Hereditary Hemolytic Anemia Panel Sequencing
Also known as: HHA SEQ
Use
The Hereditary Hemolytic Anemia Panel Sequencing is used to determine etiology, elicit inheritance patterns, and assess recurrence risk in individuals with unexplained hemolytic anemia, unexplained hyperbilirubinemia (neonates), and a family history of unexplained hemolytic anemia. Hereditary Hemolytic Anemia (HHA) comprises a group of disorders characterized by premature red blood cell (RBC) destruction and anemia caused by intrinsic RBC defects, including RBC membrane defects, RBC enzymopathies, and hemoglobinopathies.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a heritable form of hemolytic anemia. This test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. Alpha- and beta-globin clusters' genes are not analyzed. Regulatory region and deep intronic variants are not identified. Deletions/duplications/insertions of any size may not be detected. There may be reduced sensitivity due to the presence of pseudogenes, repetitive, or homologous regions. The test may not detect low-level somatic variants. Interpretation may be impacted by allogeneic stem cell transplantation or recent blood transfusion. Non-coding transcripts were not analyzed.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 35474-6 - Gene XXX Mut Anl Bld/T
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Collection Instructions
Collect in Lavender (EDTA) or yellow (ACD solution A or B).
Storage Instructions
Refrigerated.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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