Fragile X Syndrome, Diagnostic-994
Test info
Fragile X-associated primary ovarian insufficiency (FXPOI)
Fragile X-associated tremor and ataxia syndrome (FXTAS)
FMR1
This test is used for diagnostic testing for unexplained intellectual disabilities, developmental delay, or autism; women with primary ovarian insufficiency or failure, premature menopause, or infertility associated with elevated FSH levels before the age of 40 with no known cause; individuals with late onset intention tremor and/or cerebellar ataxia of unknown origin; and FMR1.
Specimen
Immediately following collection, mix by inverting 8 - 10 times to prevent clotting
Do not spin
Lavender (EDTA), 4mL x 3
or
Lavender (EDTA), 10mL
Yellow ACD (A or B)
Yellow ACD (A or B)
Molecular Medicare billing request
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.
Ambient (preferred) - 14 days
Refrigerated - 30 days
Frozen - NO
Frozen or hemolyzed specimens
Performance
In some cases, additional time may be required for confirmatory or reflex tests.
Polymerase chain reaction (PCR) followed by capillary electrophoresis, methylation PCR analysis and reflex to AGG interruption analysis when appropriate
Clinical and Interpretive info
See report
Billing
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.