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Laboratory Test Directory

SEPN1 Gene Sequencing


Name Method Department Units
SEPN1 Gene Sequencing Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
Sanger sequencing
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume

Purple tube (EDTA)

4 mL 4 mL-8 mL

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Centrifuged specimen
  • Clotted specimen
  • Frozen specimen
  • Wrong collection tube
  • Delayed or improper handling


Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required. If available, please submit a copy of the muscle biopsy results. 

The congenital muscular dystrophies (CMDs) are a genetically and clinically heterogenous group of muscle disorders associated with congenital hypotonia (present at birth) and delayed motor milestones followed by the development of contractures, scoliosis and muscle weakness. Loss-of-function mutations in the SEPN1 gene have been associated with rigid spine muscular dystrophy (RSMD1), which is an autosomal recessive disorder characterized by hypotonia and poor head control evident in the neonatal period, tyipcally with no delay in motor milestones, and scoliosis as a major feature for most patients (resulting from the rigidity of the spine). Mutations in SEPN1 also cause a classical form of Multiminicore disease (MmD), with 30%-50% of MmD caused by mutation sin the SEPN1 gene. MmD is autosomal recessive congenital myopathy with significant phenotypic overlap with RSMD1, including hypotonia, muscle weakness, and scoliosis. As in most patients with CMDs, patients with MmD have short stature, failure to thrive, and a Marfanoid body habitus. The diagnosis of MmD is made based on these clinical features and the presence of “minicores” on muscle biopsy. This test sequences the entire protein-coding regions of the SEPN1 gene. Please note that this testing does not include SEPN1 deletion/duplication analysis.

Targeted mutation analysis available for other family members when mutation known (see test code FMLIS).


Lab Form

CPT Code

  • 81479