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.


nagarasan Monday, December 28, 2009

I am Nagarasan in India. I am affected with congental myotonia from childhood. What genetic counseling is there for curing this in gene theraphy.

@Guest Thursday, March 5, 2015

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.


Dr. Risha Nahar
Genetic Consultant

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