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 (dSL) are elevated in patients with hereditary sensory and autonomic neuropathy type I (HSAN1) due to variants in SPTLC1 and SPTLC2, and measurement of dSL is useful to support a diagnosis of HSAN1.

 

Elevations in dSL may also be seen in patients with order disorders including type 2 diabetes mellitus, 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 dSL.

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

Specimen Type
Describes the specimen type validated for testing

Serum

Necessary Information

The following information is required for interpretation of results:

1. Patient's age

2. Reason for testing

3. Diabetic diagnosis

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Patient Preparation: Fasting 8 hours

Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 1 mL

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

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

0.5 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis OK
Gross lipemia Reject
Gross icterus OK

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Serum Frozen (preferred) 90 days
Refrigerated 24 hours

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 (dSL) are elevated in patients with hereditary sensory and autonomic neuropathy type I (HSAN1) due to variants in SPTLC1 and SPTLC2, and measurement of dSL is useful to support a diagnosis of HSAN1.

 

Elevations in dSL may also be seen in patients with order disorders including type 2 diabetes mellitus, 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 dSL.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Sphingolipids, a class of lipids derived from sphingosine, are essential components of plasma membranes and lipoproteins. They are synthesized from L-serine and palmitoyl-CoA by the enzyme serine palmitoyltransferase. Deoxysphingolipids (dSL) are atypical sphingolipids derived from the amino acids alanine or glycine instead of L-serine and cannot be degraded by normal catabolic pathways. Pathologically elevated dSL have been identified as potential biomarkers in a variety of conditions such as hereditary sensory and autonomic neuropathy type 1 (HSAN1), type 2 diabetes mellitus, metabolic syndrome, mitochondrial disease, glycogen storage disease type 1, and possibly disorders of serine biosynthesis.

 

Hereditary sensory and autonomic neuropathies are a group of clinically and genetically heterogeneous peripheral neuropathies. HSAN1 is inherited in an autosomal dominant fashion and is typically characterized by a later onset loss of pain and temperature sensation in the hands and feet, which can be accompanied by shooting pain attacks, lancinating pain, and skin ulcers predominantly affecting the lower limbs.

 

While variants in 5 different genes (SPTLC1, SPTLC2, ATL1, RAB7A and DNMT1) have been linked to HSAN1, the majority of variants are in SPTLC1 and SPTLC2, which encode 2 of 3 subunits of the serine palmitoyltransferase (SPT) enzyme. Variants in these 2 genes lead to a shift in SPT substrate specificity from L-serine to L-alanine, which ultimately produces 2 neurotoxic deoxysphingolipids, 1-deoxymethylsphinganine and 1-deoxysphinganine. The accumulation of these metabolites in the cells and serum of affected patients is thought to cause the clinical features associated with HSAN1. A recent clinical trial found that L-serine supplementation safely reduced levels of 1-deoxysphingolipids in humans and suggested that supplementation may offer a clinical benefit.(1)

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Sphinganine: < or =18.0 ng/mL

1-deoxysphinganine: < or =0.25 ng/mL

1-deoxymethylsphinganine: < or =0.04 ng/mL

Sphingosine: < or =80.0 ng/mL

1-deoxysphingosine: < or =0.05 ng/mL

1-deoxymethylsphingosine: < or =0.09 ng/mL

Interpretation
Provides information to assist in interpretation of the test results

Elevation of deoxysphingolipids may indicate hereditary sensory and autonomic neuropathy, type I caused by variants in SPTLC1 and SPTLC2.

 

Deoxysphingolipids may also be elevated in patients with other conditions such as type 2 diabetes mellitus, metabolic syndrome, mitochondrial disorders, glycogen storage disease type 1, and possibly disorders of serine biosynthesis.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This assay is not intended to but may detect neuropathies other than hereditary sensory and autonomic neuropathy, type I.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Fridman V, Suriyanarayanan S, Novak P, et al: Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 2019 Jan 22;92(4):e359-e370. doi: 10.1212/WNL.0000000000006811

2. Astudillo L, Sabourdy F, Therville N, et al: Human genetic disorders of sphingolipid biosynthesis. J Inherit Metab Dis. 2015 Jan;38(1):65-76

3. Gable K, Gupta SD, Han G, Niranjanakumari S, Harmon JM, Dunn TM: A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity. J Biol Chem. 2010 Jul 23;285(30):22846-22852

4. Penno AK, Reilly MM, Houlden H, et al: Hereditary sensory neuropathy type I is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010 Apr 9;285(15):11178-11187

5. Lone MA, Santos T, Alecu I, Silva LC, Hornemann T: 1-Deoxysphingolipids. 2019 Apr;1864(4):512-521. doi: 10.1016/j.bbalip.2018.12.013

6. Ferreira CR, Goorden SMI, Soldatos A, et al: Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability. Mol Genet Metab. 2018 Jul;124(3):204-209. doi: 10.1016/j.ymgme.2018.05.001

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

Method Description
Describes how the test is performed and provides a method-specific reference

Internal standard is added to the serum. Sphingolipids and deoxysphingolipids are extracted from the serum prior to injection onto a liquid chromatography-tandem mass spectrometry (LC-MS/MS) system. Following chromatographic isolation, the concentration is measured by MS/MS analysis in the selected reaction monitoring positive mode. The ratio of extracted peak area to internal standard is utilized to calculate the concentration of sphingolipid and deoxysphingolipid species in the sample.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Thursday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

8 to 15 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 month

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information

Test Id Test Order Name Order LOINC Value
HSAN1 Hereditary Sensory Neuropathy I, S In Process
Result Id Test Result Name Result LOINC Value
Result LOINC Value Tooltip
BG718 Reason for Referral 42349-1
BG719 Diabetic diagnosis In Process
605993 1-deoxysphinganine In Process
605996 1-deoxysphingosine In Process
605994 1-deoxymethylsphinganine In Process
605997 1-deoxymethylsphingosine In Process
605992 Sphinganine In Process
605995 Sphingosine In Process
605998 Interpretation (HSAN1) 59462-2
605991 Reviewed By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports