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

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

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

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

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)

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)

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.

• 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

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

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.

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.

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

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing