Which specimen type is recommended for cytogenetic analysis in cases of Turner syndrome?

The recommended specimen type for cytogenetic analysis in cases of Turner syndrome is heparinized peripheral blood at room temperature. This specimen is ideal because it allows for the optimal growth of lymphocytes, which are cultured for chromosomal analysis. Peripheral blood is commonly used in cytogenetics for diagnosing various conditions, including genetic disorders like Turner syndrome.

When heparinized blood is collected, it is important to keep it at room temperature to maintain lymphocyte viability and to allow for successful culture initiation. This is essential because the cells need to proliferate in culture to be analyzed for chromosomal abnormalities, which are characteristic of Turner syndrome, such as the presence of a missing X chromosome (45,X).

Other specimen types may not be as suitable for this analysis. For example, frozen heparinized blood samples could be problematic because freezing can negatively impact the viability of the lymphocytes. Bone marrow aspirate, while it can be used for cytogenetic tests, is less common for Turner syndrome unless there are specific clinical indications to investigate hematological issues. Buffy coat derived samples are also utilized but may not have the same level of cellular yield and proliferation potential as whole blood, thus making them a less preferred choice for such analyses. Overall, using he