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Test ID: FXS    
Fragile X Syndrome, Molecular Analysis, Varies

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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 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 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.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Fragile X Syndrome, Mol. Analysis

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

FMR1
Fragile X tremor ataxia syndrome
FXTAS
Martin-Bell Syndrome
FXPB
POF
Premature ovarian failure
POI
Premature ovarian insufficiency