Dr. Objoon provides comprehensive consultation, diagnosis, and management for individuals and families affected by inherited and genetic conditions, including:
Hereditary and Rare Genetic Disorders
- Thalassemia and sickle cell disease
- Hemophilia
- Polycystic kidney disease (PKD) and Alport syndrome
- Turner syndrome, Klinefelter syndrome, XYY syndrome, and Triple X syndrome
- Cystic fibrosis
- Neurofibromatosis type 1 and 2 (NF1/NF2)
- Tuberous sclerosis complex
- Ehlers-Danlos syndrome
- Mitochondrial disorders
- Gaucher disease, Fabry disease, and citrin deficiency
- Skeletal disorders such as achondroplasia and osteogenesis imperfecta
Cancer Genetics
Assessment and genetic testing for hereditary cancer syndromes, including:
- Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2)
- Lynch syndrome
- Familial adenomatous polyposis (FAP)
- Li-Fraumeni syndrome
- von Hippel-Lindau (VHL) syndrome
- Multiple endocrine neoplasia (MEN)
Inherited Cardiovascular Conditions
Evaluation and management of inherited heart and vascular disorders, including:
- Familial hypercholesterolemia (FH)
- Hypertrophic cardiomyopathy (HCM)
- Dilated cardiomyopathy (DCM)
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Long QT syndrome and Brugada syndrome
- Marfan syndrome
- Complex congenital heart disease
Neurodevelopmental Disorders and Birth Defects
Assessment of children and adults with:
- Autism spectrum disorder
- Developmental delay and intellectual disability
- Epilepsy with suspected genetic causes
- Down syndrome, Edwards syndrome, and Patau syndrome
- DiGeorge syndrome, Prader-Willi syndrome, Angelman syndrome, Fragile X syndrome, and Noonan syndrome
- Neural tube defects and craniosynostosis
Neurogenetic and Sensory Disorders
Diagnosis and management of inherited neurological, muscle, vision, and hearing disorders, including:
- Spinal muscular atrophy (SMA)
- Duchenne and Becker muscular dystrophy
- Pompe disease
- Huntington disease and spinocerebellar ataxia (SCA)
- Myotonic dystrophy and Charcot-Marie-Tooth disease
- Retinitis pigmentosa and inherited retinal dystrophies
- Usher syndrome, Waardenburg syndrome, and hereditary hearing loss
Reproductive and Fetal Genetics
Specialized services for couples and families planning pregnancy or expecting a child, including:
- Preimplantation genetic testing (PGT)
- Prenatal genetic diagnosis (PND) through procedures such as amniocentesis
- Interpretation of abnormal non-invasive prenatal testing (NIPT) results
- Genetic evaluation and counseling for fetuses with suspected genetic or chromosomal abnormalities
