Many rare genetic conditions can be hard to spot in babies and children. Their early signs can be mild and may be mistaken for effects of premature birth, environmental exposures, or other developmental differences. Early diagnosis is vital for guiding care, accessing services, and informing prognosis. With our pediatric genetics expertise, SequenceMD can help you find answers and take action to support your child.
Pediatric Genetics
As of 2025, the American Academy of Pediatrics recommends genome and exome sequencing as first-tier tests for children with global developmental delay or intellectual disability. Genetic evaluations can also be valuable for children with:
- Pattern of clinical signs/symptoms linked to genetic disorders
- Multiple congenital anomalies
- Atypical growth patterns
- Unique or surprising facial features
- Unexplained hearing loss
- Unexplained loss of vision/progressive blindness
- Family history of genetic conditions
- Seizures
- Neuromuscular concerns
- Concerns for prenatal drug exposure vs. genetic cause of symptoms
- Skin changes (e.g., multiple cafe au lait macules, port wine staining)
- Unexplained electrolyte derangements
- Abnormally frequent illnesses
- Chronic behavioral or mood problems
- Chronic digestive issues
Benefits of a Pediatric Genetics Evaluation
- Identify syndromes with implications for growth, behavior, organ function, and more
- Enable access to therapies, educational support, and early intervention
- Direct referrals to specialists (e.g., cardiology, neurodevelopment, endocrinology)
- Guide long-term prognosis and evolving care needs
- Clarify genetic risk for other family members and for future pregnancies
Holistic Pediatric Evaluations
SequenceMD begins all pediatric genetic evaluations with the patient, not the referral. Rather than testing based on a single suspected diagnosis, we consider the full clinical history, cross-system findings, and family risk assessment. Our team evaluates each patient holistically, weighing genetic, environmental, and familial factors and expanding testing for any additional risks found. Through thorough evaluation and testing, we establish a complete genomic health profile for your child.
Fully Integrating Genetics into Pediatric Care
With immediate openings and significantly shorter waiting times than many other pediatric genetics providers, SequenceMD delivers expert evaluation for children with suspected genetic conditions. We collaborate closely with pediatricians and care teams to provide actionable recommendations and coordinate long-term multidisciplinary care. Our team will:
- Coordinate workups for infants, toddlers, and children with complex needs
- Recommend diagnostic or screening genetic tests (e.g., CMA, exome, genome)
- Provide results counseling and ongoing care planning and guidance
- Serve as a centralized medical genetics resource across multiple specialties
- Facilitate testing of family members as needed
- Connect you with relevant resources and patient advocacy organizations
- Assist with transitions from pediatric to adult care when the time comes
