Casandra
Casandra Test Code PG82194Version 1 (DRAFT)
Performing Lab
Amyotrophic Lateral Sclerosis (ALS) Panel
Clinical Use
Order TestUse
This test is intended for individuals who have a clinical or suspected diagnosis of amyotrophic lateral sclerosis (ALS), especially those with symptom onset before the age of 55 years and individuals with a family history of ALS. The test can help confirm a diagnosis, identify the genetic cause of symptoms, and aid in family planning decisions.
Special Instructions
Not provided.
Limitations
The ALS panel may not detect all genetic mutations associated with ALS. Results interpretation requires detailed clinical information. Some variants may be of unknown significance, and negative results do not rule out a genetic cause of disease if symptoms are present.
Test Details
New York Approved
Methodology
NGS
Biomarkers
Mutation (31 genes)
C9orf72SOD1TARDBPFUSANGOPTNVCPSQSTM1UBQLN2CHCHD10FIG4TUBA4ATBK1SPG11ALS2SETXDCTN1ATXN2NEK1CCNFCYLDVIC3KIF5ATARDBPCHCHD2SYVN1DNAJC5MAPTHNRNPA1HNRNPA2B1PFN1
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided