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Amino Acid Profile, Quantitative, Plasma (36 Biomarkers)

$199.99

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The Amino Acid Profile, Quantitative, Plasma test measures the levels of 36 different amino acids in the blood. This test is primarily used for the diagnosis and monitoring of inherited aminoacidurias, organic acidurias, and urea cycle defects. It may also serve as a follow-up confirmatory test for abnormal newborn screening results.

Quick facts

Sample type

Plasma, frozen

Turnaround

2–4 business days

Fasting

No Fasting Required

Doctor’s order included

Licensed physician review and requisition included with every test.

Amino Acid Profile, Quantitative, Plasma (36 Biomarkers)

  • Metabolic Health
  • Nutrition & Micronutrients
  • Wellness & Preventive Health
    • Cpt Codes
    • 82139

    what is Amino Acid Profile, Quantitative, Plasma (36 Biomarkers) and why is it important?

    The Amino Acid Profile, Quantitative, Plasma test measures the levels of 36 different amino acids in the blood. This test is primarily used for the diagnosis and monitoring of inherited aminoacidurias, organic acidurias, and urea cycle defects. It may also serve as a follow-up confirmatory test for abnormal newborn screening results.

    Consider this test if you or your child exhibit symptoms potentially indicative of an inherited metabolic disorder, such as:

    • Unexplained developmental delays, feeding difficulties, lethargy, seizures, or unusual body odors.

    It is also recommended:

    • Following an abnormal newborn screening result suggestive of an amino acid disorder.
    • If you experience persistent fatigue, muscle weakness, unexplained weight changes, mood disturbances, concentration difficulties, or sleep issues that might be related to nutritional deficiencies or metabolic imbalances.
    • When a healthcare provider suspects issues with protein digestion, absorption, or the body's use of essential amino acids.

    This comprehensive Amino Acid Profile test can significantly benefit:

    • Individuals suspected of inherited metabolic disorders impacting amino acid processing, including aminoacidurias and urea cycle defects.
    • Newborns with abnormal initial screening results requiring further investigation for potential amino acid disorders.
    • Patients experiencing unexplained symptoms like chronic fatigue, digestive problems, mood fluctuations, or developmental delays, which could indicate an amino acid imbalance.
    • Those interested in assessing their nutritional status, particularly concerning protein intake, digestion, and the absorption of essential amino acids.
    • Individuals managing known conditions that may affect amino acid metabolism, for proactive monitoring and management.

    This Amino Acid Profile test is a crucial diagnostic tool commonly utilized for the identification and ongoing management of a range of metabolic conditions, including:

    • Inherited Aminoacidurias: Genetic disorders where the body cannot properly break down specific amino acids, leading to their accumulation and potentially toxic effects. Examples include Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), and Homocystinuria.
    • Organic Acidurias: A group of inherited metabolic disorders characterized by the accumulation of organic acids in the blood and urine, often resulting from defects in amino acid metabolism pathways.
    • Urea Cycle Disorders: Conditions where the body cannot effectively remove ammonia, a byproduct of protein metabolism, due to defects in the urea cycle enzymes. This can lead to dangerous levels of ammonia buildup.
    • Nutritional Deficiencies and Malabsorption: Identifying insufficient intake or impaired absorption of essential amino acids, which are critical for protein synthesis, tissue repair, and various bodily functions.
    • Liver and Kidney Dysfunction: Abnormal amino acid patterns can sometimes indicate underlying issues with liver or kidney function, as these organs play key roles in amino acid metabolism and excretion.
    • Neurotransmitter Imbalances: Amino acids are precursors to many neurotransmitters, and imbalances can contribute to neurological or psychiatric symptoms.

    Caution

    Test results must always be interpreted by a qualified healthcare provider, considering your complete medical history, symptoms, and other diagnostic findings. False-negative results can occur, particularly with mild or intermittent disorder variants, or when clinical conditions or dietary treatments influence the amino acid profile. Results should always be viewed within the broader context of your overall clinical presentation and alongside other relevant laboratory tests.

    Frequently Ordered Together

    How It Works?

    1
    Add Your Test to Cart and Check out

    once Test Order is received, Our physicians will review your request and email you the easy-to-follow requisition form.

    2
    Locate and Visit Your Nearest Laboratory

    Find the closest partner location—most are within 2–3 miles—and drop by for a quick, no‑appointment blood draw.

    3
    Get your Results Online

    Once your sample is processed, we’ll send your report straight to your inbox within 1–3 business days. Just click the link to view your results anytime.

    4
    Book a Optional Consult

    Have Questions about results? Book a phone or video visit with one of our doctors. They’ll walk you through your report, explain any findings, and recommend next steps