GENETIC EVALUATION
& DIAGNOSIS

How is your DNA impacting your health?

We combine leading-edge technology with clinical expertise in metabolic and biochemical genetics to find answers.

GENETIC EVALUATION
& DIAGNOSIS

How is your DNA impacting your health?

We combine leading-edge technology with clinical expertise in metabolic and biochemical genetics to find answers.

Get to the root of what’s going on with your health.

A genetic diagnosis can provide insights into your medical history, prepare you for what’s ahead, and inform a customized, precision care plan to maintain or improve your health. Our clinical evaluation and diagnostic services include:

  • Comprehensive medical, family, and social history
  • Complete physical exam and neurocognitive screen
  • Review of specialty consults, previous tests, and historic diagnoses
  • Genetic counseling, testing, and diagnosis

Genetic counseling

Genetic counselors are professionals trained in the medical and psychosocial aspects of genetics. At SequenceMD, our genetic counseling services include:

  • Risk assessment for inherited and rare genetic disorders
  • Patient education on how genetics can impact your health and family life
  • Discussion of the risks, benefits, alternatives, and limitations of genome sequencing for your unique situation
  • Clinical results review, explanation, and discussion of next steps
  • Resource recommendation and support for individuals with a genetic diagnosis
  • Extensive communication and follow-up throughout diagnostic and care processes
Learn more about genetic counseling >

Types of genetic testing

SequenceMD evaluates and recommends appropriate genetic testing for you. We order, coordinate, and clinically correlate the results for all genetic tests. We also perform insurance benefits investigations for patients.

Whole genome sequencing or whole exome sequencing, correlated to symptoms, history, medications, and tests, are usually our preferred genetic tests for patients with unexplained or unresolved symptoms. These tests sequence all of your DNA and offer superior sensitivity for detecting the vast diversity of changes associated with the thousands of unique genetic conditions and disorders.

If you have a family history of cancer, genetic testing can determine if you are at an increased risk for the disease. Using your test results, we can work with your care team to develop a screening and prevention plan based on your individual risk factors. We can also provide guidance on targeted therapies and clinical trials for hereditary cancer syndromes.

Preconception carrier screening can reveal whether you carry genetic variants that increase the risk of having a child with a hereditary condition. Genetic testing can help you make informed decisions about family planning, prenatal testing, or assisted reproductive technologies.

If a specific disease runs in your family, our team can evaluate your family history and conduct genetic testing. Testing may pinpoint the underlying genetic cause and allow us to craft personalized recommendations for disease management and screening.

Key clinical indicators of a genetic disease

SequenceMD sees patients of all ages referred to us for genetic evaluation from numerous specialities and care providers. Patients come to us experiencing a wide variety of symptoms and conditions, including those listed below.

Neurology

  • Neuromuscular disorders
  • Neuropathy
  • Neurodegenerative disorders
  • Epilepsy

Psychiatry

  • Intellectual disability
  • Cognitive decline
  • Neuropsychiatric disorder
  • Schizophrenia

Ophthalmology

  • Optic atrophy
  • Retinal dystrophies
  • Lens dislocation and cataracts
  • Corneal opacification

Physical Medicine & Rehabilitation (PM&R)

  • Movement disorders
  • Dystonia
  • Cerebral palsy

Cardiology

  • Cardiomyopathies
  • Conduction disorders
  • Connective tissue disease

Endocrinology

  • Polyendocrinopathy
  • Hypogonadism
  • Hypophosphatemia

Rheumatology

  • Early-onset arthritis
  • Connective tissue disorders
  • Myopathies

Nephrology

  • Tubulointerstitial disease
  • Glomerular disorders
  • Nephrolithiasis

Otolaryngology

  • Hearing loss
  • Craniofacial anomalies
  • Dental anomalies

In particular, our team specializes in evaluating patients with:

  • Neurodevelopmental disorders, which impact the growth and function of the brain and nervous system
  • Movement disorders that impair body coordination and control including Ehlers-Danlos Syndrome, cerebral palsy, and others
  • Metabolic disorders, which disrupt chemical processes in the body
  • Chromosome 15 disorders, including Prader-Willi, Angelman, and dup15q syndromes, among others
  • Conditions with intellectual disability and/or developmental delays, including Pitt-Hopkins

Learn more about the red flags of a genetic disease here, or contact us for an extended list of the conditions we evaluate and manage.