DMPK Repeat Analysis

Forms and Documents

Test Details

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

Ordering

818
3 weeks
10-15 mL Blood - Lavender Top Tube

Billing

81401x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Arsenault et al. (2006) Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neuro 66:1248-50.
  2. Bird TD. Myotonic Dystrophy Type 1. 1999 Sep 17 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/
  3. Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. 2006 Sep 21 [Updated 2013 Jul 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncb
  4. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657–64.
  5. Liquori et al. (2001). Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Sci 293:864-7.
  6. Logigian et al. (2005) Quantitative analysis of the “warm-up” phenomenon in myotoc dysrphy type 1. Muscel Nerve 32:35-42.
  7. Sternberg D, Tabti N, Hainque B, et al. Hypokalemic Periodic Paralysis. 2002 Apr 30 [Updated 2009 Apr 28]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from
  8. Suominen et al. (2011). Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet 19: 776-82.
  9. Udd et al. (2010) Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. Neuromuscl Disord 21: 443-50.
  10. Yotova et al. (2005) Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 117:177-87.