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Cytogenetics Test

  • Amniotic Fluid Chromosomal Analysis CODE GT001

    This test determines the chromosomal status of the fetus. Numerical and structural chromosomal abnormalities can be diagnosed. Sex and the presence of more than one cell line (mosaicism) can also be determined. Indications include diagnosis of chromosome abnormalities in fetuses of women who are of advanced maternal age; had a previous child with a chromosome abnormality; parental carrier of a balanced translocation, inversion or marker chromosome and parental mosaicism.      
  • Chorionic Villi Chromosomal Analysis CODE GT002

    Numerical and structural chromosomal abnormalities can be diagnosed. Sex and presence of more than one cell line (mosaicism) can also be determined. Indications include diagnosis of chromosome abnormalities in fetuses of women who are of advanced maternal age; had a previous child with a chromosome abnormality; parental carrier of a balanced translocation, inversion or marker chromosome and parental mosaicism.  
  • Fetal or Cord Blood Chromosomal Analysis CODE GT003

    Numerical and structural chromosomal abnormalities can be diagnosed. Sex and presence of more than one cell line (mosaicism) can also be determined. Indications include diagnosis of chromosome abnormalities in fetuses with dysmorphic features; multiple congenital anomalies; parental carrier of a balanced translocation, inversion or marker chromosome and parental mosaicism.  
  • Product of Conception /Stillbirths/Abortuses Chromosomal Analysis CODE GT004

    For the diagnosis of chromosome abnormalities present in the fetus during the first trimester of pregnancy. Chromosome aberrations observed in the CVS specimen but not in the fetus (confined placental mosaicism) occurs in approximately 1% of cases.  
  • Peripheral Blood Chromosomal Analysis CODE GT005

    Chromosomal analysis of peripheral blood is used to detect chromosomal abnormalities when a blood is suspected of having a chromosomal abnormality, when an infant has congenital abnormalities, when a woman experiences miscarriages or infertility, and when an adult shows signs of a genetic disorder. It may also be ordered to detect the presence of a chromosomal abnormality in family members when it has been detected in a child or in another family member.  
  • Peripheral Blood, Constitutional mosaicism Chromosomal Analysis CODE GT006

    Extended Chromosomal analysis by karyotyping for low degree chromosomal mosaicism. Some low degree cases may require FISH analysis if a specific abnormality is to be excluded.  
  • Peripheral Blood-Breakage Study (Ataxia Telangiectasia) Chromosomal Analysis CODE GT007

    This analysis evaluates the amount of chromosome breakage in blood cells and will not identify any specific mutation in the DNA. This test will reliably detect affected individuals but is not an appropriate test for unaffected carriers of the disorder.  
  • Peripheral Blood-Breakage Study (Fanconi Anaemia) Chromosomal Analysis CODE GT008

    This analysis evaluates the amount of chromosome breakage in cells and will not identify any specific mutation in the DNA. It will reliably detect affected individuals but is not an appropriate test for unaffected carriers of the disorder. This test does not rule out numeric or structural chromosomal abnormalities. Some individuals with characteristics suggestive of Fanconi Anaemia (FA) may have normal results in the Diepoxybutane induced DEB chromosome breakage test, therefore, a negative DEB study does not rule out FA in all cases.  
  • Peripheral Blood- Unstimulated, Hematological Disorder, Chromosomal Analysis CODE GT009

    Cytogenetic analysis of peripheral blood (if 10% or more blasts present) can identify numerical and structural chromosomal aberrations that are diagnostic and/or prognostic for some types of leukemia and lymphoma. Chromosome analysis is often employed for staging, monitoring treatment and predicting relapse. Leukemias and lymphomas can be distinguished by specific chromosome abnormalities that can aid in precise diagnosis, disease etiology, patient prognosis and disease management.  
  • Bone Marrow, Hematological Disorders, Chromosomal Analysis CODE GT010

    Cytogenetics analysis of hematologic disorders attempts to define and interpret chromosomal aberrations that occur in neoplastic cells associated with leukemia, lymphoma and other hematologic malignancies. Chromosome abnormalities in cancer cells of patients with malignant hematologic disorders including acute and chronic myeloid and lymphoid leukemias, myelodysplastic and myeloproliferative disorders, lymphomas and unexplained anemias may correlate with the diagnosis, prognosis, treatment and etiology of disease.  
  • Solid Tumor Chromosomal Analysis CODE GT011

    Many solid tumors, especially soft tissue sarcomas, have precise structural chromosomal abnormalities that are important for precise diagnosis. Cancer cytogenetic studies can identify numerical and structural chromosomal abnormalities that are diagnostic and/or prognostic for various types of solid tumors.  

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