Fragile X Syndrome, Diagnostic

Whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

3 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes, or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

Whole blood: 14 days at room temperature or 30 days at 4°C

Buccal: 60 days at room temperature

Saliva: 60 days at room temperature

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.

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants, or repeat expansions. Variant classification and/or interpretation may change with time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Polymerase chain reaction (PCR) followed by capillary electrophoresis, methylation PCR analysis and reflex to AGG interruption analysis when appropriate