Clinical Services

Tests available through the Genetics Laboratories at Kennedy Krieger Institute are listed below by section. Please download the appropriate requisition form for pricing, sample, and shipping requirements.

If you would like to send a sample to be tested as part of an ongoing research project at your institution, please visit the Research Services section of this web site.


Biochemical Genetics Tests:

  • Amino Acid Analysis, quantitative
  • N-acetyl-l-aspartic acid (Canavan Disease)
  • Acylcarnitine Profile
  • Carnitine, free and total
  • Cholestanol (Cerebrotendinous xanthomatosis)
  • Cholesterol Biosynthesis Intermediates:
    • 7-Dehydrocholesterol (Smith-Lemli-Opitz Syndrome)
    • Lathosterol (Lathosterolosis)
    • Desmosterol (Desmosterolosis)
  • 8(9) Cholestenol (CDPX2)
  • Guanidinoacetic Acid + Creatine
  • 3-Methylglutaconic acid
  • Methylmalonic acid
  • Mevalonate (Mevalonic Aciduria, Hyper IgD Syndrome)
  • Organic Acids gas chromatography/mass spectrometry
  • Orotic Acid
  • Sitosterol (Sitosterolemia, Phytosterolemia)
  • Prenatal Diagnosis:
    • Canavan Disease
    • Smith-Lemli-Optiz Syndrome

Biochemical Genetics Requisition Form


Peroxisomal Diseases Tests:

  • DHA (red blood cells)
  • Pipecolic Acid (plasma and urine)
  • Plasma Total Lipid Fatty Acid Profile: includes C8 to C30 saturated, monounsaturated, polyunsaturated (essential), trans, branched chain fatty acids, and the triene/tetraene ratio
  • Red Blood Cell Plasmalogen Content (Rhizomelic Chondrodysplasia Punctata)
  • Red Blood Cell Total Lipid Fatty Acid Profile: includes C8 to C30 saturated, monounsaturated, polyunsaturated (essential), trans, and branched chain fatty acids, and plasmalogens
  • Very Long Chain Fatty Acids, including Phytanic and Pristanic (plasma, fibroblasts) (X-linked Adrenoleukodystrophy, Zellweger Spectrum Disease)
  • Fibroblast Enzyme Analysis
    • Catalase Distribution
    • Phytanic Acid Oxidase
    • Pristanic Acid Oxidase
    • Plasmalogen Synthesis
  • Prenatal Diagnosis:
    • X-linked Adrenoleukodystrophy
    • Zellweger Spectrum Disease
    • Rhizomelic Chondrodysplasia Punctata

Peroxisomal Diseases Requisition Form

Contact Information

Address:

Kennedy Krieger Institute Genetics Laboratories
707 North Broadway
Room 500R
Baltimore, MD 21205

Billing Information:

Kennedy Krieger Institute Genetics Lab Billing Department
Attn: Ann Snitcher
Phone: (443) 923-2788
Fax: (443) 923-2755

Tax ID: 52-1524965
NPI Number1649595141

Announcements

As of May 1, 2017, we will no longer be offering peroxisomal testing in skin fibroblasts. We will continue to offer prenatal testing in cultured cells.

As of July 1, 2015, all cytogenetics testing has been transferred to Johns Hopkins Hospital. For more information about cytogenetics testing, please contact them at 443-923-2785.