Specimen Requirements for Biochemical and Molecular Testing
 

   
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      printer icon  Specimen Requirements for Biochemical and Molecular Testing          
       
Lysosomal Storage Diseases, General 
       (Including Tay-Sachs disease carrier testing)
       Specimen Requirements: 10 cc heparinized whole blood (1 green top tube)
       Shipping Instructions: Ship at room temperature 
       Additional Information: 5 cc whole blood acceptable for analysis in infants
        
Amino Acid Analysis, General
       Specimen Requirements: 1.0 cc plasma (separated within 30 min of
          collection); 1-5 cc urine;  0.5 cc cerebrospinal fluid
       Shipping Instructions: Ship overnight frozen on dry ice
       Additional Information: Provides complete amino acid profile

Amino Acid Analysis, Special
       Specimen Requirements: 4-5 drops of whole blood spotted on newborn
          screening filter paper card
       Shipping Instructions: Ship by regular mail double enveloped and labeled
       Additional Information: Provides phenylalanine & tyrosine monitoring for PKU
         patients

Metabolic Profile
       Specimen Requirements: 10 cc urine
       Shipping Instructions: Ship overnight frozen on dry ice
       Additional Information: Provides 9 qualitative and semi-quantitative tests for
         amino acidopathies, reducing substance, ketones, and methyl malonic acid

Metabolic Muscle Disease Profiles
       Specimen Requirements: 150-200 mgs. cardiac or skeletal muscle tissue
       Shipping Instructions: Ship overnight frozen on dry ice
       Additional Information: 50 mg minimum for individual test requests with
          the exception of Coenzyme Q10 which requires 100 mgs
         (Modified Mitochondrial Myopathy Profile requires 50 mg.)
   
Lipid Myopathies: Carnitine
       Specimen Requirements: 50 mgs skeletal or cardiac muscle or 2 cc plasma,
          or 2-5 cc urine
       Shipping Instructions: Ship overnight frozen on dry ice
       Additional Information: Provides total, free and esterified carnitine.

Lipid Myopathies: Carnitine Palmitoyltransferase
       Specimen Requirements: 50 mgs skeletal or cardiac muscle or 10 cc
          heparinized whole blood
          Mutation Analysis: Carnitine Palmitoyltransferase, Myophosphorylase,
          Myoadenylate Deaminase 
       Specimen Requirements: 10 cc EDTA whole blood or 100 mgs. skeletal
          muscle or pelleted cultured cells
       Shipping Instructions: Muscle shipped frozen; whole blood shipped at room
          temperature in styrofoam insulated box
        
 
Note: All heparinized blood specimens should be accompanied by 5 cc of blood from a normal control as a shipping & handling control.
     
 FYI: Before Contacting the Laboratory