Charcot Marie Tooth Disease Extended NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

Charcot-Marie-Tooth disease
Hereditary sensory neuropathy
Hereditary sensory 
Charcot-Marie-Tooth disease (CMT) is a group of neurological disorders that damage the peripheral nerves.  In the early stages, patients may experience high sensitivity to heat, cold, and touch. Muscle weakness and impaired motor skills are also early warning signs. As the disease progresses, patients may lose sensation in their feet, hands, legs, and/or arms and this may lead to partial paralysis. Symptoms usually begin in early adolescence. There is no cure for CMT, but it is not usually life-threatening and the symptoms can be managed with treatment.

This panel analyzes over 50 genes linked to CMT, hereditary sensory neuropathy, hereditary sensory and autonomic neuropathy, and other conditions with similar presentation.This panel may be appropriate for anyone with a personal or family history of neuropathy, including CMT. If a patient exhibits symptoms of CMT, their provider may order various tests, including genetic tests, to confirm the diagnosis and the extent of the nerve damage.Genetic testing has many benefits for individuals with CMT or who have a family history of CMT. If a genetic variant is present, this panel can determine which gene is affected and give providers a better understanding of how the disease might progress. Genetic testing is one of the most reliable methods of confirming CMT in all of its forms.

Genetic testing for CMT can:
  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional related symptoms
  • Result in more personalized treatment and symptom management
  • Inform family members about their own risk factors
  • Connect patients to relevant resources & support
  • Provide options for family planning

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3-5 weeks
Call for details
AARS, AIFM1, ATL1, ATP7A, BSCL2, COX6A1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SH3TC2, SLC12A6, SPTLC1, SPTLC2, TRIM2, TRPV4, TTR, WNK1, YARS ( 59 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

CPT Code 81325, 81404, 81405, 81406, 81479

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

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Charcot Marie Tooth Disease