Amino Acid Analysis - Plasma

Clinical Use

Use

The Plasma Amino Acid test provides a quantitative analysis of amino acids (AA) in plasma. This test is crucial for identifying abnormal levels of 30 amino acids, which can lead to various disorders such as neurological, digestive, endocrine, muscle, liver, renal, neoplastic, and dermatological conditions. It is recommended as a primary screening test when inborn errors of metabolism are suspected. Amino acids, fundamental organic compounds, can be essential or non-essential. Disorders can present at any age, and proper treatment, such as dietary changes, can help prevent severe disabilities or fatal outcomes. This test is vital for diagnosing a wide range of inborn errors of metabolism related to amino acid metabolism.

Special Instructions

The sample requires collection in a Sodium Heparin (green-top) tube, which should be processed immediately to ensure integrity. For shipping, the specimen must be stored frozen and sent on dry ice, emphasizing the need for proper handling to maintain sample viability. The testing is ideal for patients presenting with symptoms like vomiting, poor feeding, and neurological distress, particularly when inherited metabolic disorders are suspected. Awareness and preparedness in specimen collection and transport is crucial for accurate results.

Limitations

Amino acid testing can indicate metabolic conditions, but false positives or negatives may occur due to various factors including sample contamination, improper storage, or inadequate separation of plasma. Not all amino acid disorders will present abnormal levels, and interpretation should be performed in conjunction with clinical findings and family history. The test results are intended for screening purposes and should not replace a comprehensive evaluation of the patient.

Test Details