We remember a mother who arrived worried and hopeful. Her toddler had unexplained delays and a string of tests that gave little clarity. We sat with the family, reviewed labs, and outlined how targeted molecular testing could change the plan.
That conversation shaped how we deliver care. Our team—geneticists, counselors, cytogeneticists, and a metabolic nutritionist—combines clinical service with active research. We coordinate with pediatric subspecialties to speed diagnosis and start interventions sooner.
We define pediatric genetics as medical genetics applied to children, integrating lab analysis with clinical interpretation to guide care. Our services translate cutting-edge research into practical protocols. For more on modern sequencing and array approaches, see recent literature on test selection and interpretation at current sequencing methods.
Key Takeaways
- We combine clinical care with research to improve outcomes for children.
- Early recognition and precise molecular characterization guide interventions.
- Our services span intake, testing, counseling, and long-term follow-up.
- Genomic insights inform prognosis, recurrence risk, and surveillance.
- Transparent communication helps families make informed decisions.
Compassionate Pediatric Genetics Care Tailored to Your Child’s Needs
From first contact we assign a lead geneticist who ensures rapid coordination of testing, results disclosure, and follow-up. We pair that lead with board-certified counselors and lab specialists so families have direct access to clinical interpretation and timely plans.
Our multidisciplinary team includes registered nurses, a metabolic nutritionist, a registered dietitian, and cytogeneticists. We integrate specialty services to address medical, psychosocial, and logistical needs in one care pathway.
We provide clear education that translates complex findings into practical steps. Counseling sessions are standardized to cover implications for siblings and relatives when needed.
- Lead clinician model: single point of contact from intake to results.
- Holistic support: action plans, school coordination, and community referrals.
- Integrated therapy: nutrition and metabolic input aligned with medical treatment.
We engage families as partners and document preferences for communication and testing. This continuity reduces fragmentation and builds a durable therapeutic alliance for each child and family.
When to Consider a Genetics Evaluation for Your Child
Consider a formal evaluation when developmental milestones lag or unexplained medical signs appear. Early assessment improves diagnostic speed and directs care.
Common reasons for referral: developmental delays, poor growth, and birth defects
We recommend evaluation when a physician documents developmental delay, hypotonia, seizures, dysmorphic features, or multisystem findings that suggest chromosomal or Mendelian disorders.
We assess birth defects such as cleft lip/palate and congenital heart defects and integrate cardiac and craniofacial input into testing decisions.
Support across the lifespan: pediatric and adult concerns within families
We extend services to adults in affected families for cascade testing, surveillance, and care transition planning. This ensures continuity from child to adult care.
Family planning and assessing recurrence risk
We provide clear information on reproductive risks, gene-specific recurrence estimates, and prenatal or preconception options.
| Presentation | Suggested Tests | Next Steps |
|---|---|---|
| Developmental delay / autism spectrum features | Chromosomal microarray, targeted panels, exome | Genetic counseling, tailored therapy referrals |
| Birth defects / congenital anomalies | Imaging, cardiac echo, diagnostic sequencing | Multispecialty coordination, surgical planning |
| Growth faltering or overgrowth | Endocrine evaluation, CNV testing, imprinting studies | Nutritional plan, metabolic assessment |
We collaborate closely with the referring physician to complete pre-test workup, secure authorizations, and time testing alongside other evaluations.
Our Pediatric Genetics Services: Evaluation, Testing, Counseling, and Ongoing Care
We offer a coordinated pathway that blends clinical evaluation, advanced testing, and long‑term care planning. Our outpatient clinic and inpatient consult teams work together so families receive timely assessment and clear next steps.
Comprehensive clinical evaluation
We begin with a focused exam led by a geneticist and genetic counselors. This includes phenotype review, a three‑generation pedigree, and targeted physical assessment.
State‑of‑the‑art testing options
We select chromosomal microarray, single‑gene tests, multigene panels, exome/genome, or mitochondrial studies based on the clinical picture. We explain what genetic testing can and cannot determine, including detection limits and variant interpretation.
Counseling and informed decision‑making
Pre‑ and post‑test counseling is standardized. We address psychosocial impact, consent, and how results affect diagnosis, recurrence risk, and family planning.
Management, therapy, and resources
When indicated, we deliver enzyme therapy and coordinate diet management for metabolic conditions. Management plans include surveillance protocols, emergency letters, and referrals.
“Clear documentation and actionable recommendations guide schools, therapists, and the primary team.”
- Formalized diagnosis communication and ICD coding
- Connections to national foundations and local support resources
- Longitudinal follow‑up with variant reanalysis and trial updates
For practical screening options and further reading see our genetics health screening page at genetics health screening.
Genetic Disorders and Conditions We Commonly Diagnose and Manage
Clinical presentation guides selection of targeted tests to identify chromosomal, metabolic, and neurodevelopmental causes.
Chromosomal and microdeletion syndromes are common referrals. We confirm Down syndrome, Turner syndrome, and 22q11.2 deletion by karyotype, FISH, or microarray as indicated.
Metabolic and lysosomal diseases
We manage metabolic disorders such as phenylketonuria (PKU) with dietary phenylalanine restriction, adjunct pharmacotherapy when appropriate, and serial biochemical monitoring.
For lysosomal storage diseases we coordinate enzyme replacement, specialty follow-up, and supportive multisystem care.
Neurodevelopmental and neurologic conditions
Our approach to autism spectrum disorder, epilepsy, and intellectual disability uses a genetics-first framework. Testing and surveillance are tailored to the child and family.
| Category | Examples | Typical tests |
|---|---|---|
| Chromosomal | Down, Turner, 22q11.2 deletion | Karyotype, microarray, FISH |
| Metabolic / Lysosomal | PKU, Gaucher, Fabry | Biochemical assays, targeted sequencing |
| Neurodevelopmental & Other | Autism spectrum, epilepsy, Fragile X, cystic fibrosis | Panels, exome, targeted gene tests |
We clarify distinctions between diseases, disorders, and broader conditions to set expectations for prognosis, therapy eligibility, and family screening.
Collaborative Pediatric Care and Research-Driven Innovation
Our clinics bring subspecialists together so families receive a unified diagnostic and treatment plan.
We convene multidisciplinary clinic sessions with cardiology, neurology, oncology, endocrinology, nephrology, gastroenterology, and pulmonology.
These sessions align imaging, labs, and interventions into one coordinated plan. We leverage medical genetics expertise to reduce repeat testing and speed time to answers.
Translating research into better care
Our research program links clinical data to trials and biobanking.
We translate discoveries into protocols that expand access to new diagnostics and investigational therapy when appropriate.
Team processes and family support
We run structured case review meetings to standardize quality measures and track outcomes.
Genetic counseling is offered at key decision points and during transition to adult care for inherited conditions.
| Service | What we do | Impact for families |
|---|---|---|
| Multidisciplinary clinic | Joint visits with multiple specialty physicians | Single plan, fewer visits, faster interventions |
| Research translation | Biobanking, trials, protocol development | Access to novel diagnostics and therapies |
| Care coordination | Standardized pathways and outcome tracking | Consistent follow-up and clear emergency plans |
| Genetic counseling | Pre/post testing and adult transition support | Informed decisions for families and adults |
How to Access Our Medical Genetics Clinic and Schedule an Appointment
Referrals and a concise clinical summary help our team triage appointments and testing priorities quickly.
What to expect: referrals, insurance considerations, and preparing for your visit
Referral requirements: A provider—often a pediatrician or specialist—must submit a referral and recent records. Electronic fax or patient portal transfer speeds processing.
Scheduling and inpatient options: Typical wait times vary by urgency. We offer outpatient slots and inpatient consultations when a child is hospitalized.
Bring prior test reports, imaging, growth charts, medication lists, and written questions. This information helps the team and counselors prepare targeted counseling and testing plans.
Authorization and costs: We assist with pre‑certification for testing and provide financial counseling about possible out‑of‑pocket costs.
We coordinate sample collection on site—phlebotomy or buccal swab—and handle secure transport for metabolic and molecular testing.
“Clear post‑visit summaries and prompt report sharing to referring clinicians and schools are standard practice.”
- Resources and interim support are available while testing is pending.
- Counselors deliver results, explain implications for the disorder, and outline next steps for management and family support.
Conclusion
, Timely testing and coordinated care close diagnostic gaps and speed treatment. We deliver pediatric genetics expertise with clear plans for evaluation, diagnosis, and ongoing management.
We combine medical genetics, research, and multidisciplinary teams to address a wide range of disorders and syndromes. Families receive access to genetic testing and genetic counseling that inform therapy, surveillance, and family planning.
We support families with education, vetted resources, and ongoing reanalysis as new data emerge. To begin, schedule an appointment and review practical disease prevention information at genetics disease prevention.
FAQ
What is a genetics evaluation and when should we consider one for our child?
A genetics evaluation is a clinical assessment by a medical geneticist and a genetic counselor. We recommend it for unexplained developmental delays, growth concerns, birth defects, recurrent unexplained hospitalizations, or a family history of genetic conditions. The visit clarifies diagnosis, guides testing, and informs management and family planning.
What happens during a first appointment at the medical genetics clinic?
During the initial visit we review medical history, perform a focused exam, and discuss symptoms and family history. We explain testing options, potential outcomes, and next steps. We also coordinate referrals to subspecialties such as cardiology, neurology, or endocrinology as needed.
Which tests might be recommended and what can they reveal?
Testing options include chromosomal microarray, single-gene tests, gene panels, exome sequencing, and metabolic screens. These tests can identify chromosomal syndromes, single-gene disorders, metabolic conditions, and actionable findings that inform therapy, surveillance, or reproductive choices.
How does genetic counseling support families?
Genetic counselors provide clear explanations of results, recurrence risks, and implications for relatives. We help families weigh testing benefits and limits, discuss treatment options like enzyme therapy or diet management, and connect them with community resources and support services.
Can a genetic diagnosis change medical care or outcomes?
Yes. A precise diagnosis can lead to targeted treatments, early interventions, surveillance for known complications, and enrollment in clinical trials. It guides decisions on therapies, nutrition, and specialty care to improve long-term outcomes.
What conditions do you commonly diagnose and manage?
We frequently evaluate chromosomal and microdeletion syndromes such as Down syndrome, Turner syndrome, and 22q11.2 deletion. We also manage metabolic and lysosomal disorders like phenylketonuria, and neurodevelopmental conditions including autism spectrum disorder, epilepsy, and intellectual disability.
How do you coordinate care across specialties?
We run multidisciplinary clinics that include cardiology, neurology, oncology, endocrinology, nutrition, and therapy teams. This model ensures integrated care plans, timely referrals, and collaborative decision-making for complex conditions.
What should families bring to the genetics appointment?
Bring prior medical records, growth charts, imaging reports, current medications, and a three-generation family history if available. Also prepare questions about testing, prognosis, and support services to maximize the visit.
How do insurance and referrals work for genetic services?
Many insurers cover medically indicated evaluations and tests, though prior authorization may be required. We assist with referrals, benefits verification, and documentation to facilitate coverage and minimize unexpected costs.
What resources are available for families after diagnosis?
We connect families with condition-specific advocacy groups, national registries, therapy programs, and educational support. We also provide written educational materials and referrals to genetic counselors for ongoing questions and family planning.
How do you handle adult genetic concerns within a family?
We offer lifetime care and cascade testing for at-risk relatives. Adults with hereditary conditions benefit from risk assessment, surveillance recommendations, and coordination with adult medicine specialists to manage long-term health.
Are research opportunities available for families seeking novel treatments?
Yes. We participate in clinical research and trials aimed at understanding rare disorders and developing therapies. Eligible families may be offered enrollment, which can provide access to cutting-edge interventions and contribute to scientific progress.