In simple words: The lab tests a sample (like blood) to look for extra or missing pieces of genetic material in many genes. This helps find problems that cause intellectual disabilities linked to the X chromosome. It's especially useful if other tests haven't found the cause.

This procedure involves the analysis of a patient specimen (e.g., blood) to detect duplication and deletion mutations in at least 60 genes, encompassing the 15 genes specifically listed in the code descriptor.These 15 genes are associated with X-linked intellectual disability disorders (XLID).Methods such as Multiplex Ligation-dependent Probe Amplification (MLPA) might be used to detect these mutations, which are not always identified by standard DNA sequencing. While not limited to XLID, this test is often ordered for patients suspected of having XLID who have previously tested negative using full gene sequencing (CPT code 81470).

Example 1: A male patient presents with intellectual disability and negative results from previous genetic testing.The physician orders this test to detect potential duplication/deletion mutations in genes associated with X-linked intellectual disability., A female patient with a family history of X-linked intellectual disability undergoes this test to identify potential carrier status or underlying genetic causes of her symptoms., A child with unexplained developmental delays undergoes comprehensive genetic testing, including this panel, to identify potential genetic causes of their condition.

Patient demographics, clinical history (including family history and symptoms of intellectual disability), results of prior genetic testing (if any), and the specimen used for the analysis.

** This test is commonly used in conjunction with full gene sequencing (CPT 81470) for a comprehensive genetic evaluation for X-linked intellectual disability.Results should be interpreted by a qualified medical geneticist.