Genetics

• Family history of a suspected genetic disorder
• Planning a marriage in consanguinity (i.e. in relation)

• Bad obstetric history/ recurrent pregnancy loss
• Neonatal or infant or fetal deaths/previous children with metabolic disorder, neurological issues, growth and development abnormalities, cardiac anomalies, etc.
• Children and Adults with hearing and visual impairment
• Infertility
• Carrier Screening positive for thalassemia/ other hemoglobinopathies
• Chromosomal rearrangements in blood karyotyping report
• Family history of chromosomal/ genetic disorder
• Consanguineous marriage – to determine if carriers of any potential genetic condition
• Post fetal-autopsy counselling

• Child born with
  • Suspected metabolic disorder
  • Chromosomal abnormality (eg. Down Syndrome)
  • Development delay
  • Dysmorphism
  • Failure to thrive
• Skeletal abnormality eg: Osteogenesis Imperfecta, Achondroplasia
• Intellectual disability
• Neurological and neuromuscular disorders in the family
• Autism spectrum disorders
• Suspected single gene disorder
• Post natal follow up of children with antenatally diagnosed anomalies

• Detailed history and pedigree
• Thorough examination of the index child/ patient by the geneticist
• Reviewing the reports
• Plan testing accordingly

Further counseling session may be required according to case complexities.

• Enzyme replacement therapy for selective Lysosomal storage disorders
• Dietary management for Inborn errors of Metabolism
• Facilitating therapies like Bone marrow transplant and Liver transplant
• Therapy for Spinal Muscular Atrophy