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