Amyotrophic lateral sclerosis (ALS)

Forms and Documents

Test Details

C9ORF72
  • Molecular confirmation of a clinical diagnosis
  • PCR Fragment Analysis

Ordering

J805
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Mackenzie et al. (2014) Acta Neuropathol. 127 (3):347-57 (PMID: 24356984)
  2. White et al. (2016) Curr. Opin. Neurol. 29 (5):557-64 (PMID: 27538057)
  3. Cruts M, Engelborghs S, van der Zee J, et al. C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. 2015 Jan 8. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seat
  4. Cruts et al. (2013) Trends Neurosci. 36 (8):450-9 (PMID: 23746459)
  5. van der Zee et al. (2013) Hum. Mutat. 34 (2):363-73 (PMID: 23111906)
  6. Gijselinck et al. (2016) Mol. Psychiatry 21 (8):1112-24 (PMID: 26481318)
  7. Akimoto et al. (2014) J. Med. Genet. 51 (6):419-24 (PMID: 24706941)
  8. Ross LF, Saal HM, David KL, Anderson RR; American Academy of Pediatrics; American College of Medical Genetics and Genomics. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013 Mar;15(3):234-45.
  9. COMMITTEE ON BIOETHICS, COMMITTEE ON GENETICS, AND THE AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS SOCIAL, ETHICAL, AND LEGAL ISSUES COMMITTEE. POLICY STATEMENT. Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics. 201
  10. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet. 1995 Nov;57(5
  11. NSGC Executive Office. Genetic Testing of Minors for Adult-Onset Conditions Position Statement (Adopted 2012).
  12. AMA Code of Medical Ethics Opinion 2.138 - Genetic Testing of Children. Issued June 1996.
  13. Botkin JR et al. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. American Journal Of Human Genetics. 2015 Jul 02 97(1):6-21.2614044

Forms and Documents

Test Details

ALS2, ANG, CHCHD10, CHMP2B, FUS, GRN, HNRNPA2B1, MAPT, MATR3, OPTN, PFN1, PRPH, SETX, SLC52A3, SOD1, SPG11, SQSTM1, TAF15, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T404
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81403x1, 81404x1, 81405x1, 81406x2, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com