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Test Code
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5132
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Test Name
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Charcot-Marie-Tooth Disease NGS Panel
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CPT Codes
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81479
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Expected Turnaround Time
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Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
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Clinical Utility
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Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
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Specimen and Container Info
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Non-Prenatal Specimens Preferred/Alternate | Specimen Type | Containers | Volume | Preferred Specimen Type | Whole Blood | Lavender Top (EDTA) | 3 mL | Alternate Specimen Type | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. | Alternate Specimen Type | Fibroblasts | T-25 Flasks | 2 confluent T-25 flasks, filled to capacity | Alternate Specimen Type | Saliva (Whole blood is recommended for CNV) | DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children | Follow kit instructions (www.dnagenotek.com) |
Prenatal Specimens Either specimen type below is acceptable. Specimen Type | Containers | Volume | Cultured cells | T-25 Flasks | 2 confluent T-25 flasks derived from amnio or CVS samples. | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. |
NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico. |
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Transport Instructions
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- Transport at room temperature within 24 hours.
- If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
- Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.
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Stability Requirements
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Room Temperature
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Refrigerated
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Causes for Rejection
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- Improperly labeled specimen (minimum of two patient identifiers)
- Inappropriate specimen type
- Incomplete or incorrect test request form
- Insufficient volume
- Specimen has leaked in transit
- Specimen without a test order
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Methodology
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Next Generation Sequencing and Copy Number Variation Analysis
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Performing Location
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Genomics - Snowdrift
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Alternate Names
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CMT
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Description
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Charcot Marie Tooth (CMT) hereditary neuropathies are a group of disorders characterized by dysfunction of peripheral motor and sensory nerves. Clinical features of CMT include progressive distal muscle weakness and atrophy, mild to moderate distal sensory loss, depressed tendon reflexes, and a typical foot deformity with pes cavus and hammer toes. CMT has been categorized into multiple subtypes based primarily on nerve conduction velocities and pattern of inheritance. These subtypes include autosomal dominant demyelinating neuropathies (CMT1), autosomal dominant axonal neuropathies (CMT2), autosomal dominant intermediate neuropathies (DI-CMT), autosomal recessive demyelinating and axonal neuropathies (CMT4), autosomal recessive intermediate neuropathies (RI-CMT) and X-linked neuropathies (CMTX). The Charcot Marie Tooth disease NGS panel consists of 43 genes associated with the various types of CMT: AARS, AIFM1, ATP1A1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, TRPV4 and YARS. Gene | Disorder | MIM | Inheritance | AARS | Charcot Marie Tooth disease, axonal, type 2N (CMT2N) | 613287 | AD | AIFM1 | Charcot Marie Tooth disease, X-linked recessive, 4 (CMTX4) | 310490 | XL | ATP1A1 | Charcot Marie Tooth disease, ATP1A1 related | - | AD | BSCL2 | Neuronopathy, distal hereditary motor, type VA (HMN5A) | 600794 | AD | C12ORF65 | Spastic paraplegia 55, autosomal recessive (SPG55) Combined oxidative phosphorylation deficiency 7 (COXPD7) | 615035 613559 | AR AR | COX6A1 | Charcot Marie Tooth disease, recessive intermediate D (CMTRID) | 616039 | AR | DHTKD1 | Charcot Marie Tooth disease, axonal, type 2Q (CMT2Q) | 615025 | AD | DNM2 | Charcot Marie Tooth disease, dominant intermediate B (CMTDIB) | 606482 | AD | DYNC1H1 | Charcot-Marie-Tooth disease, axonal, type 20 (CMT2O) | 614228 | AD | EGR2 | Charcot Marie Tooth disease, demyelinating, type 1D (CMT1D) Dejerine-Sottas disease (DSS) Neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive (CHN) | 607678 145900 605253 | AD AD AD / AR | FGD4 | Charcot-Marie-Tooth disease, type 4H (CMT4H) | 609311 | AR | FIG4 | Charcot-Marie-Tooth disease, type 4J (CMT4J) | 611228 | AR | GARS | Charcot-Marie-Tooth disease, axonal, type 2D (CMT2D) | 601472 | AD | GDAP1 | Charcot-Marie-Tooth disease, type 4A (CMT4A) | 214400 | AR | GJB1 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (CMTX1) | 302800 | XL | GNB4 | Charcot-Marie-Tooth disease, dominant intermediate F (CMTDIF) | 615185 | AD | HADHB | Charcot-Marie-Tooth disease, axonal, HADHB related | - | AR | HSPB1 | Charcot-Marie-Tooth disease, axonal, type 2F (CMT2F) | 606595 | AD | HSPB8 | Charcot-Marie-Tooth disease, axonal, type 2L (CMT2L) | 608673 | AD | KARS | Charcot-Marie-Tooth disease, recessive intermediate, B (CMTRIB) | 613641 | AR | KIF1B | Charcot-Marie-Tooth disease, axonal, type 2A1 (CMT2A1) | 118210 | AD | LITAF | Charcot-Marie-Tooth disease, type 1C (CMT1C) | 601098 | AD | LMNA | Charcot-Marie-Tooth disease, axonal, type 2B1 (CMT2B1) | 605588 | AR | LRSAM1 | Charcot-Marie-Toothe disease, axonal, type 2P (CMT2P) | 614436 | AD / AR | MED25 | Charcot-Marie-Tooth disease, type 2B2 (CMT2B2) | 605589 | AR | MFN2 | Hereditary motor and sensory neuropathy VI (HSMN6) | 601152 | AD | MPZ | Charcot Marie Tooth disease, dominant intermediate D (CMTDID) Charcot Marie Tooth disease, demyelinating, type 1B (CMT1B) Charcot-Marie-Tooth disease, axonal, type 2I (CMT2I) Charcot-Marie-Tooth disease, axonal, type 2J (CMT2J) Dejerine-Sottas disease (DSS) Neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive (CHN) | 607791 118200 607677 607736 145900 605253 | AD AD AD AD AD AD | MTMR2 | Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) | 601382 | AR | NDRG1 | Charcot-Marie-Tooth disease, type 4D (CMT4D) | 601455 | AR | NEFL | Charcot-Marie-Tooth disease, axonal, type 2E (CMT2E) Charcot-Marie-Tooth disease, demyelinating, type 1F (CMT1F) | 607684 607734 | AD AD | PDK3 | Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) | 300905 | XL | PLEKHG5 | Charcot-Marie-Tooth disease, recessive intermediate C (CMTRIC) | 615376 | AR | PMP22 | Charcot-Marie-Tooth disease, demyelinating, type 1E (CMT1E) Charcot-Marie-Tooth disease, demyelinating, type 1A (CMT1A) Dejerine-Sottas disease (DSS) | 118300 118220 145900 | AD AD AD / AR | PRPS1 | Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) | 311070 | XL | PRX | Charcot-Marie-Tooth disease, demyelinating, type 4F (CMT4F) Dejerine-Sottas disease (DSS) | 614895 145900 | AR AR | RAB7A | Charcot-Marie-Tooth disease, axonal, type 2B (CMT2B) | 600882 | AD | SBF1 | Charcot-Marie-Tooth disease, type 4B3 (CMT4B3) | 615284 | AR | SBF2 | Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) | 604563 | AR | SH3TC2 | Charcot-Marie-Tooth disease, type 4C (CMT4BC) | 601596 | AR | TFG | Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO) | 604484 | AD | TRIM2 | Charcot-Marie-Tooth disease, axonal, type 2R (CMT2R) | 615490 | AR | TRPV4 | Hereditary motor and sensory neuropathy, type IIc (HMSN2C) | 606071 | AD | YARS | Charcot-Marie-Tooth disease, dominant intermediate C (CMTDIC) | 608323 | AD |
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Testing Schedule
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Monday-Friday
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Genes
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AARS, AIFM1, ATP1A1, BSCL2, C12ORF65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HADHB, HSPB1, HSPB8, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TFG, TRIM2, TRPV4, YARS
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MIM
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118200, 118210, 118220, 118300, 145900, 214400, 300905, 302800, 310490, 311070, 600794, 600882, 601098, 601152, 601382, 601455, 601472, 601596, 604484, 604563, 605253, 605588, 605589, 606071, 606482, 606595, 607677, 607678, 607684, 607734, 607736, 607791, 608323, 608673, 609311, 611228, 613287, 613559, 613641, 614228, 614436, 614895, 615025, 615035, 615185, 615284, 615376, 615490, 616039
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Disease Group
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Neuromuscular
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