• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Neuromuscular disorders • Peripheral neuropathy • Hereditary motor/sensory neuropathy • AARS • BSCL2 • DCTN1 • DNAJB2 • DNM2 • DYNC1H1 • EGR2 • FGD4 • FIG4 • GARS • GDAP1 • GJB1 • HSPB1 • HSPB8 • IGHMBP2 • KIF1B • LITAF • LMNA • LRSAM1 • MED25 • MFN2 • MPZ • MTMR2 • NDRG1 • NEFL • PMP22 • PRPS1 • PRX • RAB7A • SBF2 • SH3TC2 • SPTLC1 • TRPV4 • YARS
  • CPT Code(s):
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Background:

Neuromuscular disorders are a group of heterogeneous conditions affecting the nervous system that controls muscle movements. Charcot-Marie-Tooth syndromes are a class of hereditary neuromuscular disorders affecting the motor and sensory systems. Disruptions to these nerves which control these systems cause progressive muscle weakness, atrophy and sensory loss. Charcot-Marie-Tooth may be inherited in an autosomal dominant, recessive or X-linked manner with an age of onset in between the teens to thirties. This test includes sequencing for the four most clinically significant genes associated with these conditions: PMP22, GJB1, MPZ, and MFN2.

Reasons for Referral:

  • Abnormal results in electromyogram and nerve conduction studies.
  • Positive family history.
  • Carrier testing.

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated. Exon-centric deletion/duplication analysis (1340) is also available if indicated.

Charcot-Marie-Tooth Syndrome Panel (34 genes):
AARS, BSCL2, DCTN1, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, HSPB1, HSPB8, IGHMBP2, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SPTLC1, TRPV4, YARS

Methodology:

Specimen Requirements:

Test Performed (Days):

Turn Around Time:

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References:

  1. Genetics Home Reference: https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease

Additional Info:

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