DNA Sequencing • Polymerase Chain Reaction (PCR)
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Beta-Thalassemia Mutation Analysis
Specimen requirements | |
|---|---|
| Patient preparation | None Specified |
| Preferred specimen(s) | 5 mL whole blood collected in a EDTA (lavender-top), or ACD (yellow-top) tube |
| Alternative specimen(s) | Sodium heparin (green-top) tube |
| Minimum volume | 3 mL |
| Collection instructions | Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship ambient immediately. Glass tubes should not be shipped frozen. |
| Transport temperature | Room temperature |
| Specimen stability | Room temperature: 30 days Refrigerated: 30 days Frozen: 30 days |
The Result and LOINC® information listed below should not be used for electronic interface maintenance with Quest Diagnostics. Please contact the Quest Diagnostics Connectivity Help Desk for more information at 800-697-9302.
NOTE: The codes listed in the table are not orderable Test Codes
Result code | Result name | LOINC code | Component name |
|---|---|---|---|
| 85998155 | Beta-Globin DNA Mutations | 50996-8 | HBB gene targeted mutation analysis |
| 86007537 | CLINCAL INDICATION: | 55752-0 | Clinical information |
| 86007538 | Referring Physician: | 46608-6 | Primary referring physician ID |
| 86007542 | Physicians Phone number: | 81230-5 | Referring physician phone number |
| 86007572 | Ethnicity | 32624-9 | Race |
| Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
| 33608 Ortega Highway |
| San Juan Capistrano, CA 92675-2042 |
Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.
*The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.
The tests listed by specialty and category are a select group of tests offered. For a complete list of Quest Diagnostics tests, please adjust the filter options chosen, or refer to our Directory of Services.