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Introduction: Glioblastoma is the most common primary tumour of the CNS, and accounts for 12–15% of all intracranial tumours and 50–60% of gliomas. Emergence of this Test: Typically, patients diagnosed with glioblastoma die within a few months if untreated. MGMT ( O6-methylguanine-DNA methyltransferase) enzyme is a DNA repair enzyme that removes harmful alkyl groups from DNA. This is a non-IHC test, usually done using methylation-specific PCR (MSP), or more accurately (and uncommonly) by pyrosequencing. The European Organization for Research and Treatment of Cancer (EORTC) 26981-22981–National Cancer Institute of Canada (NCIC) randomized trial demonstrated that the survival benefit derived from combined radiotherapy and temozolomide chemotherapy is higher in patients whose tumours show methylation of MGMT than in those whose tumours have an unmethylated MGMT promoter. Indications of MGMT ( O6-methylguanine-DNA methyltransferase)Test: 1. High grade glioma (anaplastic as

15% CML cells is always 15%. You need to know the number of cells tested and the number of CML cells found in order to calculate the %. A FISH test usually looks at 200 cells. If 30 of these cells are CML cells then you have 15% leukemic cells in your body. A BMA usually looks at 25 cells. If 4 of these were CML cells then you would have 16% CML cells in your body. Now for the PCR calculation. Big problem. They never tell you how many cells they look at nor do they tell you how many of these cells are CML cells. So you cannot do the calculation. The reason they do the PCR test is because it is a very sensitive test and once you have attained 0 by FISH test you need some other test to see how well you are doing. There are 2 types of PCR tests (qualitative and quantitative) that are done. The qualitative PCR test simply reports YES or NO. A % is not reported. This is a handy test if they tell you how many cells they looked at. Some labs look at 10,000 cells and othe

What is Definition of  DMD/BMD: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21 What we detect in this test: The assay detects deletions in 18 exons of the dystrophin gene using two sets of primers (Begg’s and Chamberlain’s set) flanking exons pm- 3-­4-­6-­8-­12-­13-­16-­17-­19-­43-­44-­45-­46-­47-­50-­51-­52-­60 that include the major hot spot of the dystrophin gene and comprises of 60­65% of  all DMD cases. This test does not detect large duplications, small deletions or insertions, point mutations, or splicing mutations. A negative test result  therefore does not rule out a diagnosis of Duchenne or Becker muscular dystrophy. Symptoms of DMD/BMD: Affected males have difficulty walking, an abnormal gait and severe limb weakness. Most are wheelchair­bound by age 7 or 8 and die by  their early twenties due to respiratory or cardiac complications. Clinical Fea

Introduction: Non-invasive prenatal testing (NIPT) is a revolutionary advancement in prenatal screening which can detect circulating genetic material (DNA) from the foetus in peripheral blood of mother via simple routine blood test. Process of NIPT Testing: The NIPT test screens a maternal blood sample for chromosome aneuploidy in fetal DNA using the following methodology: (1) Extraction of cell free fetal DNA from the maternal blood sample (2) High throughput sequencing of the extracted cell free fetal DNA (3) Calculation of molecular mass of fetal DNA in all chromosomes Why We Use NIPT? NIPT is a non-invasive, low-risk, highly sensitive and specific method for prenatal examination This test is used to detect following syndrome: ·        Trisomy 13 (Patau Syndrome) ·        Trisomy 18 (Edwards Syndrome) ·        Trisomy 21 (Down Syndrome) Sensitivity and Specificity of NIPT: Sensitivity and Specificity of NIPT is over 99% To validate the sensitivi