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FRAGILE X SYNDROME RFLX

Test Code
FRAGXA
 
This test may reflex to additional tests depending upon the results of this test. An additional fee will be added if the reflex test is necessary.
SynonymsFRAG X; Fragile X with Reflex
SPECIMEN REQUIREMENTS
Container TypeLavender top tube (EDTA)
Supply Item Numberpicture7359
Specimen TypeWhole blood
Preferred Volume10 mL
Store and TransportAmbient (room temperature)
StabilityRoom Temp 1 week  Frozen (-20 °C) Unacceptable  
Unacceptable ConditionFrozen specimen; hemolysis; quantity not sufficient for analysis
Alternate SpecimensYellow top-tube (ACD solution A or B)
CPT Codes81243, (ZBO62)
Interface Order Code99999.Z60
Billing CodeFRAGXA.LCA
Test ScheduleMon-Fri
Turnaround Time6-14 days
MethodPolymerase Chain Reaction/Capillary Electrophoresis
Reference Ranges
Fragile X PCR
Fragile X SB
NotesUse: Carrier screening for individuals who are pregnant or considering pregnancy and who have no family or personal history of fragile X syndrome, fragile X-related disorders (primary ovarian insufficiency, or late-onset ataxia) or unexplained intellectual disabilities, developmental delay, or autism.

Additional Information: Fragile X syndrome is the leading cause of inherited intellectual disability, affecting approximately 1 in 4,000 males and 1 in 8,000 females. It is found in all ethnic groups, and can occur in families with no history of intellectual disability. Women may decide to have testing to find out if they are carriers, and therefore are at risk of having a child with fragile X syndrome. The carrier frequency in women is approximately 1 in 260. Fragile X test is commonly used for individuals at higher risk, including those that may be symptomatic or have a family history suggestive of fragile X syndrome.
Reflex Testing
Reflex ConditionReflex Test NameReflex CPT codesReflex Billing codes
If Fragile X, PCR result is positiveFragile X Southern Blot81244FRAGXR

Interface Codes
typeorder codetest descriptionresult coderesult descriptionunitsdecimal placesloinc code
o511919X Sense, Fragile X, Reflex
o99999.Z60
r99999.Z6099999.Z56Fragile X results  36913-2

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