Molecular Diagnostic Laboratory
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Advancing Care Through Pediatric Genetic Discovery
The Molecular Diagnostic Laboratory at Nemours Children's in Delaware Valley brings advanced genetic techniques to the understanding of childhood disorders. Our CLIA-certified facility provides comprehensive molecular testing for inherited conditions, with specialized expertise in muscular dystrophy, spinal muscular atrophy, and blood disorders like sickle cell disease and thalassemia.
We use molecular technologies such as Sanger sequencing, multiplex ligation-dependent PCR amplification (MLPA), and real-time PCR to conduct sophisticated DNA analyses. These tools help us identify the specific genetic changes involved in various inherited conditions. This enables physicians to make accurate diagnoses and targeted treatment plans.
Beyond clinical diagnostics, our lab serves as a research partner, working closely with clinicians, researchers, and academic institutions to advance our understanding of pediatric genetic conditions.
Through collaborative initiatives, we're shaping the future of pediatric medicine. Our research partnerships contribute to groundbreaking discoveries that advance treatment options and bring hope to children with genetic disorders.
Our Leadership
Karen Gripp, MD, FACMG
Medical Director
Susan Kirwin
Assistant Director
Lab Accreditations & Certifications
Our lab maintains the highest standards of quality and accuracy to support research:
- CLIA-accredited in Delaware and Pennsylvania
- Annual internal safety inspections and biennial CLIA inspections to maintain lab certifications.
- Standard operating procedures established and followed for all assays and equipment.
Research in Context
Our labs contribute to research that informs pediatric care, working in alignment with research centers and focused areas of scientific study at Nemours.
Blood Disorders Research
RESEARCH AREA
We explore blood disorders in children to advance care and outcomes through innovation in diagnostics, treatment, and long-term disease management.
Cancer Research
RESEARCH AREA
Investigators study childhood cancers to improve diagnosis, treatment, and survivorship through discovery science, clinical trials, and systemwide collaboration.
Clinical Pharmacogenomics
CLINICAL CARE
Personalized medication guidance based on genetic testing, helping tailor treatments and reduce side effects for children with medical conditions.
Genetics
CLINICAL CARE
Genetic evaluation, diagnosis, and counseling for children with inherited conditions throughout the Delaware Valley and Florida.
