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Test Catalog

Test ID: HSAN1    
Hereditary Sensory and Autonomic Neuropathy, Type I, Serum

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Hereditary Sensory Neuropathy I, S

Aliases Lists additional common names for a test, as an aid in searching

Hereditary sensory and autonomic neuropathy, type I
HSAN1
dSLs
deoxysphingolipids
deoxySLs
dSLds