Our Services
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Comprehensive Genetic Testing and Diagnostic Clarity for Rare and Complex Conditions
When Answers Matter
If you or your child has unexplained medical symptoms, developmental delay, muscle weakness, neuropsychiatric symptoms, behavioral concerns, developmental regression, metabolic disease, hypermobility, or a suspected genetic condition, a comprehensive genetic evaluation can provide clarity.
As a board-certified neurogeneticist, Dr. Jessica Duis specializes in identifying and managing rare neurogenetic disorders, inborn errors of metabolism, neuromuscular disease, neurodegeneration, connective tissue conditions, and complex multisystem illnesses that are often missed or misunderstood.
What Is a Genetic Evaluation?
A genetic evaluation is a detailed, structured medical assessment that may include:
Extensive personal and family medical history
Physical examination for syndromic features
Review of prior lab work and imaging
Assessment of connective tissue signs (such as hypermobility)
Coordination of appropriate genetic testing
This process is particularly important for patients with:
Neurogenetic conditions
Developmental epileptic encephalopathies
Suspected Ehlers-Danlos syndrome
Undiagnosed multisystem symptoms
Neurodevelopmental differences
Inborn errors of metabolism
Rare metabolic or chromosomal disorders
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Long-Term Care for Complex and Multisystem Conditions
Lifelong Partnership in Rare Disease Care
Rare diseases are rarely simple — and rarely short-term.
Dr. Duis provides longitudinal management for individuals with:
Angelman syndrome
Prader-Willi syndrome
Pitt-Hopkins syndrome
Kabuki syndrome
Undiagnosed genetic disorders
Rare metabolic conditions
Developmental epileptic encephalopathies
Multisystem syndromes
Connective tissue disorders
Neuromuscular diseases
Chromosomal disorders
Rare and complex disease
Rare disease management includes both medical oversight and quality-of-life planning.
What Ongoing Rare Disease Care Includes
Coordination with subspecialists
Monitoring for associated complications
Medication review and optimization
Family counseling
Transition planning into adulthood
Preventive screening
A physician who listens
A physician who offer evidence-based medication trials and oversight tailored to an individual person
A care partner that thinks of you as a person, leaves no stone unturned and is available when you need them most
The goal is stability, safety, and sustained health across the lifespan.
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Integrated Medical and Developmental Support
Genetic Causes of Developmental Differences
Many neurodevelopmental conditions have underlying genetic components.
Dr. Duis provides evaluation and management for:
Developmental delay
Intellectual disability
Autism spectrum conditions
ADHD in medically complex patients
Genetic syndromes associated with neurodevelopment
What This Care Includes
Genetic testing when appropriate
Behavioral and developmental assessment
School advocacy and IEP support
Coordination with therapy providers
Long-term developmental planning
Medication/therapeutic menagement
Medical and developmental needs are addressed together — not separately.
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Supporting Patients Through Every Stage of Life
Coordinated Multidisciplinary Care
Patients with rare or complex conditions often see multiple specialists. Care coordination ensures that treatment plans are aligned and comprehensive.
Services include:
Review of outside records
Specialist collaboration
Medication reconciliation
Communication with primary care providers
Transition From Pediatric to Adult Care
For adolescents with lifelong conditions, transition planning is critical.
Transition services may include:
Adult specialist referrals
Self-management education
Legal and guardianship considerations
Long-term health planning
This process ensures continuity, safety, and empowerment.
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Virtual Genetic and Rare Disease Consultations
For appropriate patients, telehealth consultations are available for:
Genetic counseling follow-up
Rare disease management
Review of prior records
Ongoing care coordination
Telemedicine expands access while maintaining thoughtful, personalized care.
Virtual Genetic and Rare Disease Consultations
For appropriate patients, telehealth consultations are available for:
Genetic counseling follow-up
Rare disease management
Review of prior records
Ongoing care coordination
Telemedicine expands access while maintaining thoughtful, personalized care.
