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