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.
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
- Pipecolic Acid (plasma and urine)
- Plasma Total Lipid Fatty Acid Profile: includes C10 to C26 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 C10 to C26 saturated, monounsaturated, polyunsaturated (essential), trans, and branched chain fatty acids
- Very Long Chain Fatty Acids, including Phytanic and Pristanic (plasma, fibroblasts) (X-linked Adrenoleukodystrophy, Zellweger Spectrum Disease)
- C26:0 lysophosphatidylcholine (screen for peroxisomal disorders, including carrier status of X-linked adrenoleukodystrophy)
- Prenatal Diagnosis:
- X-linked Adrenoleukodystrophy
- Zellweger Spectrum Disease
- Rhizomelic Chondrodysplasia Punctata