Emery-Dreifuss Muscular Dystrophy (EDMD)

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.

Forms and Documents

Test Details

B3GALNT2, B3GNT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, LMNA, POMGNT1, POMT1, POMT2, TMEM5, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

891
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  1. Stevens, E., et al. (2013) Am. J. Hum. Genet. 92: 354-365, 2013. (PubMed: 23453667).
  2. Dinçer, P., et al. (2003). Neuromuscular Disord. 13, 771-778.
  3. Yang, A.C., et al. (2013). Mol. Genet. Metab. 110, 345-351.
  4. Barone, R., et al. (2012). Ann. Neurol. 72, 550-558.
  5. Wicklund, M.P. (2013). Continuum (Minneap Minn) 19, 1535-1570.
  6. Clement, E.M., et al. (2012). Neuromuscular Disord. 22, 522-527.
  7. Saito, K. (2012 May 10). Fukuyama Congenital Muscular Dystrophy. in: Pagon RA, Adam MP, Ardinger HH, Et Al., Editors. GeneReviews®
  8. Pegoraro, E., Hoffman, E.P. (2012 Aug 30). Limb-Girdle Muscular Dystrophy Overview - GeneReviews®
  9. Chang, W., et al. (2009). Prenat. Diagn. 29, 560-569.
  10. Godfrey, C., et al. (2011). Curr. Opin. Genet. Dev. 21, 278-285.

Forms and Documents

Test Details

ACTA1, BICD2, CFL2, CHKB, COL6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, KBTBD13, LAMA2, LMNA, MEGF10, MTM1, NEB, RYR1, SEPN1, SYNE1, TNNT1, TPM2, TPM3
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

892
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1, 81407x2, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Agrawal, et al. (2007). Am. J. Hum. Genet. 80, 162-167.
  2. Ockeloen, C.W., et al. (2012). Neuromuscular Disord. 22, 632-639.
  3. Mitsuhashi, S., Nishino, I. (2013). Curr. Opin. Neurol. 26, 536-543.
  4. Butterfield, R.J., et al. (2013). Hum. Mutat. 34, 1558-1567.
  5. Wicklund, M.P. (2013). Continuum (Minneap Minn) 19, 1535-1570.
  6. Clement, et al. (2012). Neuromuscular Disord. 22, 522-527. 7
  7. Yis, et al. (2011). Neuromuscular Disord. 21, 20-30.
  8. Anonymous Limb-Girdle Muscular Dystrophy Overview - GeneReviews® - NCBI Bookshelf, http://www.ncbi.nlm.nih.gov/books/NBK1408/.
  9. Saito, Fukuyama Congenital Muscular Dystrophy-GeneReviews® - NCBI Bookshelf, http://www.ncbi.nlm.nih.gov/books/NBK1206/.
  10. Godfrey, et al. (2011). Curr. Opin. Genet. Dev. 21, 278-285.