Hemoglobin DNA Test – Hb, S,C,E,D or O-Arab,
Common Beta-Thalassemia Mutation, Beta-Globin Gene Sequencing
Laboratory Fee Schedule
Procedure #: BAN0114Z, BAM0108Z, BAH0080Z
CPT: 81401, 81404
Hemoglobin DNA Test – Hb, S,C,E,D or O-Arab,
Common Beta-Thalassemia Mutation, Beta-Globin Gene SequencingSynonym(s): | Hemoglobin DNA |
Requisition Form | G-1B |
Test Description | Hemoglobin S, C, D, E, and O-Arab, two β-thalassemia mutations (-29, A→G and –88, C→T), Beta-Globin Gene sequencing |
Pre-Approval Needed | N/A |
Supplemental Information Required | N/A |
Supplemental Form(s) | N/A |
Performed on Specimens from (sources) | Human |
Sample/Specimen Type for Testing | - Dried filter paper blood spots
- EDTA anticoagulated (purple top tube) whole blood
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Minimum Volume/Size Required | - One ½ inch dried filter paper blood spot
- 1mL whole blood
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Storage/Preservation Prior to Shipping | Dried filter paper blood specimens - Allow card to dry thoroughly at room temperature in a horizontal position for at least 3 hours. Do NOT allow specimen to touch any surface.
- Keep specimen away from heat and direct sunlight.
- Cover dried specimen with attached flap.
Whole blood specimens
- Refrigerate whole blood samples until shipment.
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Transport Medium | EDTA acceptable for whole blood |
Specimen Labeling | Two patient-specific identifiers required (e.g., patient full name, date of birth, Medical record number) |
Shipping and Specimen Handling Requirements | Ship all specimens according to Dangerous Good Regulations, IATA, and/or CFR 49. Must include one completed G-1B form per specimen.
DRIED FILTER PAPER BLOOD SPECIMENS - U.S. Postal regulations require Double containment of dried blood filter paper specimens. Ensure specimens are thoroughly dried prior to placing in envelope.
- 1st containment: Use the attached wrap-around cover with printed universal biohazard symbol. Do not put biohazard labels on outside of envelope.
- 2nd containment: Place dried filter paper blood specimen in an envelope that is not hermetically sealed. Do not put specimens in plastic bags
- Ship as soon as possible; within 24hrs of collection.
- Avoid temperatures greater than 100°F.
WHOLE BLOOD SHIPPING REQUIREMENT
- Refrigerate sample until shipment.
- Whole blood specimens must be shipped overnight at room temperature or refrigerated and received within 7 days of collection.
- U.S. Postal regulations require Triple containment: See instructions on how to triple contain a specimen for shipping.
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Method | Allelic Discrimination, Sanger Sequencing |
Turn-around Time | Within 4 working days for Allelic Discrimination, within 9 working days for sequencing |
Interferences/Limitations | - Pathogenic intronic variants, large deletions/duplications, or whole gene deletions/duplications may not be identified by this methodology. Test results should not be used as a diagnostic test but should be interpreted in the context of clinical findings, family history, and other laboratory data
- Please refer to the disclaimer(s) on the individual laboratory report(s) and/or contact the laboratory for additional information.
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Common Causes for Rejection | - Use of expired specimen collection device
- Missing/invalid patient demographic information
- No date of collection provided
- Kit serial number on patient demographic form does not match the kit serial number on the specimen filter paper
- Specimen too old
- Insufficient blood
- Incomplete saturation, contamination, or caked, clotted or layered blood.
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Additional Information | Additional information for specimen collection:
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