Amyotrophic lateral sclerosis 1
Diagnosis and Testing
How do I get tested for Amyotrophic Lateral Sclerosis?
A series of tests may be required to diagnose amyotrophic lateral sclerosis (ALS), since it may present in similar ways to other neuromuscular disorders. Studies may include:
- Electromyography (EMG): A special recording technique that detects electrical activity in muscle
- Nerve conduction study (NCS): A test that measures electrical energy by assessing the nerve's ability to send signals
- Magnetic resonance imaging (MRI): MRIs are used to rule out other disorders. Patients with ALS will have normal MRIs.
- Blood/urine samples: Used to rule out other disorders or illness that can look like ALS
- Muscle biopsy: Used to rule out muscle disease
- Genetic testing: Using DNA to test for variations in genes that are known to cause ALS
More Diagnosis and Testing Content
Is there newborn testing for Amyotrophic Lateral Sclerosis?
Testing for amyotrophic lateral sclerosis (ALS) is not typically offered to individuals under the age of 18. Newborn screening, which specifically looks at specific genetic disorders in most newborns, does not include screening for ALS.
Is there more than one test for Amyotrophic Lateral Sclerosis?
Amyotrophic lateral sclerosis is generally diagnosed using a combination of tests, including genetic testing, to confirm a diagnosis and help rule out other possible muscle wasting conditions.
Who else in my family should I test for Amyotrophic Lateral Sclerosis?
The standard in genetic testing is to test someone in the family who has the diagnosis of familial amyotrophic lateral sclerosis (ALS) first. However, if no one with ALS is available, testing an individual without ALS may also be appropriate. In general, children should not be tested until they are at least 18 years of age. Genetic testing for familial ALS is an individual decision and not all family members may wish to be tested. Genetic counseling is recommended for all family members to discuss the benefits and limitations of testing.
Does it matter if you test blood vs. saliva vs biopsy for Amyotrophic Lateral Sclerosis?
Either blood or saliva can be provided for DNA testing, depending on the lab that will be used for testing. Biopsy is not typically offered as part of diagnostic testing for amyotrophic lateral sclerosis (ALS).