Clinical examination of patient , medical records, X- Ray / ultrasound scan reports, biochemical tests.
Performa collection (Pedigree / medical history)
Karyotyping / Banding Techniques
Flourescent in situ hybridization ( FISH )
Polymerase chain Reaction ( PCR ) for single gene disorder
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.