Disorders of Copper Metabolism Panel
Use
This test is designed for individuals who present with clinical symptoms or are suspected of having a disorder related to abnormal copper metabolism. These conditions often manifest through irregularities in copper and ceruloplasmin serum concentrations. By evaluating specific genes associated with copper metabolism, this test aids in confirming such diagnoses and assists in guiding precise treatment plans.
Special Instructions
Be sure to provide a thorough clinical history and any available family medical data, as these are crucial for an accurate assessment of genetic variants. The ordering process requires completion of either the online form or the provided test requisition PDF, alongside labeled specimen submissions.
Limitations
The test uses NGS with CNV on either an exome or genome platform, which may not detect all possible variants of disorders related to copper metabolism. Additionally, the interpretation of CNVs might be limited in regions with high complexity. False negatives may occur due to the limitations of NGS itself, such as coverage issues or the presence of indels in complex regions that are difficult to map and analyze accurately.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided