Providing specialized services and techniques for the diagnosis and/or management of patients with inherited disorders associated with intellectual disabilities and/or developmental abnormalities.
We provide services to the Kennedy Krieger Institute, the adjacent Johns Hopkins Hospitals and affiliates, and also to the medical and genetics communities through 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
Our services are divided into two specialized laboratory sections as follows:
- Biochemical Genetics
- Peroxisomal Diseases
Separate information sheets (requisitions) that list available procedures, CPT codes, sample requirements, shipping instructions, and prices are located on this web site under “Forms”.
For More Information:
If you have any questions regarding the services provided, tests offered, sample requirements, shipping results or interpretation of results, or for general questions or concerns, please contact us. 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.