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

Cytogenetics Tests:

• Peripheral Blood High Resolution Chromosome Analysis
• Chromosomal Breakage Analysis -- Fanconi Anemia and Ataxia Telangiectasia
• Fluorescence in situ hybridization (FISH) Analysis -- 22q11.2 deletion or duplication syndromes, sex-determining region Y deletion or rearrangement, subtelomeric abnormalities
• Array SNP-based Analysis

Peroxisomal Disesases 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