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More on Pediatric Genetics
- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- Chromosome Abnormalities
- Chromosome Abnormality vs. Single Gene Defect
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- Down Syndrome (Trisomy 21)
- Genetic Services: When, Where, How
- Glossary - Medical Genetics
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Medical Genetics
- Medical History and Genetic Testing
- Mosaic Down Syndrome
- Mosaicism
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Overview of Chromosome Abnormalities
- Overview of Single Gene Defects
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- The Human Genome Project
- Trinucleotide Repeats: Fragile-X Syndrome
- Trisomy 18 and 13
- Turner Syndrome
- Types of Chromosome Abnormalities
- Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
- Uses of Genetic Testing
- Vitamin, Gene, and Enzyme Replacement Therapy
- When to Seek Genetic Counseling
- X-linked Agammaglobulinemia
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
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Genetics
Pediatric Genetics
We offer comprehensive genetic services. Typically patients are referred to evaluate the possible genetic cause of a birth defect, difficulties with growth, developmental delay, autism, seizures, deafness, blindness, or because of a family history of a known genetic disorder.
The evaluation of the patient begins as soon as an appointment is scheduled. With assistance from the family, our secretarial staff and genetic counselors begin to gather and review medical records from the referring physicians and the family. A questionnaire is mailed to you to gather further information on the patient's prenatal and medical history. Often the medical history of our patients is complex, and we strive to be thorough and make your initial evaluation as productive as possible by gathering information before your visit.
On the date of your visit you will meet with a genetic counselor and a clinical geneticist who will review your child's and family's histories and perform a physical exam. A diagnostic plan is developed and discussed with you. Often, the necessary blood, urine or other samples can be collected on the day of your visit.
We assist families in obtaining any necessary insurance authorizations for specialized genetic tests that may be out-of-network with your insurance company.
If appropriate, we will identify research studies applicable for your family, and identify patient support groups that may be helpful.
When necessary, we make referrals to our team of specialists who are available to assist with your child's diagnosis and management.
Specific recommendations for treatment and discussion of reproductive options are an integral part of the evaluation. For families with a known or newly identified genetic condition, we will coordinate comprehensive clinical care to maintain health. We coordinate the care of many children with rare genetic disorders. We work closely with your child's doctors who will all receive written reports and updates when our evaluation is completed.
