Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies
Use
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital dyserythropoietic anemia. This test is useful for comprehensive testing for patients where previous targeted gene variant analyses were negative. It aids in establishing a diagnosis of a hereditary hemolytic anemia or related disorder, thus allowing for appropriate management and surveillance of disease features based on the gene involved.
Special Instructions
New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The test is best interpreted in the context of protein studies and peripheral blood findings. Prior to sending this test, Coombs testing should be negative, laboratory testing should indicate a hemolytic process and consider evaluating a peripheral blood smear.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur. Depth of coverage may be variable for some target regions, and assay performance below the minimum acceptable criteria or for failed regions will be noted. The test is not designed to detect low levels of mosaicism or to differentiate between somatic and germline variants. Regions of genes with high guanine-cytosine (GC) content and repetitive sequences may not be effectively evaluated by sequencing or deletion and duplication analysis.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 107541-5
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 59465-5
- 99622-3
- 48767-8
- 85069-3
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA); Acceptable: Yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send the whole blood specimen in the original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |