• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The SPTLC1 gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 1A (HSAN1A) (MedGen UID: 5645).

Order single gene


Order this gene as a single gene test.

Order a test

Invitae tests that include this gene:

Pathogenic variants in SPTLC1 account for 12% of patients with hereditary sensory and autonomic neuropathy.

SPTLC1 encodes a subunit of serine palmitoyltransferase (SPT). SPT is located at the outer membrane of the endoplasmic reticulum and is the initial enzyme in sphingolipid biosynthesis. Sphingolipids, having both a structural and a signaling function, are essential for all eukaryotic cells.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
SPTLC1 NM_006415.3