Comprehensive genetic testing and evaluation for patients with IDDs addresses a significant gap in healthcare, providing diagnostic clarity and therapeutic guidance for patients experiencing IDD indications or who have not been tested due to evolving technology or limited access.

As a clinical genetics practice focused on diagnosis and management, SequenceMD sees many adult and pediatric patients with IDDs that affect their cognitive function and physical or neurological development. Studies show that up to 40% of IDDs have identifiable genetic causes.

• Delayed speech and language development
• Difficulty with problem-solving and abstract thinking
• Trouble with motor skills and coordination
• Social and behavioral difficulties
• Learning disabilities and academic struggles
• Delayed or abnormal emotional development

IDDs can include neurodevelopmental and neurological disorders and multisystem syndromes, such as:

• Chromosomal disorders such as 22q11 deletion syndrome (i.e. DiGeorge syndrome)
• Ciliopathies such as Bardet Biedel and Alström syndromes
• Abnormal methylation disorders such as Prader Willi and Angelman syndromes
• MECP2 disorders such as Rett syndrome
• Trinucleotide repeat disorders such as Fragile X syndrome
• Hereditary spastic paraplegia
• Other monogenetic causes of neurodevelopmental delay

• Immediate Management: Tailor therapeutic approaches to a patient’s genetic diagnosis and profile to maximize efficacy and minimize adverse effects
• Preventive Care: Enable early interventions with targeted monitoring and proactive risk and symptom management
• Family Planning: Assess the chance of a condition occurring in children or other relatives
• Support: Link families to support groups, clinical studies, specialists, and other resources, potentially including disability income and services

SequenceMD provides genetic evaluations and health management services for challenging clinical cases, suspected genetic disorders, and patients with established genetic diagnoses. After a diagnosis, we collaborate with primary care and specialty providers to:

• Review a 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 breakthroughs

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.