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About Us

DDL Team Group Photo

Established in 1979, the Johns Hopkins DNA Diagnostic Laboratory is a CLIA and CAP certified; Maryland, New York, and Pennsylvania licensed clinical genetics testing laboratory specializing in rare inherited disorders. Led by renown professor of pediatrics and medical genetics Dr. Garry R. Cutting, the lab offers testing for a range of approximately 50 phenotypes and disorders totaling 3,500 tests annually. Techniques include: 

  • Next Generation Sequencing (NGS; sequence and deletion/duplication analysis) 
  • Sanger sequencing
  • Mass spectrometry genotyping
  • Methylation analysis
  • PCR/fragment analysis
  • Multiplex ligation-dependent probe amplification (MLPA)

In addition to its core mission, the Johns Hopkins DNA Diagnostic Laboratory is also proud to serve as the Genetics Translational Technology Core (GTTC) Laboratory and the Cystic Fibrosis Foundation’s Mutation Analysis Program (MAP) Laboratory.

The lab's website is intended for the use of health care providers and we are not able to consult directly with patients. Health care providers and patients may find some helpful resources on our Patient and Family Resources page.


Certifications & Permits

Proficiency Testing: Participant in CAP Surveys, Inter- and Intra-laboratory comparison challenges.