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Diagnosis of patients with clinical features suggestive of hereditary sensory and autonomic neuropathy, type I caused by variants in SPTLC1 and SPTLC2
Monitoring of patients with hereditary sensory and autonomic neuropathy, type I caused by variants in SPTLC1 and SPTLC2
Deoxysphingolipids (dSLs) are elevated in patients with hereditary sensory and autonomic neuropathy type I (HSAN1) due to variants in SPTLC1 and SPTLC2, and are useful to support a diagnosis of HSAN1.
Elevations in dSLs may also be seen in patients with order disorders including type 2 diabetes, metabolic syndrome, mitochondrial disease, glycogen storage disease type I, and possibly disorders of serine biosynthesis.
Additional testing is required to determine the specific cause of elevated dSLs.
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)