Gamma Globin (HBG1 and HBG2) Sequencing
Also known as: HBG FGS
Use
The test is used to assess for gamma globin gene variants that may result in various hematologic conditions in neonates, such as hemolytic anemia, cyanosis, or methemoglobinemia. It is also utilized to diagnose nondeletional hereditary persistence of fetal hemoglobin (HPFH) in individuals presenting with elevated fetal hemoglobin levels and characterizes abnormal hemoglobins identified by electrophoresis suspected to represent gamma chain variants.
Special Instructions
Informed consent for genetic testing is required, particularly for patients from NY. The test requires careful coordination, ensuring all necessary forms, such as the Patient History for Hemoglobinopathy/Thalassemia Testing, are submitted with the sample.
Limitations
The test may yield diagnostic errors due to rare sequence variations or repeat element insertions. It does not detect large deletions or duplications, distal regulatory region variants, deep intronic variants, and hybrid gene events. Analytical sensitivity and specificity are reported as 99%, yet clinical sensitivity is unknown because gamma globin variants are rare causes of the conditions screened.
New York Approved
Methodology
NGS
Biomarkers
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 (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B)
Storage Instructions
Refrigerated
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week |
| Refrigerated | 1 month |
| Frozen | Unacceptable |
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