Invitae Copper Metabolism Disorders Panel
Use
The Invitae Copper Metabolism Disorders panel analyzes genes associated with copper transport diseases. This panel is suitable for individuals with symptoms of a copper transport disorder. It confirms diagnosis, guides treatment and management decisions, and provides genetic counseling. Identifying disease-causing variants offers accurate risk assessment and determines carrier status in relatives.
Special Instructions
Not provided.
Limitations
This NGS-based test covers clinically important regions of each gene and certain non-coding variants. Some variants like large rearrangements or those in complex architectures may not be detected. Sequence changes outside specified regions and certain details like mosaicism or phasing may not be resolved. Always consult the test definition for specific variant coverage information.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant