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.
