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Amyotrophic Lateral Sclerosis (NGS Panel and Copy Number Analysis)

CPT: 81325, 81324, 81403 (x1), 81404 (x1), 81405 (x2), 81406 (x5), 81407 (x1), 81479(x1)

Genes Assessed


      Specimen Requirements


      Specimen

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


      Volume

      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.


      Container

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


      Collection

      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.


      Storage Instructions

      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


      Stability Requirements

      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


      Causes for Rejection

      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


      Test Details


      Use

      Amyotrophic lateral sclerosis (ALS) is a progressive disease where motor neurons atrophy, leading to muscle weakness, a loss of muscle mass, and an inability to control movement. There are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. About 90-95% of ALS cases are sporadic, which means it occurs in people with no family history. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of affected individuals, estimated at 1%, have a family history of ALS. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member. Average disease duration is about 3 years, but it can vary significantly. Death usually results from compromise of the respiratory muscles. The diagnosis of ALS is based on clinical features, electro-diagnostic testing, and exclusion of other health conditions with related symptoms. Molecular genetic testing plays a prominent role in diagnosis of the genetic subtype and genetic counseling. Amyotrophic lateral sclerosis can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Genetic counseling and risk assessment depend on accurate determination of the specific genetic diagnosis.


      Methodology

      Next-Generation Sequencing


      Recommended MNG Kits

      SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing


      Z-Code

      ZB5XV