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Chapter: Medicine Study Notes : Genetics and Cancer

Genetic Testing

Screening tests: done on normal population to identify those at risk (not diagnostic)

Genetic Testing

 

·        Types of test:

o  Screening tests: done on normal population to identify those at risk (not diagnostic)

o  Diagnostic tests to confirm the presence of disease

·        Guthrie Card – for screening all neonates:

o  Second test needed in about 1 in 100 babies (usually due to poor sample)

 


 

·        Indications for neonatal genetic testing: Physical, growth or developmental disorders:

o   Still birth

o   Multiple congenital abnormalities

o   Small for age

o   Facial dysmorphia

o   Significant mental retardation

o   Post-natal growth retardation

o   Microcephaly

 

Other

 

·        Agenesis: complete absence of an organ

·        Aplasia: absence of an organ with the persistence of an undeveloped rudiment

·        Anencephaly: congenital absence of cranial vault – with cerebral hemispheres completely missing

 

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Medicine Study Notes : Genetics and Cancer : Genetic Testing |


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