Phosphohexose isomerase
CPT4 code
Name of the Procedure:
Phosphohexose Isomerase (PHI) Assay
Commonly known as: Glucose-6-Phosphate Isomerase (GPI) Assay
Summary
The Phosphohexose Isomerase (PHI) assay is a laboratory test that measures the activity of the enzyme phosphohexose isomerase in a patient's blood or tissue samples. This enzyme is important for the glycolytic pathway, which is critical in cellular energy production.
Purpose
The PHI assay is used to diagnose and monitor metabolic and genetic conditions that affect the glycolytic pathway. It helps in identifying deficiencies or abnormalities in enzyme activity that could lead to various health issues, including hemolytic anemia.
Indications
- Symptoms of hemolytic anemia such as fatigue, pallor, jaundice, and shortness of breath.
- Genetic screening for conditions like hereditary non-spherocytic hemolytic anemia.
- Patients with unexplained biochemical anomalies suggestive of glycolytic pathway dysfunction.
Preparation
- No special fasting or medication adjustments are typically needed, except as directed by a healthcare provider.
- A blood sample will be taken, so it's important to inform the doctor of any medications or existing health conditions.
- Pre-assessment for patient’s medical history and any prior enzyme deficiency disorders.
Procedure Description
- Blood or tissue sample collection: A healthcare provider will draw a blood sample from a vein in your arm, or obtain a tissue sample if necessary.
- Laboratory analysis: The collected sample is sent to a lab where it is processed and analyzed to measure the activity level of the phosphohexose isomerase enzyme.
- Interpretation: Results are then interpreted by a medical professional to determine if enzyme levels are within normal ranges or if there are signs of deficiency.
Duration
The collection of a blood sample takes only a few minutes. Laboratory analysis and the return of results can take from a few days to a week.
Setting
- Outpatient Clinic
- Hospital Laboratory
Personnel
- Phlebotomist or nurse for sample collection
- Laboratory technician or technologist for sample analysis
- Pathologist for interpretation of results
Risks and Complications
- Minor risks related to blood sample collection include bleeding, infection, or bruising at the puncture site.
- Rare chance of fainting or feeling lightheaded.
Benefits
- Identifies enzymatic deficiencies that could be key in diagnosing metabolic or genetic disorders.
- Enables timely intervention and treatment to manage symptoms and prevent complications.
Recovery
- No recovery time is needed after the blood draw.
- Patients can resume normal activities immediately following the procedure.
Alternatives
- Other enzyme assays or metabolic tests depending on the symptoms and suspected condition.
- Genetic testing for hereditary conditions.
- Each alternative presents different levels of specificity and invasiveness.
Patient Experience
- During the procedure, patients will feel a slight prick when the needle is inserted for blood sampling.
- Post-procedure, minimal discomfort is expected.
- Pain management typically includes applying pressure to the puncture site to reduce bruising and keeping the arm still.
By understanding the Phosphohexose isomerase assay, patients and healthcare providers can better interpret metabolic anomalies and diagnose underlying conditions that affect the glycolytic pathway.