Dystrophia Myotonica

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis

Ordering

818
3 weeks
2-5 mL Blood – Lavender Top Tube.
NOTE: if ordering reflex to Southern Blot analysis, 10-15 mL of blood is required for testing.
Buccal Swabs

Billing

81234x1
Yes
Yes
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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.

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis

Ordering

TG16
2 weeks
20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC
Ug DNA Concentration

Billing

81265x1; 81403x1
Yes
Yes
For price inquiries please email zebras@genedx.com

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.