Niemann-Pick Type A (SMPD1), 4 Variants

Casandra

Casandra Test Code AR94259Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 0051458CPT Code 81330

Niemann-Pick Type A (SMPD1), 4 Variants

Also known as: SMPD1

Clinical Use

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Use

This test is designed for carrier screening or diagnostic testing for Niemann-Pick disease type A, particularly among individuals of Ashkenazi Jewish descent. Niemann-Pick type A is a lysosomal storage disease associated with severe clinical symptoms such as hepatosplenomegaly, delayed physical and mental development, hypotonia, rigidity, intellectual disability, and often results in death by age 3. The test identifies four specific pathogenic variants within the SMPD1 gene, providing a clinical sensitivity of 90% in individuals of Ashkenazi Jewish descent.

Special Instructions

Not provided.

Limitations

The test is limited to detecting the four specified pathogenic variants in the SMPD1 gene: p.L304P (c.911T>C), p.F333Sfs (c.996delC), p.R498L (c.1493G>T), and p.R610del (c.1829_1831delGCC). Variants other than those specifically tested will not be detected. Additionally, diagnostic errors can potentially occur due to rare sequence variations outside of these known mutations. The test's performance characteristics are determined by ARUP Laboratories and conform with CLIA regulations but have not been cleared or approved by the FDA.

Test Details

New York Approved