Amino Acids Confirmatory Panel (40 Disorders): Price, Purpose, Range & Reports

The Amino Acids Confirmatory Panel (40 Disorder) is a highly specialised quantitative test used to diagnose and confirm a broad spectrum of Inborn Errors of Metabolism (IEMs), particularly those affecting amino acid utilisation. This panel measures the precise concentrations of over 40 clinically relevant amino acids (including essential, non-essential, and intermediary metabolites) in the plasma or urine. It is considered the gold standard for confirming positive results from newborn screening tests (NBS) or for diagnosing symptomatic patients of any age with suspected aminoacidopathies (disorders like Phenylketonuria, Maple Syrup Urine Disease, or Urea Cycle Disorders). Accurate measurement of these levels is crucial for rapid intervention, which can prevent severe, irreversible neurological damage and developmental delays.

What is the Amino Acids Confirmatory Panel?

The Amino Acids Confirmatory Panel is a laboratory test, most often performed using tandem mass spectrometry (LC-MS/MS), which provides an exact numerical value for the concentration of various amino acids in the blood plasma or urine.

Amino acids are the fundamental building blocks of proteins and play critical roles in metabolism, energy production, and neurotransmitter function. When a genetic defect (an IEM) prevents the body from properly breaking down or processing one or more amino acids, toxic levels can accumulate, leading to severe health consequences.

This panel goes beyond simple qualitative screening. It:

• Quantifies Levels: Provides specific, measurable concentrations for over 40 compounds.
• Confirms Diagnosis: It is typically ordered by a geneticist or metabolic specialist to confirm the presence and severity of a suspected IEM.
• Monitors Treatment: Used repeatedly to track whether dietary restrictions or specialised medications are successfully keeping toxic amino acid levels within a safe, therapeutic range.

What is the Amino Acids Confirmatory Panel Price?

The Amino Acids Confirmatory Panel price reflects the advanced technology and highly specialised expertise required for this type of metabolic testing. The cost is generally high compared to routine blood work due to the following factors:

• Advanced Analytical Technology: The use of Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) is essential for simultaneously separating and quantifying dozens of metabolites accurately.
• Specialised Reagents and Controls: The complex array of standards and quality control materials needed for over 40 analytes drives up operating costs.
• Strict Sample Handling: Samples (often plasma) require rigorous handling, including rapid processing, centrifugation, and freezing (cryopreservation), to ensure the stability of the labile metabolites.
• Location: Prices may differ slightly between cities due to regional operating costs and logistics.

For the most accurate and current Amino Acids Confirmatory Panel price near me, you should check the Apollo 24|7 website or mobile application, as prices are dependent on the specific city and the logistics of specialised sample transport.

What is the Purpose of the Amino Acids Confirmatory Panel Test?

The primary purpose of this comprehensive panel is to confirm the presence of an Inborn Error of Metabolism related to amino acid pathways.

Doctors recommend the Amino Acids Confirmatory Panel for the following key objectives:

• Confirming Positive Newborn Screens (NBS): To provide a definitive diagnosis after an initial screening test indicates a high probability of an aminoacidopathy (e.g., high Phenylalanine in a heel prick test).
• Diagnosing Symptomatic Patients: To identify the cause of unexplained symptoms in infants, children, or adults, such as developmental delay, intellectual disability, seizures, acute encephalopathy, or recurrent vomiting and lethargy.
• Differential Diagnosis: To help distinguish between various IEMs that share overlapping clinical symptoms (e.g., distinguishing between different disorders within the urea cycle).
• Therapeutic Monitoring: To guide and adjust the treatment regimen (often involving highly restricted diets or supplements) for patients diagnosed with an IEM, ensuring toxic amino acid levels remain safe.

Who Should Get the Amino Acids Confirmatory Panel Test Done?

This test is not a routine screening test. It is a diagnostic tool primarily ordered by paediatricians, neurologists, or metabolic specialists.

You may be advised to undergo this panel if you or your child falls into one of these categories:

• Positive Newborn Screening Result: Any infant whose initial metabolic screening test indicated an abnormality in amino acid levels (e.g., for PKU or MSUD).
• Unexplained Neurological Symptoms: Patients presenting with unexplained developmental regression, microcephaly, persistent vomiting, coma, or seizures, particularly during periods of metabolic stress (fasting or illness).
• Acute Metabolic Crisis: Infants or children experiencing acute symptoms of lethargy, hyperammonemia, or severe acidosis of unknown aetiology.
• Family History: Individuals with a known or suspected family history of an unclassified IEM.

Components of the Amino Acids Confirmatory Panel

The panel quantitatively measures over 40 amino acids and related compounds. The specific profile helps pinpoint the exact defective metabolic pathway.

Key amino acids included in the panel are (but are not limited to):

Understanding the Amino Acids Confirmatory Panel Report

Results for this panel are provided as specific numerical concentrations (e.g., micromoles per litre, umol/L) for each amino acid measured. Interpretation of the report requires expert knowledge, as the significance lies in the pattern of elevation or deficiency.

Typical Reference Range

Reference ranges are highly dynamic and vary significantly based on the patient's age (especially between neonates, children, and adults) and the specific laboratory methodology. A typical range for a specific amino acid might be expressed as:
Amino Acid X Concentration: 50 to 150 micromoles per litre (umol/L)

What Abnormal Results May Indicate