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

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
Gene Sequence Analysis

(CPT2, ACADVL, CAV3, PYGM, RYR1, CACNA1S)

10 mL EDTA blood Shipped at room temperature by overnight carrier Analysis of individual gene coding regions to identify pathogenic mutations
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