Invitae Congenital Dyserythropoietic Anemia (CDA) Panel
Use
The Invitae Congenital Dyserythropoietic Anemia (CDA) Panel is designed to analyze genes associated with congenital dyserythropoietic anemia, sideroblastic anemia, GATA1-related cytopenia, and Majeed syndrome. These conditions are known for causing ineffective erythropoiesis and morphological abnormalities of erythroblasts, leading to anemia of varying severity. This panel provides a comprehensive evaluation of relevant genes for patients presenting with these hematological conditions.
Special Instructions
This test analyzes full-gene sequencing and deletion/duplication using next-generation sequencing. It covers clinically important regions, coding exons, and adjacent intronic sequences of the genes involved. Limitations include undetectable structural rearrangements and some single-exon copy number events which may not be analyzed. Any non-analyzed variants will be listed in the report. Contact client services for queries.
Limitations
Variants located in promoter, non-coding exons, and other non-coding regions are typically not covered. The test may have limitations in detecting large insertions, complex structural rearrangements, and precise variant details like mosaicism. Instances of bone marrow transplant, circulating neoplasm, or recent transfusion may cause analysed DNA to not fully reflect the patient's genome.
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)