Conditions & Procedures

Conditions
Albinism, Alkaptonuria, Alpha-1-Antitrypsin, Alport Syndrome, Alzheimer's Disease, Amyotrophic Lateral Sclerosis (ALS), Ataxia , Ataxia Telangiectasia, Autism, Bannayan-Riley-Ruvalcaba syndrome, Bardet Biedl Syndrome, Batten Disease, Birt-Hogg-Dube, Brain Cancer, Brugada Syndrome, Camurati-Engelmann Disease, Carcinoid, Cardiomyopathy, Carney Complex, Celiac Disease, Centronuclear Myotubular Myopathy, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), Cerebral Cavernous Malformations (CCMs), Cervical Cancer, Charcot-Marie-Tooth, Chromosomal Disorders, Colon Cancer, Cone Rod Dystrophy (CRD), Congenital Adrenal Hyperplasia (CAH), Congenital Heart Disease, Cystic Fibrosis, Dermatomyositis, Dystonia, Ehlers-Danlos, Fabry Disease, Familial Adenomatous Polyposis (FAP)/MAP, Familial Amyloidosis, Familial Aneurysm, Familial Aortic Aneurysms, Familial Cold Autoinflammatory Syndrome (FCAS), Familial Dysautonomia (FD), Familial Hypocalciuric Hypercalcemia (FHH), Familial Mediterranean Fever (FMF), Fragile X syndrome (FXS), Galactosemia, Gallbladder Cancer, Gastrointestinal Stromal Tumor (GIST), Gaucher Disease, General Genetic Syndromes, Gilbert Syndrome, Gitelman Syndrome, Glomerulopathy, Head and Neck Cancer, Hearing Loss, Hemagophagocytic Syndrome, Hemochromotosis, Hemophilia, Hereditary Dementias, Hereditary Diffuse Gastric Cancer, Hereditary Hemorrahgic Telangiestasia (HHT), Hereditary Leiomyomatosis with Renal Cell Cancer (HLRCC), Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), Huntington's Disease, Huntington's Disease (HD), Hyperparathyroidism, Hypochondroplasia, Hypophosphatemic Rickets, Infertility, Juvenile Polyposis Syndrome, Kennedy's Disease, Kidney Cancer, Long QT, Long QT syndrome (LQTS), Lynch Syndrome, Malignant Hyperthermia (MH), Marfan Syndrome, Melanoma, Mental Retardation (MR), Metabolic Disorders, Mitochondrial Disorders, Multiple Congenital Anomalies (MCA), Multiple Endocrine Neoplasia Type 1 (MEN1), Multiple Endocrine Neoplasia Type 2 (MEN2), Multiple Endocrine Neoplasia Type 2B (MEN2B), Muscular Dystrophies (MD), Myotonic Dystrophy, Neurofibromatosis (NF), Neurological Disease, Noonan Syndrome (NS), Norrie Disease, Ollier Disease, Ornithine Transcarbamylase (OTC), Osteogenesis Imperfecta (OI), Ovarian Cancer, Pancreatic Cancer, Pancreatitis, Paraganglioma, Parkinson's Disease (PD), Pediatric Genetic Disorders, Peutz-Jeghers Syndrome, Pheochromocytoma, Polycystic Kidney Disease (PKD), Prader-Willi Syndrome (PWS), Rectal Cancer, Russell-Silver Syndrome (RSS), Sarcoma, Schizencephaly, Schwannoma, Sebaceous Carcinoma, Small Bowel Cancer, Spinal Muscular Atrophy (SMA), Spinocerebellar Ataxia (SCA), Stargardt's Disease, Stickler Syndrome, Stomach Cancer, Thrombophilia, Thyroid Cancer, Treacher Collins syndrome (TCS), Tuberous Sclerosis (TSC), Uterine Cancer, Von Hippel Lindau, Williams syndrome (WS)

Procedures
Breast Cancer (BRCA) Gene Test, Genomic Screening, Pharmacogenetic Testing