Test Details
Methodology
DNA sequencing
Result Turnaround Time
21 - 28 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Test Includes
This test looks for presence or absence of familial mutations. The number of amplicons tested depends on the number and location of the familial mutations.
Special Instructions
This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order β-Thalassemia: HBB (Full Gene Sequencing) [252823].
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.
Limitations
This method does not reliably detect mosaic variants, deep intronic variants, large deletions, large duplications, inversions or other rearrangements. Assay results may be affected by the presence of homopolymer repeats or by allele-dropout due to sequence polymorphisms in primer binding sites. This assay does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Specimen Requirements
Specimen
Whole blood or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab); DNA is also accepted. (Call 800-345-4363 for DNA collection information.)
Volume
2 mL whole blood or 4 buccal swabs
Minimum Volume
2 mL whole blood or 2 buccal swabs
Container
Lavender-top (EDTA) tube or LabCorp buccal swab kit
Collection Instructions
Ship overnight at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient foranalysis; improper container; one buccal swab; wet buccal swab
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 252827 | Beta Thalassemia: HBB Family | 21689-5 | 252212 | Routing | 21689-5 | |
| Order Code | 252827 | |||||
| Order Code Name | Beta Thalassemia: HBB Family | |||||
| Order Loinc | 21689-5 | |||||
| Result Code | 252212 | |||||
| Result Code Name | Routing | |||||
| UofM | ||||||
| Result LOINC | 21689-5 |