FXS - Overview: Fragile X Syndrome, Molecular Analysis

Test Catalog

Test Name

Test ID: FXS    
Fragile X Syndrome, Molecular Analysis

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 tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo
FUFXSFragile X, Follow up AnalysisNoNo

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 on the size of the CGG repeat found by PCR analysis.


For prenatal specimens only: 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 and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to 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.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

Fragile X Syndrome, Mol. Analysis

Aliases Lists additional common names for a test, as an aid in searching

Fragile X tremor ataxia syndrome
Martin-Bell Syndrome
Premature ovarian failure