About the Genetics Laboratories

The Genetics Laboratory, located at the Kennedy Krieger Institute in Baltimore Maryland, was established in 1968 to provide 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 three 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 include disorders affecting the metabolism of amino acids, organic acids, fatty acids, very long chain fatty acids, and cholesterol biosynthesis. Among many specific diseases for which we offer testing are:

  • X-linked adrenoleukodystrophy (XALD)
  • Zellweger Spectrum Disorders
  • Rhizomelic and X-linked Chondrodysplasia Puncatata
  • Canavan Disease
  • Smith-Lemli-Opitz syndrome
  • Fanconi Anemia
  • Ataxia Telangiectasia

Our microarray analysis utilizes a single nucleotide polymorphism (SNP) platform to detect copy number changes (CNC), and loss of heterozygosity (LOH) due to uniparental disomy (UPD) or consanguinity. Follow-up parental testing may be necessary to determine whether an aberration is inherited or de novo or to investigate the parent of origin of an abnormality. Parental testing will be performed at no charge for those aberrations determined to be of unknown clinical significance. However, follow-up parental specimens of patients with an abnormal, causative result will be charged as a diagnostic test.

We also provide fluorescence in situ hybridization (FISH) analysis and other high resolution chromosome analyses.

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 three specialized laboratory services or sections. These sections are as follows:

  • Cytogenetics
    Denise Batista, Elizabeth Wohler
    (443) 923-2785

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, and licensed by the State of Maryland lab permit #802. The Kennedy Krieger Institute's EIN is #52-1524965.

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 jonesri@kennedykrieger.org or (443) 923-2788.