Neurologic Enzyme Evaluation

CPT CODE:

USEFUL FOR:

Evaluating patients who have a hemolyticprocess that is associated with some neurologic findings

SPECIMEN REQUIRED:

Draw blood in a yellow-top (ACD) tube(s), and send 10 mL ofACD whole blood refrigerated. Specimen cannot be frozen. Do not transfer blood to other containers.Note:    If not ordering electronically, please complete and submit a                   "Hematopathology/Molecular Oncology Request Form"                   (Supply T241) with the specimen.

TRANSPORT TEMPERATURE:

Refrig\Frozen NO\Ambient NO

CLINICAL INFORMATION:

Several red blood cell enzymes are known to cause anonspherocytic hemolytic anemia (HA). The most common causeof these are glucose-6-phosphate dehydrogenase (G-6-PD) andpyruvate kinase (PK) deficiency. Four other RBC enzymes thatcause HA have also been associated with hereditary myopathicor neurologic disorders. These enzymes are phosphofructokinase(PFK), triosephosphate isomerase (TPI), phosphoglycerate kinase(PGK), and glutathione synthase. Kinetic enzyme assays areavailable for the first 3 disorders. Quantitative measurementof glutathione substitutes for analysis of the enzyme glutathionesynthase.

CLINICAL INTERPRETATION:

Definitive results and an interpretive report will be provided.
Significant abnormal values typically are 25% of values obtainedfor a normal individual.

REFERENCE VALUES:

Definitive results and an interpretive report will be provided.