Laboratory Test Information Guide

Details for Hereditary Sensory Neuropathy

Test Name: Hereditary Sensory Neuropathy
Alternate Name(s): HSN1
Laboratory: Molecular Diagnostics
Specimen Type: Whole blood-2 x 4 mL Lavender EDTA top Vacutainer tube
Collection Information: Blood samples must be maintained at room temperature.
Requisition: MOLECULAR DIAGNOSTIC REQUISITION
Test Schedule: As Required
Monday - Friday
0800 - 1630 h
Turnaround time from when specimen
is received in testing laboratory:
 
Routine
3 months
Stat
 
 
Reference Range: See report
Effective Date:  
Revised Date: 2016-03-21
Critical Value: N/A
Interpretive Comments: Hereditary sensory neuropathy type I (HSN1) is the most common hereditary disorder of peripheral sensory neurons, and is an autosomal dominant condition resulting in progressive degeneration of dorsal root ganglia and motor neurons with onset in the second or third decades. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1 have been shown to be responsible for this condition1,2. Early reports in the literature suggest that mutations both in exon 5 (C133Y and C133W)1 and exon 6 of SPTLC1 (V144D)1 can be responsible for this condition.

References

1. Dawkins JL et al (2001) Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 2001 Mar;27(3):309-12
2. Bejaoui K et al (2001) SPTLC1 is mutated in hereditary sensory neuropathy, type 1 Nat Genet 2001 Mar;27(3):261-2
Special Processing:  
Comments: For more information click on:
Molecular Diagnostic Laboratory
Method of Analysis: DNA Sequence Analysis
Critical Information Required: Pedigree required
Storage & Shipment: Must be received within 5 days of collection, shipped at room temperature by courier/overnight delivery.
System Codes: 
Cerner
 
 
Referred To:  

Questions? Comments? Contact Laura Gopaul