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Molecular Diagnostic Laboratory

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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.&nbsp;</p>\r\n<p>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.</p>\r\n<p>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.&nbsp;</p>\r\n<p>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.</p>\r\n"}} id=text-9453bb222f class=cmp-text>

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

Headshot
Karen Gripp, MD, FACMG</h2>\r\n"}} id=text-47b2dafbfd class=cmp-text>

Karen Gripp, MD, FACMG

Medical Director</h3>\r\n"}} id=text-184c20c8bd class=cmp-text>

Medical Director

Susan Kirwin</h2>\r\n"}} id=text-6dc7546b23 class=cmp-text>

Susan Kirwin

Assistant Director</h3>\r\n"}} id=text-fd14033356 class=cmp-text>

Assistant Director

Lab Accreditations & Certifications

Our lab maintains the highest standards of quality and accuracy to support research:</p>\r\n<ul>\r\n<li><a href=\"/content/dam/nemours/nemours-org/en/documents/mdl-delaware-clia-certificate.pdf\" target=\"_blank\">CLIA-accredited in Delaware</a>&nbsp;and <a href=\"/content/dam/nemours/nemours-org/en/documents/mdl-pennsylvania-clia-certificate.pdf\" target=\"_self\">Pennsylvania</a></li>\r\n<li>Annual internal safety inspections and biennial CLIA inspections to maintain lab certifications.</li>\r\n<li>Standard operating procedures established and followed for all assays and equipment.</li>\r\n</ul>\r\n"}} id=text-4039b192f6 class=cmp-text>

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·.</p>\r\n"}} id=text-51f96e0476 class=cmp-text>

Our labs contribute to research that informs pediatric care, working in alignment with research centers and focused areas of scientific study at ¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾«Æ·.

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.&nbsp;</p>\r\n<p>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.</p>\r\n"}} id=text-06de254e0c class=cmp-text>

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.

Specimen Requirements

<b>Whole Blood Samples</b></h3>\r\n<ul>\r\n<li>Ship one EDTA (purple top tube) containing 2ml – 4ml whole blood.</li>\r\n<li>For infants or small children, minimum sample is 1ml – 2ml.</li>\r\n</ul>\r\n<h3><b>DNA Samples</b></h3>\r\n<ul>\r\n<li>Ship 5-10 micrograms of DNA.&nbsp;</li>\r\n<li>Buccal (cheek) swabs are an acceptable source for some tests. Please inquire with the lab about receiving an at-home buccal kit.</li>\r\n</ul>\r\n"}} id=text-742d1478d1 class=cmp-text>

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

¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾«Æ·
Send samples to:</p>\r\n<p><b>¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾Ã¾«Æ· Children’s Hospital, Delaware<br>\r\n </b>Molecular Diagnostics Lab: Susan Kirwin<br>\r\nRC1 Lab 155<br>\r\n1600 Rockland Rd.<br>\r\nWilmington, DE 19803</p>\r\n<p><b>Email:</b>&nbsp;<a href=\"mailto:MDL@nemours.org\">mdl@nemours.org</a></p>\r\n<p><b>Phone:</b>&nbsp;<a href=\"tel:3026516775\" target=\"_blank\" rel=\"noopener noreferrer\">(302) 651-6775</a></p>\r\n<h3><b>Shipping Notes</b></h3>\r\n<ul>\r\n<li>All blood samples should be shipped within 7 days by overnight delivery.&nbsp;</li>\r\n<li>Samples drawn on a Friday should be kept in the refrigerator for shipping on Monday.&nbsp;</li>\r\n<li>We are closed on holidays and samples should be shipped accordingly.</li>\r\n</ul>\r\n"}} id=text-ad68207ee5 class=cmp-text>

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.&nbsp;</p>\r\n<p>Please indicate if the report should be emailed or faxed and include all requested information.</p>\r\n"}} id=text-9fcabafbdc class=cmp-text>

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.</p>\r\n<h3><b style=\"color: rgb(13,63,107);\">For Health Care Providers &amp; Institutions</b><br>\r\n</h3>\r\n<p>We work directly with institutions (clinical labs, send-out labs and physician offices). Here's what you need to know:</p>\r\n<ul>\r\n<li>If your institution requires a purchase order number, please include it with your sample submission.</li>\r\n<li>Invoices are generated when testing is complete.</li>\r\n<li>Payment is due within 30 days of receiving your invoice.</li>\r\n</ul>\r\n<h3><b>For Direct Patient Billing Through Your Institution</b></h3>\r\n<p>If you're billing the patient directly through your institution, please follow these steps:</p>\r\n<ul>\r\n<li>Complete our&nbsp;<a href=\"/content/dam/nemours/nemours-org/en/documents/molecular-diagnostic-lab-credit-card-form.pdf\">credit card form</a>.&nbsp;</li>\r\n<li>Include the form with the sample submission.</li>\r\n<li>Payment must be received before testing begins.</li>\r\n</ul>\r\n"}} id=text-5d7f9d2da4 class=cmp-text>

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.