Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel
Use
The Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel analyzes genes associated with red blood cell enzymopathies and red blood cell membrane disorders. These conditions are characterized by symptoms such as anemia, abnormal red blood cell shape or quantity, jaundice, hematuria, iron overload, lymphadenopathy, hepatosplenomegaly, and gallstones. This panel allows efficient evaluation of many relevant genes for a single clinical indication, making it suitable for individuals with hemolytic anemia or related symptoms.
Special Instructions
This test is customizable by removing specific genes from the panel. Preferred specimen is 3mL whole blood in a purple-top EDTA tube. Alternate specimens such as saliva, buccal swab, and gDNA are also accepted.
Limitations
This assay covers clinically important regions of each gene, including coding exons and select non-coding variants. Certain structural rearrangements, mosaicism, and complex sequences may not be detected. Changes in promoter, non-coding exons, and other non-coding regions are generally not covered unless explicitly stated. Analytical limitations will be reported.
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)