Unit Code 85316:
Bloom Syndrome, Mutation Analysis, 2281del6/ins7
Useful For
Suggests clinical disorders or settings where the test may be helpful
Carrier testing for individuals who have a family history of the
Bloom syndrome
Diagnosing Bloom syndrome in individuals of Ashkenazi
Jewish descent
Prenatal diagnosis for at-risk pregnancies
Reflex Tests
Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Unit Code | Reporting Name | Available Separately | Always Performed |
| 80333 | Fibroblast Culture for Genetic Test | Yes | No |
| 80334 | Amniotic Fluid Culture/Genetic Test | Yes | No |
Testing Algorithm
Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
Note: This testing algorithm only applies to prenatal
testing.
If amniotic fluid (non-confluent cultured cells) is received, amniotic
fluid culture/genetic test will be added and charged separately. If
chorionic villus specimen (non-confluent cultured cells) is received,
fibroblast culture for genetic test will be added and charged
separately.
Special Instructions and Forms
Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name
A short description of the method used to perform the test
85316: Polymerase Chain Reaction (PCR) with Luminex
Technology
(PCR is utilized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
80333, 80334: Cell Culture
Reporting Name
A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Bloom Syndrome, Mutation Analysis
Ordering Mnemonic
An alternate Mayo code (to the Unit Code) for a test
BLM
Aliases
Lists additional common names for a test, as an aid in searching
Soft-BLM


