NeuroSURE® Metabolites: Aromatic L-amino Acid Decarboxylase Enzyme Analysis (Plasma)

CPT: 82542
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Synonyms

  • AADC

Special Instructions

This assay is not currently available in New York state.


Expected Turnaround Time

14 - 21 days


Specimen Requirements


Specimen

Plasma (EDTA), frozen


Volume

1 mL


Container

Lavender-top (EDTA) tube, green-top (sodium heparin) tube


Storage Instructions

Freeze ASAP after collection at -80°C; ship within 24 hours.


Stability Requirements

Room temperature: Unstable

Refrigerated: Unstable

Frozen: Indefinitely


Causes for Rejection

Incorrect sample type received, sample received thawed; hemolyzed sample


Test Details


Use

Aromatic L-amino acid Decarboxylase Enzyme Analysis (ENZ01) is used for the diagnosis of Aromatic L-amino acid decarboxylase (AADC) deficiency. Aromatic Lamino acid Decarboxylase Enzyme Analysis (ENZ01) may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing). AADC deficiency is a rare autosomal recessive disorder of neurotransmitter synthesis. Clinical manifestations include severe floppiness, oculogyric crises, athetoid movement, prominent startle response, tongue thrusting, ptosis, paroxysmal diaphoresis, nasal congestion, diarrhea, irritability and sleep disorders. L-dopa is used to treat several childhood-onset monoamine neurotransmitter disorders where dopamine deficiency results from either impaired dopamine or pterin synthesis, with the aim of increasing central dopamine levels. Knowledge and understanding of the specific neurotransmitter disorder being treated is paramount, as L-dopa is not indicated in all monoamine neurotransmitter disorders. It is considered inappropriate for the vast majority of aromatic l-amino acid decarboxylase (AADC) deficiency patients and not used in dopamine transporter deficiency syndrome (DTDS).


Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Ezymology, High-pressure liquid chromatography (HPLC), Electrochemistry


LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
630288 AADC Enzyme Analysis Plasma 630289 Result 14703-3
630288 AADC Enzyme Analysis Plasma 630290 Interpretation 56850-1
630288 AADC Enzyme Analysis Plasma 630869 PDF 80563-0

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