Advances in technology, growing awareness, and accumulating evidence are accelerating applications of genetic testing throughout clinical medicine. SequenceMD works with all specialties to provide medical consultations for challenging clinical cases, suspected genetic disorders, and patients with established genetic diagnoses. Connective tissue disorders account for a significant portion of the conditions we see.
Genetic Connective Tissue Disorders
Over 200 genetic connective tissue disorders are known, with the most common conditions including
- Ehlers-Danlos Syndrome (EDS)
- Marfan Syndrome
- Loeys-Dietz Syndrome
- Stickler Syndrome
- Osteogenesis Imperfecta
- Cutis Laxa
Genetic Evaluation Benefits
- Diagnostic Precision: Identify the underlying cause of connective tissue disorders
- Personalized Treatment: Tailor therapeutic approaches to a patient’s genetic profile and diagnosis to maximize efficacy, minimize adverse effects, and improve outcomes
- Predictive and Preventive: Detect conditions early, enabling proactive monitoring and intervention to mitigate risks and empower patients and families through education
- Support: Link patients and families to support groups, clinical studies, specialists, and other resources, potentially including disability income and services
Clinical Indications
- Joint pain and hypermobility
- Skin abnormalities
- Muscle weakness
- Cardiovascular abnormalities
- Eye abnormalities
- Gastrointestinal issues
- Skeletal abnormalities
- Unexplained fatigue
Working Together for Integrated Care
SequenceMD collaborates with primary care and specialty providers to:
- Review the disorder’s natural history, clinical presentation, and medical management
- Discuss targeted treatment options, including gene therapies and clinical trials
- Recommend specialty consultations and monitoring needs
- Deliver continuing patient care with annual follow-ups
- Reanalyze genetic data and results in light of new discoveries and breakthroughs
Fax referrals to 833-991-3554 or visit sequencemd.com/providers for our referring providers form.
About SequenceMD
SequenceMD is a private medical practice with clinical geneticists in Denver, CO and Oklahoma City, OK who specialize in the diagnosis and management of rare or inherited genetic conditions across the lifespan, from birth through adulthood. Since opening our first clinic in 2022, we have seen over 3,000 patients from more than 800 referring providers, 7 health systems, 20 medical specialties, and 8 states.
Offering telemedicine and in-person services, SequenceMD provides pediatric and adult patients, primary care providers, and other medical specialists access to a patient-centered medical evaluation that includes genetic counseling, testing, and interpretation.