Molecular Test Listing

Molecular Requisition

Familial Amyotrophic Lateral Sclerosis (ALS), (also known as Lou Gehrig’s Disease) is a progressive paralytic disease with a typical onset in adulthood which causes degeneration of the large motor neurons of the brain and spinal cord. This results in the wasting of the skeletal muscles and usually results in death within 5 years. There are multiple proposed targets for the pathological process and only 5-10% of the cases have an obvious familial pattern of inheritance.

Mutations in the superoxide dismutase gene (Chromosome 21q) are responsible for a proportion of the cases of familial amyotrophic lateral sclerosis. Most papers have found the incidence of SOD1 mutations to be in the range of 50%. A variety of unique family mutations have been described in exons 1-5 of the SOD1 gene. However, there is little evidence that this gene plays a significant role in the cause of fALS in spontaneous cases of the disease. Therefore, only 4-8% of cases of ALS will have an identifiable SOD1 mutation.

• To determine whether SOD1 is responsible for fALS in a patient with progressive muscle weakness.
• To evaluate the risk of having a child with SOD1.
• Individuals at risk who wish prenatal diagnosis.

• PCR amplification of exons 1-5 of the SOD gene and DNA sequencing.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     15 working days

CPT CODES: