Test Details
Methodology
DNA sequencing
Result Turnaround Time
12 - 14 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 the 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 test 252867.
Specimen Requirements
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 252870 | B-Thal. HBBprenatal KnownMut | 21689-5 | 252871 | Routing | 21689-5 | |
| Order Code | 252870 | |||||
| Order Code Name | B-Thal. HBBprenatal KnownMut | |||||
| Order Loinc | 21689-5 | |||||
| Result Code | 252871 | |||||
| Result Code Name | Routing | |||||
| UofM | ||||||
| Result LOINC | 21689-5 |