CPMC specialists meet with children and their families to provide molecular testing for inherited genetic mutations and genetic disorders.
Pediatric geneticists work closely with families to provide a definitive diagnosis. Our team links families to other medical specialists as needed, as well as to community resources and support groups. We keep your child’s pediatrician and the referring doctor fully informed of screening results.
The Pediatric Genetic Care Center provides a wide array of services related to most genetic mutations and disorders, including:
- Amyoplasia congenita
- Autism
- Cardiac malformation syndromes
- Ciliopathies
- Diagnosis of inherited metabolic diseases
- Down Syndrome and other chromosomal disorders
- Dysmorphic features
- Family history of inherited genetic conditions
- Genetic causes of birth defects
- Inherited cancers
- Inherited eye diseases
- Inherited metabolic diseases
- Intellectual disability
- Internal anomalies
- Microdeletion syndromes
- Neurological conditions
- Single gene disorders