Invitae Amyotrophic Lateral Sclerosis Panel
Use
The Invitae Amyotrophic Lateral Sclerosis Panel analyzes genes associated with ALS, a progressive neurodegenerative condition involving loss of upper and lower motor neurons. The genetic heterogeneity of ALS requires comprehensive testing to accurately identify potential genetic causes. The test aids in confirming clinical diagnoses, predicting disease progression, and facilitating early detection of symptoms.
Special Instructions
This test does not include the C9orf72 gene, which is a common cause of ALS. It is recommended to consider tests that include the C9orf72 gene for comprehensive analysis. Genetic counseling is advised due to the implications of testing for disorders with no known treatment.
Limitations
The test achieves >99% analytical sensitivity and specificity for certain variants but may have reduced sensitivity for large insertions or structurally complex variants. Single exon copy number events may not be fully analyzed due to sequence properties. Some non-coding regions and specific structural rearrangements may not be detected.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)