SPECIMEN REQUIREMENTS FOR BIOCHEMICAL AND MOLECULAR TESTING
Please call laboratory office before shipping any specimens: (716) 859-7741
Collection, Shipping, and Handling Instructions
| Test Category | Specimen Requirements | Shipping Instructions | Additional Information |
| Lysosomal
Storage Diseases, General (Including Tay-Sachs disease carrier testing) |
10 mL heparinized whole blood (1 green top tube + 1 control specimen from an unrelated individual) | Ship at room temperature to arrive in laboratory within 24 hrs of collection | 5 mL whole blood acceptable for analysis in infants |
| Amino Acid Analysis, General | 1.0
mL plasma (separated within 30 min of collection) 1-5 mL urine 0.5 mL cerebrospinal fluid |
Ship overnight frozen on dry ice | Complete amino acid profile |
| Amino Acid Analysis, Special | 4-5 drops of whole blood spotted on newborn screening filter paper card; air dried | Ship by regular mail double enveloped and labeled | Phenylalanine & tyrosine monitoring is provided for PKU patients |
| Metabolic
Disease Profiles (Mitochondrial Myopathy Profile or Myoglobinuria Profile or Glycogen Storage Disease Profile) |
200 mgs. cardiac, skeletal muscle, or liver tissue | Ship overnight frozen on dry ice | 50 mg. minimum for individual test requests; (Modified Mitochondrial Myopathy Screen requires 50 mgs. total) |
| Lipid Myopathies: Carnitine | 50
mgs. skeletal or cardiac muscle, or 1 mL plasma |
Ship overnight frozen on dry ice | Quantitation of total, free and esterified carnitine |
| Lipid Myopathies: Carnitine palmitoyl transferase (CPT) II | 100 mgs. skeletal muscle | Shipped frozen overnight on dry ice | Quantitation of CPT enzyme activity. Citrate synthase activity is quantified as a mitochondrial marker to use in a ratio analysis with CPT |
| Mutation analysis (CPT II deficiency; Myophosphorylase deficiency; Myoadenylate deaminase deficiency) | 10 mL EDTA blood (preferred) or 100 mgs. skeletal muscle; pelleted cultured fibroblasts or lymphoblasts; or isolated DNA | Blood shipped at room temperature; muscle, cell pellets, or isolated DNA shipped frozen on dry ice. All specimens shipped by overnight carrier | Analysis of the common mutations causing the disorders described |
| Coenzyme Q10 Analysis | 100 mgs frozen skeletal muscle | Ship overnight frozen on dry ice | Quantitation of Coenzyme Q10 for the diagnosis if primary or secondary deficiency |
Robert Guthrie Biochemical & Molecular Genetics Laboratory
Room A-762, 100 High Street, Buffalo, NY 14203
Web Design By: RLComputing Phone: (716) 859-7741 | Fax: (716) 859-7749
Web Design By: RLComputing Phone: (716) 859-7741 | Fax: (716) 859-7749
