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  • Test code: 03201
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Charcot-Marie-Tooth Disease Comprehensive Panel

Test description

The Invitae Charcot-Marie-Tooth Disease Comprehensive Panel analyzes genes associated with Charcot-Marie-Tooth disease (CMT), a group of hereditary neuropathies characterized by progressive muscle weakness and sensory loss in the arms and legs. These genes were curated based on currently available evidence to provide a comprehensive test for the genetic causes of CMT. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.

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Primary panel (57 genes)

AARS AIFM1 ATP1A1 BAG3 BSCL2 COX6A1 DHTKD1 DNAJB2 DNM2 DRP2 DYNC1H1 EGR2 FBLN5 FGD4 FIG4 GARS GDAP1 GJB1 GNB4 HARS HINT1 HSPB1 HSPB8 IGHMBP2 INF2 KIF5A LITAF LMNA LRSAM1 MARS MCM3AP MED25 MFN2 MME MORC2 MPZ MTMR2 NDRG1 NEFH NEFL PDK3 PLEKHG5 PMP2 PMP22 PRPS1 PRX RAB7A SBF1 SBF2 SH3TC2 SLC25A46 SPG11 SURF1 TFG TRIM2 TRPV4 YARS

Add-on Preliminary-evidence Genes for Charcot-Marie-Tooth Disease (3 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future.

ARHGEF10 MICAL1 SGPL1

Broad disorders tested:

  • Charcot-Marie-Tooth Disease

Individual disorders tested:

  • Autosomal Dominant Charcot-Marie-Tooth disease (CMT) Subtypes
  • BAG3-related Charcot-Marie-Tooth disease
  • Charcot Marie Tooth disease type 2 (CMT2)
  • Charcot-Marie-Tooth disease type 1A (CMT1A), type 1E (CMT1E), hereditary neuropathy with liability to pressure palsies (HNPP)
  • Charcot-Marie-Tooth disease type 1B (CMT1B), type 2I (CMT2I), type 2J (CMT2J), dominant intermediate (DI-CMTD)
  • Charcot-Marie-Tooth disease type 1C (CMT1C)
  • Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 3 (CMT3), Dejerine-Sottas syndrome
  • Charcot-Marie-Tooth disease type 1F (CMT1F), type 2E (CMT2E)
  • Charcot-Marie-Tooth disease type 1G (CMT1G)
  • Charcot-Marie-Tooth disease type 2A (CMT2A), type 6A (CMT6A)
  • Charcot-Marie-Tooth disease type 2B (CMT2B)
  • Charcot-Marie-Tooth disease type 2C (CMT2C)
  • Charcot-Marie-Tooth disease type 2CC (CMT2CC)
  • Charcot-Marie-Tooth disease type 2D (CMT2D)
  • Charcot-Marie-Tooth disease type 2DD (CMT2DD)
  • Charcot-Marie-Tooth disease type 2F (CMT2F)
  • Charcot-Marie-Tooth disease type 2K (CMT2K)
  • Charcot-Marie-Tooth disease type 2L (CMT2L)
  • Charcot-Marie-Tooth disease type 2M (CMT2M), type B (CMTDIB)
  • Charcot-Marie-Tooth disease type 2N (CMT2N)
  • Charcot-Marie-Tooth disease type 2O (CMT2O)
  • Charcot-Marie-Tooth disease type 2P (CMT2P)
  • Charcot-Marie-Tooth disease type 2Q (CMT2Q)
  • Charcot-Marie-Tooth disease type 2T (CMT2T)
  • Charcot-Marie-Tooth disease type 2U (CMT2U)
  • Charcot-Marie-Tooth disease type 2Z (CMT2Z)
  • Charcot-Marie-Tooth disease type C (CMTDIC)
  • Charcot-Marie-Tooth disease type C (CMTRIC)
  • Charcot-Marie-Tooth disease type E (CMT-DIE)
  • Charcot-Marie-Tooth disease type F (CMTDIF)
  • Charcot-Marie-Tooth disease, type 2W (CMT2W)

  • Autosomal Recessive Charcot-Marie-Tooth Disease (CMT) Subtypes
  • Charcot-Marie-Tooth disease D (CMTRID)
  • Charcot-Marie-Tooth disease type 1F (CMT1F)
  • Charcot-Marie-Tooth disease type 2A (CMT2A)
  • Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
  • Charcot-Marie-Tooth disease type 2E (CMT2E)
  • Charcot-Marie-Tooth disease type 2K (CMT2K)
  • Charcot-Marie-Tooth disease type 2P (CMT2P)
  • Charcot-Marie-Tooth disease type 2S (CMT2S)
  • Charcot-Marie-Tooth disease type 2T (CMT2T)
  • Charcot-Marie-Tooth disease type 2X (CMT2X)
  • Charcot-Marie-Tooth disease type 4A (CMT4A)
  • Charcot-Marie-Tooth disease type 4B1 (CMT4B1)
  • Charcot-Marie-Tooth disease type 4B2 (CMT4B2)
  • Charcot-Marie-Tooth disease type 4B3 (CMT4B3)
  • Charcot-Marie-Tooth disease type 4C (CMT4C)
  • Charcot-Marie-Tooth disease type 4D (CMT4D)
  • Charcot-Marie-Tooth disease type 4E (CMT4E), congenital hypomyelinating neuropathy
  • Charcot-Marie-Tooth disease type 4F (CMT4F)
  • Charcot-Marie-Tooth disease type 4H (CMT4H)
  • Charcot-Marie-Tooth disease type 4J (CMT4J)
  • Charcot-Marie-Tooth disease type 4K (CMT4K)
  • Charcot-Marie-Tooth disease type 6B (CMT6B), hereditary motor and sensory neuropathy type VIB (HMSN6B)
  • Charcot-Marie-Tooth disease, recessive intermediate A (CMTRIA)
  • Charcot-Marie-Tooth disease, type 2R (CMT2R)
  • X-linked Charcot-Marie-Tooth Disease (CMT) Subtypes
  • Charcot-Marie-Tooth disease type 1X (CMT1X)
  • Charcot-Marie-Tooth disease type 4 (CMTX4), Cowchock syndrome
  • Charcot-Marie-Tooth disease type 5 (CMTX5)
  • Charcot-Marie-Tooth disease type 6 (CMTX6)
  • DRP2-associated Charcot-Marie-Tooth disease
  • Other Disorders
  • hereditary motor and sensory neuropathy, Okinawa type (HMSNO)
  • hereditary neuropathy with or without age-related macular degeneration (HNARMD)
  • neuromyotonia and axonal neuropathy (NMAN)
  • peripheral neuropathy with or without impaired intellectual development (PNRIID)

To view the complete clinical description of this panel, click here.

Charcot-Marie-Tooth disease can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
AARS NM_001605.2
AIFM1 NM_004208.3
ARHGEF10 NM_014629.3
ATP1A1* NM_000701.7
BAG3 NM_004281.3
BSCL2 NM_032667.6
COX6A1 NM_004373.3
DHTKD1 NM_018706.6
DNAJB2 NM_001039550.1
DNM2 NM_001005360.2
DRP2 NM_001939.2
DYNC1H1 NM_001376.4
EGR2 NM_000399.3
FBLN5 NM_006329.3
FGD4 NM_139241.3
FIG4 NM_014845.5
GARS NM_002047.2
GDAP1 NM_018972.2
GJB1 NM_000166.5
GNB4 NM_021629.3
HARS NM_002109.5
HINT1 NM_005340.6
HSPB1 NM_001540.3
HSPB8 NM_014365.2
IGHMBP2 NM_002180.2
INF2 NM_022489.3
KIF5A NM_004984.2
LITAF NM_004862.3
LMNA NM_170707.3
LRSAM1 NM_138361.5
MARS NM_004990.3
MCM3AP NM_003906.4
MED25 NM_030973.3
MFN2 NM_014874.3
MICAL1 NM_001286613.1
MME* NM_007289.2
MORC2 NM_001303256.2
MPZ NM_000530.6
MTMR2 NM_016156.5
NDRG1 NM_006096.3
NEFH NM_021076.3
NEFL NM_006158.4
PDK3 NM_001142386.2
PLEKHG5 NM_020631.4
PMP2 NM_002677.3
PMP22 NM_000304.3
PRPS1 NM_002764.3
PRX NM_181882.2
RAB7A NM_004637.5
SBF1 NM_002972.3
SBF2 NM_030962.3
SGPL1 NM_003901.3
SH3TC2 NM_024577.3
SLC25A46 NM_138773.2
SPG11 NM_025137.3
SURF1 NM_003172.3
TFG NM_006070.5
TRIM2 NM_001130067.1
TRPV4 NM_021625.4
YARS NM_003680.3

ATP1A1: Deletion/duplication analysis is not offered for exon 1.
MME: Deletion/duplication analysis is not offered for exons 3, 5-6.