In simple words: This test analyzes a specific gene for changes (variants) that are already known to exist in your family. This is often done to see if you or other family members have inherited the same variant.

This code pertains to the analysis of the CACNA1A gene for specific, known familial variants. This gene is associated with conditions such as spinocerebellar ataxia, and the test is typically performed to confirm the presence of a previously identified variant within a family.

Example 1: A patient has a family history of spinocerebellar ataxia type 6, and genetic testing has identified a specific variant in the CACNA1A gene. This test is used to determine if other family members also carry this variant., A pregnant woman has a family history of Episodic Ataxia type 2, a condition also associated with CACNA1A gene. A specific variant is known in her family, and this test is performed to ascertain if she carries the variant to assess potential risks to her child., A patient presents with symptoms suggestive of a neurological disorder, and their family history reveals a known CACNA1A variant. This targeted test helps determine if the patient's symptoms are linked to this known familial variant.

Documentation should include a detailed family history noting the specific CACNA1A variant being tested, the relationship of the patient to the individual in whom the variant was initially identified, and the reason for testing (e.g., diagnostic confirmation, carrier screening).

** The distinction between 81186 and other CACNA1A testing codes is crucial for accurate billing. This test does not identify new variants; it only checks for the presence of a specific, pre-identified variant.