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Test Code 2079

Nemaline Myopathy via the NEB Gene, Exons 82-105 (Triplicate Repeat Region)

NEB

3 - 4 weeks (12 - 19 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of nemaline myopathy
  • Individuals with a single variant in NEB identified on whole exome sequencing or NGS panel testing and a strong suspicion of nemaline myopathy
  • Reproductive partners of individuals with a known pathogenic variant in the NEB gene
Method
Sanger Sequencing
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
for pricing.

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