Test ID: FXPB
Fragile X Syndrome, Molecular Analysis
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Determination of carrier status for individuals with a family history of fragile X syndrome or X-linked mental retardation
Confirmation of a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian failure caused by expansions in the FMR1 gene
Prenatal diagnosis of fragile X syndrome when there is a documented FMR1 expansion in the family
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)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
| AFC | Amniotic Fluid Culture/Genetic Test | Yes | No |
| FXFU | Fragile X, Follow Up Analysis | No | No |
| MCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm Delineates situation(s) 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 on the size of the CAG repeat found by PCR analysis.
For prenatal specimens only: 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. For any prenatal specimen that is received, maternal cell contamination studies will be added.
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
Polymerase Chain Reaction (PCR)-Based Assays
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Fragile X tremor ataxia syndrome
FXTAS
Martin-Bell Syndrome
POF
Premature ovarian failure
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