Molecular studies

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Dr. Osama K Zaki                    

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Molecular Genetic Studies

[Product Image]  
Three dimensional structure of DNA

    Advances in the field of molecular biology  are having a major impact on the diagnostic techniques in clinical practice.  Since the  start of the Human Genome project, there has been a marked increase in the  number of diseases that are diagnosable at the DNA or RNA levels. This is especially important to detect carriers who don't show any markers of the affected allele.  

    A major advantage of molecular study is that it may be done using tissues that do not express the mutation e.g. amniocytes may be used for the prenatal diagnosis of  sickle cell anemia.  In addition most studies do not require cell culture and may be done on non-dividing cells. 

 

Indications:

A: Diagnosis of inherited genetic disorders, pre-symptomatic testing and detection of carriers    

  Examples:

bulletThalassemia and other Hemoglobinopathies  
bulletCystic fibrosis 
bulletDuchenne muscle Dystrophy 
bulletFragile X syndrome (for cytogenetic test  click here)
bulletPrader Willi  syndrome (for cytogenetic test  click here)
bulletMultiple endocrine neoplasia
bulletMyotonic dystrophy

B:  Diagnosis and follow up of Neoplasia 

  Examples:

bulletDiagnosis and follow up of the Philadelphia translocation(9;22) in CML.
bulletDetection of N-myc amplification in Neuroblastoma 

Report time :

    Depends on the requested test. Usually 4 -15 days. 

 

 

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