List of Tests


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Requisition Forms for the Biochemical Genetics Laboratory
	Organic acid gas chromatography/mass spectrometry
	Amino Acid Analysis, quantitative
	N-acetyl-l-aspartic acid (Canavan disease)
	Canavan disease - prenatal diagnosis
	3-Methylglutaconic acid
	Orotic Acid
	Mevalonate ( Mevalonic Aciduria, Hyper IgD S.)
	Cholestanol (Cerebrotendinous xanthomatosis)
	Sitosterol (Sitosterolemia, Phytosterolemia)
	Guanidinoacetic Acid + Creatine
	8(9)-Cholestenol (Chondrodysplasia Punctata)
	Smith-Lemli-Opitz syndrome - prenatal diagnosis
	Cholesterol Biosynthesis Intermediates: 7-Dehydrocholesterol (Smith-Lemli-Opitz Syndrome); Lathosterol (Lathosterolosis); Desmosterol (Desmosterolosis)
Requisition Forms for the Peroxisomal Diseases Section
	FORM #1 BIOCHEMICAL TESTS USING BLOOD OR URINE
	Plasma Very Long Chain Fatty Acids: Includes Phytanic Acid (screening test for peroxisomal disorders)
	Red Blood Cell Plasmalogen Content (screening test for rhizomelic chondrodysplasia punctata)
	Plasma Total Lipid Fatty Acid Profile: Includes C8 to C26 saturated, monounsaturated, polyunsaturated (essential), trans and branched chain fatty acids
	Red Blood Cell Total Lipid Fatty Acid Profile: Includes C8 to C26 saturated, monounsaturated, polyunsaturated fatty acids and plasmalogens
	Pipecolic Acid: Plasma or Urine
	FORM #2 BIOCHEMICAL TESTS USING CULTURED CELLS (INCLUDING PRENATAL TESTING)
	Very Long Chain Fatty Acids (Fibroblast)
	Peroxisomal Plasmalogen Synthesis (Fibroblast)
	Phytanic Acid Oxidase (Fibroblast)
	Pristanic Acid Oxidase (Fibroblast)
	Catalase Distribution (Fibroblast)
	Diagnostic Peroxisomal Enzyme Package (Fibroblast) Includes the 5 tests above
	Prenatal Diagnosis for Peroxisomal Disorders (For the diagnosis of X-linked ALD, Zellweger Syndrome, neonatal ALD, and rhizomelic chondrodysplasia punctata)
	FORM #3 DNA TESTING
	DNA Testing for X-Linked Adrenoleukodystrophy
	DNA Testing for PEX7 Gene (rhizomelic chondrodysplasia punctata type 1)
	DNA Testing for PEX1, PEX2, PEX10, PEX12 and PEX26 Genes (Zellweger Spectrum Peroxisomal Biogenesis Disorders)
	FORM #4 RBC DHA CONTENT (FOR RETINITIS PIGMENTOSA & OTHER DISEASES)
	Red Blood Cell DHA Content

To order at test please use a Pathology 17 Requisition form, POE, or call the Laboratory at (443) 923-2785 for a requisition form