icon   Somatic Mutation Request Form arrow icon

    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 the National Director of Molecular Genetics at Australian Clinical Labs. She has a Fellowship with honours in Chemical and Molecular Pathology, with Microbiology sub-speciality, from overseas. A/P Saad received her NHMRC sponsored PhD degree in Cancer Genetics from Melbourne University and Peter MacCallum Cancer Institute. Along with her teaching and research roles, A/P Saad is a registered medical practitioner with AHPRA, a Chemical Pathology Fellow (FRCPA) at the Royal College of Pathologists of Australasia and a Member of the Australasian Association of Clinical Biochemists (MAACB). She is a Chair of the RCPA Chemical Pathology Advisory Committee, Member of the RCPA Genetic Advisory Committee, AACB and a Chair of the Precision Medicine Services at Australian Clinical Labs. At Clinical Labs, A/Prof Mirette Saad leads the Molecular Genetic testing for NIPT, antenatal screening, personalised drug therapy and cancer.