Pain Syndromes

Test Details
CPT CODE 81479
PRICE $1995
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

Order Kit

Clinical Information
Clinical Significance

Several genes play a critical role in determining pain sensitivity, pain reporting, response to pain, and susceptibility to developing chronic pain. Pain can be one of more symptoms of a genetic syndrome, like in some connective tissue disorders, metabolic disorders, blood disorders, or neurological disorders. This group of disorders can be classified as having reduced or no pain sensitivity, or excess pain sensitivity.

Reduced and no pain sensitivity disorders are hereditary sensory and autonomic neuropathies (HSAN). They present a genetically and clinically heterogeneous group of slowly progressive neurodegenerative disorders of the peripheral nervous system. The main feature is loss of large myelinated and unmyelinated nerve fibers. Based on clinical features, age at onset, mode of inheritance and causative genes, HSAN can be subdivided into 8 distinct types, HSAN1-8.

Several distinct clinical disorders associated with increased pain sensitivity are caused by pathogenic variants in the SCN9A gene and are all inherited in an autosomal dominant manner. Disorders also known as: Inherited erythromelalgia (IEM); Paroxysmal extreme pain disorder (PEPD), and Small fiber neuropathy (SFN).

Relevant Diseases
  • Pain Syndrome

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) 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 (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed

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