Indications For Growth and Development Genetics

Genes strongly influence metabolism in newborns, development of neonate, early childhood milestones, cognitive development in children, and pubertal changes in young adults. Variants or mutations on genes effect different organ systems and may result in syndromic genetic conditions with variable range of severity.

Blood Defects

Beta Thalassemia,  Sickle Cell Anemia, Hemophilia

Cardiac Defects

Congenital Heart Disease, Cardiomyopathy, Arrhythmias, Long QT Syndrome

Congenital Defects & Dysmorphology

 Craniofacial, Skeletal, Cardiac, Genital

Dermatological Defects

Alopecia, Albinism, Ectodermal Dysplasia, Congenital Icthyosis

Global Developmental Delay

 Delayed Milestones, Speech Motor Developmental Problems

Growth Retardation

Short stature, Achondroplasia, Russel Silver Syndrome

Hearing Loss

Syndromic or Non-syndromic Hearing Loss, Family History

Mental Retardation

Mild to Severe Forms, Autistic Spectrum, Syndromic Forms

 Metabolic Disorders

Hypothyroidism, CAH, Galactosemia, Phenylketonuria, Maple Syrup Urine Disease

Neuro Degenerative Disorders

Neurofibromatosis, Dementia, Epilepsy, Ataxia, Parkinson’s

 Neuro Muscular Defects

Spinal Muscular Atrophy, Duchene Muscular Dystrophy, Congenital Myopathy

 Skeletal Defects

Achondroplasia, Craniosynostosis, Campomelic Dysplasia, Osteogenesis Imperfecta