Duchenne Muscular Dystrophy (DMD)

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.

Forms and Documents

Test Details

ACTA1, ANO5, ATP2A1, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3, LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5, POMGNT1, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4, TTN, UBA1, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

889
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x4, 81407x3, 81408x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Agrawal, et al. (2007). Am. J. Hum. Genet. 80, 162-167.
  2. Van der Kooi, A.J., et al. (2013). Neuromuscular Disord. 23, 456-460.
  3. Mitsuhashi, S., Kang, P.B. (2012). Semin. Pediatr. Neurol. 19, 211-218.
  4. Voermans, N.C., et al. (2012). Neuromuscular Disord. 22, 944-954.
  5. Stevens, E., et al. (2013) Am. J. Hum. Genet. 92: 354-365, 2013. (PubMed: 23453667)
  6. Hayashi, Y.K. (2011). Brain Nerve 63, 1179-1188.
  7. Olivé, M., et al. (2013). Curr. Opin. Neurol. 26, 527-535.
  8. Biancalana, et al. (2012). Eur. J. Hum. Genet. 20, 1101.
  9. Statland, J.M., Barohn, R.J. (2013). CONTINUUM Lifelong Learn. Neurol. 19, 1598-1614.
  10. Jungbluth, H., Wallgren-Pettersson, C. (2013). Emery and Rimoin\\\\\\\'s Principles and Practice of Medical Genetics, 1-51.