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Genetic Counseling

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Genetic Counseling - Steps In A Counseling Process

Clinical examination of patient , medical records, X- Ray / ultrasound scan reports, biochemical tests.

Performa collection (Pedigree / medical history)

Tests 

Cytogenetic Diagnosis 

Karyotyping / Banding Techniques

Flourescent in situ hybridization ( FISH )

Molecular Diagnosis 

Molecular Diagnosis 

Polymerase chain Reaction ( PCR ) for single gene disorder

Southern blotting

Restriction digestion For mutation of analysis by Restriction Fragment length polymorphism ( RFLP ).

A gentic counselor will look at the above and establish the following. 

Accurate diagnosis and reports of genetic status. 

Careful examination of pedigree & reports of tests and available data for arising inheritance pattern for risk estimation.

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I am Nagarasan in India. I am affected with congental myotonia from childhood. What genetic counseling is there for curing this in gene theraphy.
nagarasan Monday, December 28, 2009

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