Genetic Counseling - Steps in 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.