Forms: Specimen requirements for biochemical testing

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 + a control specimen from an unrelated volunteer)	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	Provides complete amino acid profile
Amino Acid Analysis, Special	4-5 drops of whole blood spotted on newborn screening filter paper card	Ship by regular mail double enveloped and labeled	Provides phenylalanine & tyrosine monitoring for PKU patients
Metabolic Screen	10 mL urine	Ship overnight frozen on dry ice	Provides 9 qualitative and semi-quantitative tests for amino acidopathies, reducing substance, ketones, and methyl malonic acid
Metabolic Muscle Disease Screens	150-200 mgs. cardiac or skeletal muscle tissue	Ship overnight frozen on dry ice (see Instructions for the Acquisition, Handling, and Shipping of Skeletal and Cardiac Muscle Specimens)	50 mg. minimum for individual test requests; (Modified Mitochondrial Myopathy Screen requires 50 mgs.)
Lipid Myopathies: Carnitine	50 mgs. skeletal or cardiac muscle, or 1 mL plasma, or 2-5 mL urine	Ship overnight frozen on dry ice	Provides quantitation of total, free and esterified carnitine
Lipid Myopathies: Carnitine palmitoyl- transferase CPT) II	100 mgs. skeletal muscle	Muscle shipped frozen	Provides quantitation of CPT enzyme activity. Citrate synthase activity is quantified for use in a ratio analysis with CPT
Mutation analysis (CPT II deficiency; myophosphorylase deficiency; myoadenylate deaminase deficiency)	5 mL EDTA blood (preferred) or 100 mgs. skeletal muscle, or pelleted cultured fibroblasts or lymphoblasts	Blood shipped at room temperature; muscle or cell pellets shipped frozen on dry ice (in either case use overnight carrier)	Provides analysis for the common mutations causing the disorders described
Coenzyme Q10 Analysis	100 mgs frozen skeletal muscle	Ship overnight frozen on dry ice	Provides quantitation of Coenzyme Q10 for the diagnosis if primary or secondary Coenzyme Q10 deficiency in muscle