Down syndrome:

Down syndrome (trisomy 21) is a condition in which the fetus has extra copy of chromosome 21. It is the most common chromosomal abnormality, which occurs with a frequency of 1 in 700-800 births. It is most common cause of mental retardation. Although this syndrome is more common in women over 35 years of age, most babies with Down syndrome are born to mothers under 35 years. The mother's blood is checked for a combination of different markers: alpha-fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG) , inhibin A and PAPP-A and risk of Down syndrome in fetus will be calculated using PRISCA (Prenatal RISk CAlculation ) software. Positive screening test is not a final diagnosis; it just means that further more invasive tests are needed in order to determine whether your baby has any of the following conditions.

Flow cytometry:

Flow cytometry is a laser-based technology to analyze the characteristics of cells with fluorescent labeled antibodies.. Immunophenotyping by flow cytometry is an important tool in the diagnosis and staging of patients with blood cancer. We are equipped with advanced 3 laser 10 colour flow cytometer, the first 10 colour instrument in Nepal for this purpose.

BCR-ABL quantification:

BCR -ABL 1 fusion transcript is a marker to test for the presence and amount of transcriptionally active Philadelphia-chromosome positive leukemia. Quantitative measurement of this is required for diagnosis of chronic myeloid leukemia ( CML) as well as prognosis of patient on treatment with TKI.. We offer a real-time RT-PCR (Reverse Transcription Polymerase Chain Reaction) test for monitoring of the p210 BCR-ABL translocation in peripheral blood lymphocytes (PBL) of patients with chronic myelogenous leukemia (CML).

Thrombophilia work up:

If you are developing blood clots in veins before 50 years of age or have such a family history you are strong candidate for thrombophilia workup. We offer panel designed for initial work-ups to measure the most common causes that may increase your risk of thrombosis.