Sign in →

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


Patient Preparation: Fasting 8 hours

Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 1 mL


Useful For

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

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.

Method Name

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

Reporting Name

Hereditary Sensory Neuropathy I, S

Specimen Type

Serum

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

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

Reference Values

Sphinganine: ≤18.0 ng/mL

1-deoxysphinganine: ≤0.25 ng/mL

1-deoxymethylsphinganine: ≤0.04 ng/mL

Sphingosine: ≤80.0 ng/mL

1-deoxysphingosine: ≤0.05 ng/mL

1-deoxymethylsphingosine: ≤0.09 ng/mL

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

82542

LOINC Code 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
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

NY State Approved

Yes

Report Available

8 to 15 days

Day(s) Performed

Thursday