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Genetic Counseling

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Genetic Counseling - Steps In A Counseling Process

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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
Gene therapy is still not an approved therapy in human beings.

However, limited symptomatic treatment may be available.

Also, if you have the genetic confirmation of the disorder, you can potentially prevent the future generation from inheriting the same condition.

Regards,

Dr. Risha Nahar
Genetic Consultant

Guest Thursday, March 5, 2015

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