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:
Shipment Sensitivity Requirements:
References:
- Genetics Home Reference: https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease
Additional Info: