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National Laboratory Network for Rare Disease Genetic Testing
A family of laboratories for orphan disease diagnostics.


The National Laboratory Network (NLN) was an outgrowth of the meeting "Promoting Quality Laboratory Testing for Rare Diseases: Key to Ensuring Quality Genetic Testing" held on May 20 and 21 in Atlanta, GA. The network was formed to meet the genetic testing needs of families and individuals affected by rare (or orphan) diseases for which genetic testing is not routinely available in appropriately accredited laboratories. NLN member laboratories comply with all accreditation and licensure programs applicable to their region and specialty.


Each member laboratory offers a program aimed at partnering with research laboratories and patient groups to:

  • Transfer technologies and tests developed in a research setting to clinical, fee-for-service laboratories
  • Report clinically significant results to patients and research participants through appropriate health care professionals
  • Develop protocols for the clinical confirmation of research findings.

The six charter laboratories are:

  • Medical Genetics Laboratories at Baylor College of Medicine, Houston, TX
  • Genetics Laboratory at Emory University School of Medicine, Atlanta, GA
  • GeneDx, Inc., Gaithersburg, MD
  • Molecular Genetics Laboratory at Hospital for Sick Children, Toronto, Canada
  • Orphan Disease Testing Center at University of California at Los Angeles, CA
  • University of Chicago Genetics Services Laboratories, Chicago, IL

While each participating laboratory is an independent genetic testing facility, all NLN members share a commitment to ensuring that affordable, quality genetic testing services are accessible to all individuals affected by rare genetic diseases.