
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.