Dystrophinopathies

Forms and Documents

Test Details

DMD
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Recurrence risk
  • Assist with management/treatment decisions
  • Next-Gen Sequencing

Ordering

786
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Aartsma-Rus et al. (2006) Ann N Y Acad Sci. 1082:74–6.
  2. Barbujani et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990: 84: 522-6.
  3. Bennett (2004) Pharmacogenomics. 5(4):433-8.
  4. Bushby et al., (1991) Lancet (337):1022–4.
  5. Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
  6. Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
  7. del Gaudio et al., Hum Mutat 2008 29:1100-1107. PMID 18752307
  8. Dooley et al. (2010) Clin Pediatr (Phila) 49:177–9.
  9. Flanigan et al. (2003) Am J Hum Gen 72: 931-945.Hershberger et al. (Updated [3/2009]). Dilated Cardiomyopathy Overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online).
  10. Tangsrud & Halvorsen (1989) Acta Paediatr Scand. 78:100–3.
  11. Tuffery-Giraud et al. (2009) Am J Hum Gen 30:934-945.

Forms and Documents

Test Details

DMD
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Recurrence risk
  • Assist with management/treatment decisions
  • Exon Array CGH

Ordering

787
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81161x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Aartsma-Rus et al. (2006) Ann N Y Acad Sci. 1082:74–6.
  2. Barbujani et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990: 84: 522-6.
  3. Bennett (2004) Pharmacogenomics. 5(4):433-8.
  4. Bushby et al., (1991) Lancet (337):1022–4.
  5. Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
  6. Darras et al. Dystrophinopathies. 2000 Sep 5 [Updated 2011 Nov 23]. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available at http://www.genetests.org.
  7. del Gaudio et al., Hum Mutat 2008 29:1100-1107. PMID 18752307
  8. Dooley et al. (2010) Clin Pediatr (Phila) 49:177–9.
  9. Flanigan et al. (2003) Am J Hum Gen 72: 931-945.Hershberger et al. (Updated [3/2009]). Dilated Cardiomyopathy Overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online).
  10. Tangsrud & Halvorsen (1989) Acta Paediatr Scand. 78:100–3.
  11. Tuffery-Giraud et al. (2009) Am J Hum Gen 30:934-945.