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