Medical Genetics

Common Symptoms:

• Frequent bone fractures
• Short stature
• Curved spine
• Heart and blood vessel anomalies

Common Symptoms:

• Delayed speech
• Difficulty with social skills
• Learning challenges
• Repetitive behaviors
• Delayed walking or motor skills
• Trouble focusing

Common Symptoms:

• Frequent infections
• Easy bruising or bleeding
• Fatigue
• Pale skin
• Swollen lymph nodes

Common Symptoms:

• Poor feeding
• Vomiting
• Low energy or extreme sleepiness
• Slow growth
• Developmental delays
• Regression or loss of skills
• Seizures

Common Symptoms:

• Muscle weakness
• Muscle stiffness
• Difficulty walking
• Poor balance
• Delayed milestones
• Seizures
• Learning problems

Common Symptoms:

• Unexplained medical problems
• Developmental delays
• Growth differences
• Seizures
• Multiple health concerns without a clear cause

Conditions Evaluated:

• Developmental delay
• Autism
• Neuromuscular disorders
• Hereditary cancer risk
• Rare and undiagnosed conditions

Before Testing:

You will meet with a genetics provider. They will ask about your health and family history. The team will explain what the test can and cannot show. We will review cost based on your specific insurance and/or income and will check if you qualify for financial assistance. A blood sample or saliva sample is usually collected.

After Testing:

Results may take several weeks to months. Our team will contact you when the results return and set up a time to go over them with you. We will explain the next steps, which may include treatment, screening, and/or family testing. Some results may not give a clear answer, and more testing may be needed.

Conditions Supported:

• Rare genetic syndromes
• Complex metabolic disorders
• Neuromuscular genetic conditions
• Multi-system genetic diseases

Before Care Coordination Begins:

The team reviews medical records and past testing. They meet with the patient and family to understand needs and goals. A care plan is created. Referrals to other specialists may be arranged.

After Care Coordination Begins:

Regular visits help track progress. The team updates the care plan as needs change. They help connect families to community resources and support services. The goal is steady, organized care over time.

Conditions Treated:

• Phenylketonuria (PKU)
• Organic acid disorders
• Urea cycle disorders
• Fatty acid oxidation disorders
• Other metabolic conditions

Before the Plan Begins:

Testing is done to confirm the condition. A dietitian and genetics provider create a care plan. This plan may include special formulas, diet changes, and supplements. Families receive clear instructions for sick days and emergencies.

After the Plan Begins:

Ongoing follow-up is important. Blood tests help monitor the treatment. Diet plans may change as a child grows. Special treatment during illness helps prevent complications. Many patients do well with regular care.

Conditions Evaluated:

• Inborn errors of metabolism
• Neuromuscular conditions including spinal muscular atrophy
• Hormone disorders
• Blood disorders
• Immune conditions

Before Follow-Up Testing:

If a result is not normal, your primary health care provider or a member of the our team will contact you. We will explain the next steps. This often includes additional testing that should be completed as soon as possible.

Depending on the newborn screening result, we may recommend temporary changes to your baby’s diet before final results are available. This helps keep your baby safe while we confirm or rule out a condition.

Most follow-up tests are simple blood or urine tests that can be done through your primary health care provider’s office. In many cases, an abnormal newborn screen turns out to be a false alarm.

After Follow-Up Testing:

If the condition is confirmed, treatment usually begins right away. Our team will guide you through the care plan. If results are normal, no further care may be needed. Ongoing support is always available.