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Comprehensive Neuropathies (NGS Panel and Copy Number Analysis + mtDNA)

TEST: NGS445
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CPT: 81448, 81460, 81465
Updated on 10/18/2024
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Genes Assessed

      Specimen Requirements

      Specimen

      Room Temp whole blood, oral swab, extracted DNA (from blood, oral swab, or muscle only) OR frozen muscle tissue

      Blood | Extracted DNA | Cultured Fibroblasts | Muscle | Buccal Cells

      Room Temp whole blood, oral swab, extracted DNA (from blood, oral swab, or muscle only) OR frozen muscle tissue

      Volume

      Whole blood: 4 ml
      Oral swab: 3 swabs
      Muscle:  75 milligrams
      Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Blood: Draw blood in a lavender top EDTA tube, Sample Stability: 5-7 days, Preferred volume: 4 ml, Minimum volume: 2 ml, DO NOT FREEZE. Extracted DNA: From leukocytes, muscle, or fibroblasts: Preferred quantity: 1 microgram, Minimum quantity: 800 nanograms. Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0. Cultured Fibroblasts: Two T-25 flasks of fibroblasts, preferably ~90% confluent. TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80°Celsius or below. Buccal Cells: One buccal swab should be used for collection. Do not discard solution in collection tube. Follow collection instructions supplied. Stability at ambient temperature is 60 days.

      Whole blood: 4 mlOral swab: 3 swabsMuscle:  75 milligramsExtracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Minimum Volume

      Whole blood: 2 ml
      Oral swab: 1 swab
      Muscle:  50 milligrams
      Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Container

      Whole blood: Lavender-top (EDTA) 
      Oral swab: OCD-100 DNA Genotek
      Muscle:  Sterile screw capped vial
      Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Blood: Lavender-Top (EDTA) Tube, Buccal Swab from MNG Kit, Tissue or Extracted DNA: Sterile screw capped vial, Cultured cells: T25 flask

      Whole blood: Lavender-top (EDTA) Oral swab: OCD-100 DNA GenotekMuscle:  Sterile screw capped vialExtracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Collection

      Whole blood: standard phlebotomy
      Oral swab: follow kit instructions
      Muscle:  Snap freeze in liquid nitrogen and maintain at -80°C
      Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Blood: Specimens should be shipped overnight in a secure container at room temperature. Extracted DNA: Should be shipped overnight at room temperature. If previously frozen, DNA can be shipped in an insulated container with wet or dry ice. Cultured Fibroblasts: T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (TC05). For NGS panels, TAT will be extended by 7-14 days if cells are not confluent upon arrival. Muscle: Samples should be shipped frozen in an insulated container with 5-7 lbs. dry ice, overnight. Buccal cells: Should be shipped overnight in a secure container at room temperature.

      Whole blood: standard phlebotomyOral swab: follow kit instructionsMuscle:  Snap freeze in liquid nitrogen and maintain at -80°CExtracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

      Storage Instructions

      Maintain whole blood and oral swab specimens at room temperature or refrigerate at 4°C. Do not freeze.  Muscle specimen: maintain frozen and ship on dry ice.

      Blood - ship ASAP, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE; Swab - 60 day post-collection room temperature stability; DNA - ship at room temperature after extraction; Fibroblasts - ship flask in insulated container at room temp or refigerated; Muscle - ship in insulated container with 5-7 lbs of dry ice

      Maintain whole blood and oral swab specimens at room temperature or refrigerate at 4°C. Do not freeze.  Muscle specimen: maintain frozen and ship on dry ice.

      Stability Requirements

      • Room temperature: Whole blood: 14 days; Swab: 60 days; Muscle:  0 days
      • Refrigerated: Whole blood: 30 days; Swab: 60 days; Muscle: 0 days
      • Frozen: Muscle: 15 years

      Room Temperature: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Refrigerated: Blood - 5 days, Swab - 60 days, DNA - 30 days, Muscle - 0 days, Fibroblasts - 2-3 days; Frozen: Blood - DO NOT FREEZE, Swab - 60 days, DNA - Indefinitely, Muscle - Indefinitely, Fibroblasts - Indefinitely; Freeze/Thaw: None

      • Room temperature: Whole blood: 14 days; Swab: 60 days; Muscle:  0 days• Refrigerated: Whole blood: 30 days; Swab: 60 days; Muscle: 0 days• Frozen: Muscle: 15 years

      Causes for Rejection

      Hemolyzed, quantity not sufficient for analysis, improper container, improper storage temperature

      Extracted DNA A260:A280 ratio of outside of 1.8-2.0 range; Frozen blood EDTA tube; Thawed and/or fatty muscle sample; Insufficient buccal cell collection

      Hemolyzed, quantity not sufficient for analysis, improper container, improper storage temperature

      Test Details

      Use

      Hereditary neuropathies are large group of genetically and phenotypically heterogeneous disorders affecting the peripheral nervous system. Symptoms of the hereditary neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in feet and hands, or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles. Certain types of hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain. Some affected individuals may have foot deformities such as high arches and hammer toes, thin calf muscles, or scoliosis. The symptoms of hereditary neuropathies may be apparent at birth, or appear in middle life, or late life. Symptoms can even vary among different family members, with some family members being more severely affected than others. The hereditary neuropathies can be diagnosed by nerve conduction studies, nerve biopsies, and genetic testing.

      Limitations

      This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples, or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting, and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

      This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

      This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples, or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting, and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

      This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

      Methodology

      Next generation sequencing to identify single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).  

      Next-Generation Sequencing

      Next generation sequencing to identify single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).  

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