Use

This test is appropriate as part of the genetic evaluation for individuals with intellectual disability and/or autism of non‐specific etiology. It is also suitable for those with a known family history of fragile X syndrome or other FMR1‑related disorders, in which case a simpler “Fragile X With Reflex” test (without chromosome analysis) may be more appropriate. The test provides both fragile X FMR1 repeat analysis (with reflex methylation PCR if CGG repeats ≥85) and chromosome analysis (karyotype) to detect chromosomal abnormalities such as trisomies, sex chromosome abnormalities, translocations, inversions, marker chromosomes, and mosaicism above ~14 %.