Casandra

Casandra Test Code BA81558Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 4901CPT Codes 82540, 82542, 82570, 83789, 83919, 84510, 82379, 84260, 84377, 84425, 84446, 84525, 84550, 84590, 81005, 82016, 82135, 82382, 83497, 84252, 83633, 84392, 84540, 84560, 84578, 84585, 84119, 84210, 84035, 82128, 82180, 82239, 82247, 82383, 84207, 82465, 82528, 82533, 82565, 82725, 82726, 82746, 82760, 82947, 82978, 83150, 83605, 83945, 82507

Global Metabolomic Assisted Pathway Screen (Global MAPS)®-Urine

Clinical Use

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Use

The Global Metabolomic Assisted Pathway Screen (Global MAPS)®-Urine is designed for individuals with undifferentiated phenotypes or equivocal molecular test results. This semi-quantitative screening detects biochemical abnormalities across various metabolic pathways, crucial for identifying potential metabolic disorders. It evaluates small molecules ranging from 75-1000 Da to assist in the diagnosis of metabolic disturbances related to compounds such as amino acids and organic acids. Exceptional cases include individuals with conditions like developmental delay or seizures, where metabolic pathways may be impaired. Results may indicate the need for subsequent targeted testing to confirm any abnormalities detected, supplementing existing diagnostic methods.

Special Instructions

The Global MAPS test requires a physician’s order accompanied by detailed clinical information for accurate interpretation. The results may be difficult to interpret in specific medical conditions, including severe liver or kidney impairment, multi-organ failure, or during certain treatment regimens. Prior consultation with a lab director in such cases is recommended to ensure accurate testing outcomes.

Limitations

Test results can be influenced by various factors, including severe organ dysfunction (liver or kidney failure), dialysis, and specific treatments like chemotherapy or special diets that may obscure the metabolic profile. Consequently, the interpretation of results can vary, and consultation with a specialist may be warranted to understand the reports better. The test is intended for screening and will not serve as a standalone diagnostic method, necessitating additional confirmatory testing to validate any detected metabolic anomalies. The methodology focuses on small molecule metabolism and is not designed to assess larger molecule metabolic disorders like mucopolysaccharidoses or similar conditions.

Test Details