Amyotrophic Lateral Sclerosis (NGS Panel and Copy Number Analysis)

Whole blood, oral swab, extracted DNA (from blood or oral swab only)

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

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

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

Whole blood: standard phlebotomy. 
Oral swab: follow kit instructions
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze. 

• Room temperature: Whole blood: 14 days; Swab: 60 days
• Refrigerated: Whole blood: 30 days; Swab: 60 days
• Frozen: Do not freeze

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

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.

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 genetic variants, including single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs). 

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing