Patients Served
Adult and Pediatric Patients with Concern for the Following Syndromes:
- Hereditary cancer syndromes
- Connective tissue disorders - such as Ehlers-Danlos Syndromes or Marfan Syndrome
- Neurodevelopmental disorders - including Autism
- Hereditary amyloidosis conditions
- Movement disorders - such as Parkinson's or Huntington's disease
- Cardiomyopathy and cardiac arrhythmia syndromes
- Family history of sudden cardiac arrest
- Autoimmune and autoinflammatory syndromes
- Hereditary inflammatory bowel conditions
- Hereditary dermatologic conditions
- Endocrine disorders
- Inherited nephrology syndromes
- Congenital anomalies
- Fragile X syndrome
- Skeletal dysplasia
- Epileptic conditions
- Immunodeficiency syndromes
- Hereditary Deafness Syndromes
- Hereditary hematologic conditions
- Metabolic disorders
- Ophthalmologic conditions
- Chromosomal abnormalities
- Whole exome testing for rare or unexplained disease
- Blood testing for Active Cancer Screening
- Pharmacogenomic testing to guide medication choices - including psychiatric medications
- Carrier screening for family planning
- Family Variant testing for those with a known familial mutation
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