Stead Family Department of Pediatrics- Medical Genetics

  • Shivanand R. Patil Cytogenetics and Molecular Laboratory

    Test Menu and Turnaround Times

    Chromosome Analysis

    Test and Specimen Type Turnaround Times
    Amniotic Fluid 10-12 days
    Bone Marrow (for acquired and constitutional abnormalities) 14 days
    Cell Culture (Biochemical and Molecular Studies)  
    Chorionic Villi 10-12 days
    Fetal Blood (Prenatal Diagnosis) 7 days
    Peripheral Blood (Breakage Studies, Fanconi, AT) 14-21 days
    Peripheral Blood, Cord Blood (Constitutional Abnormalities) 7-14 days
    Peripheral Blood for Hematological Disorders 14 days
    Product of Conception (POC) 21-30 days
    Skin, Other Tissue (Constitutional Abnormalities) 21-30 days
    Skin or Internal Tissue or Blood from Autopsy (Constitutional Abnormalities) 21-30 days (tissues)
    14-21 days (blood)

    FISH (Fluorescence In-Situ Hybridization)

    Test and Specimen Type Turnaround Times
    Amniocytes, Chorionic Villi (Prenatal-Aneuploidy/Microdeletion) 2-10 days
    Bone Marrow 3-5 days
    Peripheral Blood (Hematological) 3-5 days
    Peripheral Blood (Newborn or Cord or Others) (Aneuploidy Screening) 2-5 days
    Peripheral Blood, Bone Marrow, Fibroblasts, Other Tissue (Microdeletion and Subtelomeric Constitutional Studies) 5-7 days
    Tumor Tissue (Fresh Tissue) 7-14 days
    Tumor Tissue (Paraffin Embedded Tissue Slices) 3-10 days
    Voided Urine, Bladder Wash (Bladder Carcinoma) 4-8 days

     Chromosome Micro Array (CMA)

    Test and Specimen Type Turnaround Times
    Peripheral Blood (Purple-Top) for Constitutional Abnormalities 4 weeks

    FISH Probes Available

    Panel Probe
    Microdeletions CRIDUCHAT 
    Microdeletions D15S10
    Microdeletions LANGERGIED
    Microdeletions LSI1P/1Q
    Microdeletions MILLERDIEK
    Microdeletions SMITHMAGEN
    Microdeletions SNRPN
    Microdeletions TUPLE1
    Microdeletions WOFLHIRSCH
    CLL ATM
    CLL CEP12
    CLL D13S319/LAMP1
    CLL IGH/CCND1
    CLL MYB/CEP6
    CLL P53
    AML CBFB BAP
    AML CEP8
    AML D7S522/CEP7
    AML EGR1
    AML ETO/AML1
    AML MLL BAP
    AML PML/RARA
    ALL BCR/ABL
    ALL CEP4
    ALL CEP10
    ALL CEP17
    ALL ETV6/RUNX1
    ALL MLL BAP
    ALL P16/CEP9
    Myeloma CD138+ CEP9
    Myeloma CD138+ CEP10
    Myeloma CD138+ CEP11
    Myeloma CD138+ CEP15
    Myeloma CD138+ CSK1B
    Myeloma CD138+ D13S319
    Myeloma CD138+ EGR1
    Myeloma CD138+ IGH BAP
    Myeloma CD138+ P53
    Myeloma CD138+ Reflex Test IGH/CCND1 XT
    Myeloma CD138+ Reflex Test IGH/CCND3
    Myeloma CD138+ Reflex Test IGH/FGFR3
    Myeloma CD138+ Reflex Test IGH/MAF
    Myeloma CD138+ Reflex Test IGH/MAFB
    MDS CEP8
    MDS D7S522/CEP7
    MDS D13S319
    MDS D20S108
    MDS EGR1
    MDS EVI BAP
    MDS MLL BAP
    Lymphoma BCL6 BAP
    Lymphoma IGH/BCL2
    Lymphoma IGH/CCND1
    Lymphoma IGH/MYC
    Imantinib Responsive Conditions BCR/ABL
    Imantinib Responsive Conditions FIP1L1/CHIC2/PDGFRA BAP
    Imantinib Responsive Conditions PDGFRB BAP
    Glioma LSI1P/1Q
    Glioma LSI19P/19Q
    Aneuploidy Screen (AneuVysion) AV 13
    Aneuploidy Screen (AneuVysion) AV 18
    Aneuploidy Screen (AneuVysion) AV 21
    Aneuploidy Screen (AneuVysion) AV X
    Aneuploidy Screen (AneuVysion) AV Y
    Lipomatous Neoplasms MDM2
    Lipomatous Neoplasms DDIT3
    Bladder Cancer (UroVysion) UROVYSION