Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
Use
This consultative study is designed for the comprehensive evaluation of microcytosis and detection of almost all known hemoglobin disorders in an economical manner. The test is useful for classifying compound combinations of hemoglobinopathies, thalassemias, hereditary persistence of fetal hemoglobin, and other complex hemoglobin disorders. It helps in evaluating conditions such as sickling disorders, erythrocytosis, cyanosis/hypoxia, long-standing or familial anemia, and cases with autosomal recessive or dominant inheritance patterns of hemoglobinopathies.
Special Instructions
Not provided.
Limitations
Some hemoglobin variants and thalassemia forms might not be detected if DNA probe studies are used as they may not reveal all potential alterations. Molecular confirmation is subject to the availability of adequate sample volume; MLPA requires at least 2 mL in addition to other testing volume needs. The test might not identify all alpha thalassemia types when deletions are involved.
New York Approved
Methodology
Other
Biomarkers
LOINC Codes
- 20572-4 - Hgb A MFr Bld Elph
- 32682-7 - Hgb F MFr Bld Elph
- 4552-6 - Hgb A2 MFr Bld Elph
- 24469-9 - Hgb XXX MFr Bld Elph
- 78748-1 - Hgb Fract Bld CE-Imp
- 20567-4 - Ferritin SerPl IA-mCnc
- 13514-5 - Hgb Fract Bld Elph-Imp
- 18771-6 - Provider signing name
Result Turnaround Time
2-25 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
15 mL
Minimum Volume
2.5 mL
Container
Lavender top (EDTA)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |