Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: FXS
Fragile X Syndrome, Molecular Analysis, Varies
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Confirmation of a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene
Determination of carrier status for individuals with a family history of fragile X syndrome or X-linked intellectual disability
Prenatal diagnosis of fragile X syndrome when there is a documented FMR1 expansion in the family
Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
| CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MATCC | Maternal Cell Contamination, B | Yes | No |
| FUFXS | Fragile X, Follow up Analysis | No | No |
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, fragile X follow-up analysis testing will be performed and charged dependent upon the reported gender of the individual and on the size of the CGG repeat found by PCR analysis.
When sending in prenatal specimens: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
Special Instructions Library of PDFs including pertinent information and forms related to the test
Method Name A short description of the method used to perform the test
Polymerase Chain Reaction (PCR)-Based Assays
NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
Fragile X tremor ataxia syndrome
FXTAS
Martin-Bell Syndrome
FXPB
POF
Premature ovarian failure
POI
Premature ovarian insufficiency