Molecular Diagnostic Laboratory
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Advancing Care Through Pediatric Genetic DiscoveryÌý
The Molecular Diagnostic Laboratory at ¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾«Æ· 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.Ìý
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.Ìý
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 LeadershipÌý
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 DelawareÌýand 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 ¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾«Æ·.
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.
Diagnostic Tests We Offer
Our comprehensive testing services are readily accessible, with flexible sample collection options including both blood draws and at-home buccal swab kits for select tests. We use many molecular technologies including Sanger sequencing, TaqMan Real-time polymerase chain reaction (qPCR), MLPA, and fragment analysis.Ìý
With clinical excellence and cutting-edge research capabilities, we continue to expand the boundaries of what's possible in pediatric genetic medicine, offering hope and answers to children and families affected by genetic conditions.
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Specimen Requirements
Whole Blood Samples
- Ship one EDTA (purple top tube) containing 2ml – 4ml whole blood.
- For infants or small children, minimum sample is 1ml – 2ml.
DNA Samples
- Ship 5-10 micrograms of DNA.Ìý
- Buccal (cheek) swabs are an acceptable source for some tests. Please inquire with the lab about receiving an at-home buccal kit.
Shipping Specimens to Our FacilityÌý
Send samples to:
¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾«Æ· Children’s Hospital, Delaware
Molecular Diagnostics Lab: Susan Kirwin
RC1 Lab 155
1600 Rockland Rd.
Wilmington, DE 19803
Email:Ìýmdl@nemours.org
Phone:Ìý(302) 651-6775
Shipping Notes
- All blood samples should be shipped within 7 days by overnight delivery.Ìý
- Samples drawn on a Friday should be kept in the refrigerator for shipping on Monday.Ìý
- We are closed on holidays and samples should be shipped accordingly.
Test Ordering & Access
A complete test requisition form must be included with each sample. Billing information and an ordering physician with contact information are required.Ìý
Please indicate if the report should be emailed or faxed and include all requested information.
Payment Information
The submitting institution is responsible for all test payments. We do not bill insurance companies for external samples. All payment arrangements should be made through your institution. If your patients are covered by medical assistance, please contact our lab before submitting samples.
For Health Care Providers & Institutions
We work directly with institutions (clinical labs, send-out labs and physician offices). Here's what you need to know:
- If your institution requires a purchase order number, please include it with your sample submission.
- Invoices are generated when testing is complete.
- Payment is due within 30 days of receiving your invoice.
For Direct Patient Billing Through Your Institution
If you're billing the patient directly through your institution, please follow these steps:
- Complete ourÌýcredit card form.Ìý
- Include the form with the sample submission.
- Payment must be received before testing begins.