Providing specialized services and techniques for the diagnosis and/or management of patients with inherited disorders associated with intellectual disabilities and/or developmental abnormalities.
Over the years, we have grown to encompass two laboratory sections (see below), hence we are now known as the Genetics Laboratories.
Our services are not only provided for the staffs of the Kennedy Krieger Institute and the adjacent Johns Hopkins Hospital but also to members of medical and genetics communities throughout the United States and internationally
Areas of special interest and expertise:
- Metabolism of amino acids
- Metabolism of organic acids
- Metabolism of complex lipids
- Metabolism of very long chain fatty acids
- Cholesterol biosynthesis
Among many specific diseases for which we offer testing are:
- X-linked adrenoleukodystrophy (XALD)
- Smith-Lemli-Opitz syndrome
- Zellweger Spectrum Disorders
- Canavan Disease
- Rhizomelic and X-linked Chondrodysplasia Puncatata
The diagnostic testing offered by the Genetics Laboratories is carried out in conjunction with or as a result of both the research interests and the clinical care provided by the Kennedy Krieger Institute. As a result, the laboratory directors and staff can provide timely results and expert interpretations.
In order to make maximum utilization of the clinical, and research expertise of the staff, the services are divided into two specialized laboratory services or sections. These sections are as follows:
- Biochemical Genetics
- Peroxisomal Disease
R.O. Jones and Carol Tiffany
Separate information sheets that list available procedures, CPT codes, sample requirements, shipping instructions, and prices are located on this web site.
Accreditation, Certification & Licensure:
The Genetics Laboratories is certified by the Department of Health and Human Services under CLIA ID #21D0649789, accredited by CAP #1353022 (see COVID accreditation letter), and licensed by the States of Maryland lab permit #802, Pennsylvania lab permit 033873 and California lab permit CDS00800866. The Kennedy Krieger Institute's EIN is #52-1524965 and the laboratory NPI# is 1649595141.
Laboratory staff participate in the quality assurance and proficiency testing program (Biochemical Genetics Survey) offered by the College of American Pathologists (CAP) and the European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM).
For More Information:
If you have any questions regarding the services provided, tests offered, sample requirements, shipping results or interpretation of results, please contact the appropriate individual on the list provided. We look forward to the opportunity to work with you and your staff, and we will be happy to answer any questions you may have.
For general questions and concerns, the administrative contact for the Genetics Laboratories is R.O. Jones. He can be contacted at firstname.lastname@example.org or (443) 923-2788.