Alpha Hemoglobin Sequencing, Relative
General Information
Lab Name
Alpha Hemoglobin Seq, Relative
Lab Code
HAREL
Epic Name
Alpha Hemoglobin Sequencing, Relative
Description
For further information about this test, see Alpha Hemoglobin DNA Sequence [HASEQ].
Synonyms
Alpha Thalassemia, Constant Spring, Globin, Hemoglobin Bart's, Hemoglobin H, Hemoglobinopathy, Hydrops fetalis
Components
| Code | Name |
|---|---|
| HARRES | Hb alpha Results |
| HARCI | Hb alpha Clin Info |
| HARINT | Hb alpha Interpretation |
| HARMTH | Hb alpha Methods and Info |
Interpretation
Method
DNA sequencing of both strands of the segment of either the alpha1 (HBA1) or alpha 2 globin (HBA2) gene that carries a specific mutation previously identified in a family member.
Reference Range
See individual components
Ordering & Collection
Specimen Type
Collection
Acceptable:
- Whole blood:5 mL lavender top (EDTA) tube or yellow (ACD) top tube or 2 mL microtainer lavender top tube
- Extracted DNA from blood, chorionic villi, and amniocytes: 500 ng (concentration >10 ng/uL)
- Cultured amniocytes/chorionic villi: MCC is required for testing fetal samples. See MCC OLTG.
- Also acceptable, but requires the Genetics Director's approval and a backup culture. Direct chorionic villi and/or TISSUE: Send 20mg of tissue in a sterile tube or RPMI culture media
*NOTE: If a fetal sample (cultured amniocytes or chorionic villi) was received, add MCC to the order. Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide, MCC for ordering and specimen requirements). See Special Instructions.
Unacceptable: Heparin green top tubes, buccal swab
Forms & Requisitions
Handling Instructions
SPS specimen handling:
Whole blood sample: store in the refrigerator
Cultured amniocytes/chorionic villi: store at room temperature. Call the Genetics lab upon receipt (206)598-7021.
Extracted DNA: store in the refrigerator
Quantity
requested: Entire specimen
minimum: Blood: 1 mL. If volume is less than 1mL, do not cancel. Send to Genetics lab. Confluent cultured cells: One (1) T25 flask. Extracted DNA: 250 ng
Processing
If fetal tissue (cultured amniocytes or chorionic villi) was received for prenatal testing, consultation with the laboratory is required. Please notify the Genetics lab about prenatal studies via email at geneticshelp@uw.edu or call 206-598-7021.
For clients outside of UW, please include the most recent CBC and Hb electrophoresis result/s (if available), and/or any relevant clinical history.
Performance
LIS Dept Code
Genetics (GEN)
Performing Location(s)
| UW-MT |
Genetics
Attention: Genetics Lab Tel: 206-598–6429 M–F (7:30 AM–4:00 PM) Tel (EXOME only): 206-543-0459 |
Faculty |
|---|
Frequency
Performed weekly. Results within 3 weeks.
Available STAT?
No