Invitae Hereditary Hemolytic Anemia Panel
Use
The Invitae Hereditary Hemolytic Anemia Panel analyzes genes associated with various anemic conditions, which are characterized by anemia, abnormal red blood cell shape or quantity, jaundice, hematuria, iron overload, lymphadenopathy, hepatosplenomegaly, and gallstones. It covers congenital dyserythropoietic anemia, red blood cell enzymopathies, membrane disorders, complement mediated hemolytic anemia, erythrocytosis, methemoglobinemia, and heme oxygenase deficiency.
Special Instructions
The Invitae laboratory conforms to CLIA and CAP standards. The test employs next-generation sequencing technology covering clinically important regions of each gene, including coding exons and adjacent sequences. In rare cases, external factors such as marrow transplants might affect genomic DNA analysis outcomes.
Limitations
Analytical sensitivity and specificity are above 99% for SNVs and small indels, with reduced sensitivity for larger insertions. Variants in promoter, non-coding exons, and certain complex regions are not covered. Structural rearrangements and mosaicism may be undetectable. Single-exon copy number events might not be analyzed due to sequence properties.
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)
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