Fragile X Syndrome, Diagnostic

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

To test fetal specimens, including cordblood, order test code 481718, Fragile X Syndrome, Fetal Analysis

This test includes the following gene: 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 over 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.

Hunter JE, Berry-Kravis H, et al., FMR1 Disorders. 1998 Jun16 (Updated 2019 Nov 21). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®[Internet]. PMID: 20301558

Spector E, Behlmann A, Kronquist K, et al. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 23, 799 (2021). PMID: 33795824