In simple words: This test analyzes the SMPD1 gene for changes (mutations) that cause Niemann-Pick disease. This disease prevents the body from breaking down fats, which can build up and harm cells, especially in the brain, liver, and spleen.

This code represents a gene-specific molecular pathology procedure for the analysis of the SMPD1 gene, focusing on common variants such as R496L, L302P, and fsP330. This test is often used to confirm a diagnosis of Niemann-Pick disease, types A or B, or to determine carrier status, particularly in individuals of Ashkenazi Jewish descent. The procedure includes all analytical steps involved in the test, from cell lysis and nucleic acid extraction to amplification and detection. It assesses for the presence of specific gene variants that are associated with compromised gene function and may or may not test for additional uncommon variants.

Example 1: A 6-month-old infant presents with an enlarged spleen and liver, failure to thrive, and a cherry-red spot on the eye. The physician orders this test to confirm a suspected diagnosis of Niemann-Pick disease type A., A couple of Ashkenazi Jewish descent are planning a family and undergo carrier screening for genetic diseases common in their ethnicity. This test is ordered as part of the screening panel to assess for carrier status of Niemann-Pick disease., A 10-year-old child presents with an enlarged spleen and liver, frequent lung infections, and short stature. The physician orders this test to confirm a suspected diagnosis of Niemann-Pick disease type B.

Documentation should include the patient's medical history, family history, and the reason for testing. Any relevant clinical findings, such as an enlarged spleen and liver, should also be documented. The ordering physician's interpretation and report should be included if applicable.