Danon Disease

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

ABCC9, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, ILK, LAMA4, LAMP2, LDB3, LMNA, MIB1, MTND1, MTND5, MTND6, MTTD Mitochondrial, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PRDM16, RAF1, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with DCM/LVNC
  • Differentiation of hereditary DCM from acquired (non-genetic) causes of DCM/LVNC
  • Recurrence risk calculation
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J554
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  1. Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: {115200; 604169}: {04/21/2015; 09/04/2013}: World Wide Web URL: http://omim.org/
  2. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://w
  3. Callis et al. (2010) Expert review of molecular diagnostics 10(3):329-351 (PMID: 20370590)
  4. Bennett et al. (2016) Cardiology Research and Practice 2016:5172308 (PMID: 26881173)
  5. Rooms et al. (2015) Acta Cardiol 70 (6):625-31 (PMID: 26717209)
  6. Hershberger RE, Kushner JD, Parks SB. Dilated Cardiomyopathy Overview. GeneReviews. 2008. www.genetests.orgHunt et al. (2005) Circulation 112(12):e154-235 (PMID: 16160202)
  7. Herman et al. (2012) The New England Journal Of Medicine 366 (7):619-628 (PMID: 22335739)

Forms and Documents

Test Details

ACTC1, ACTN2, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies, such as Fabry Disease and Amyloidosis
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J553
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

References

  1. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.n
  2. Bennett S. Pharmacogenomics. 2004;5(4):433-8 (PubMed: 15165179)Maron et al. (2003) J. Am. Coll. Cardiol. 41 (6):974-80 (PMID: 12651044)
  3. Sekijima Y, Yoshida K, Tokuda T, et al. Familial Transthyretin Amyloidosis. 2001 Nov 5 [Updated 2012 Jan 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Availab
  4. D\'souza et al. (2014) Circulation. Heart Failure 7 (5):843-9 (PMID: 25228319)
  5. Mehta A, Hughes DA. Fabry Disease. 2002 Aug 5 [Updated 2013 Oct 17]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/book
  6. Dominic et al. (2014) Heart (British Cardiac Society) 100 (8):611-8 (PMID: 24449718)
  7. Friedrich et al. (2012) Human Molecular Genetics 21 (14):3237-54 (PMID: 22523091)
  8. B. Maron, M. Maron, & Semsarian (2012) J. Am. Coll. Cardiol. 60 (8):705-15 (PMID: 22796258)
  9. Frey, Luedde, & Katus (2012) Nature Reviews. Cardiology 9 (2):91-100 (PMID: 22027658)
  10. Ingles et al. (2015) Circ Cardiovasc Genet 8 (6):852-9 (PMID: 26671970)
  11. Hershberger et al. (2009) Journal Of Cardiac Failure 15 (2):83-97 (PMID: 19254666)
  12. Stenson et al. (2014) Human genetics 133 (1):1-9 (PMID: 24077912)
  13. Pan et al. (2012) Circulation. Cardiovascular Genetics 5 (6):602-10 (PMID: 23074333)
  14. Van Rijsingen et al. (2009) Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation 17 (12):458- 63 (PMID: 20087448)
  15. Girolami et al. (2010) Journal Of The American College Of Cardiology 55 (14):1444-53 (PMID: 20359594)
  16. Gersh et al. (2011) Circulation 124 (24):2761-96 (PMID: 22068435)
  17. Olson et al. (2002) Circulation 105 (20):2337-40 (PMID: 12021217)

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies, such as Fabry Disease and Amyloidosis

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J553C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Cirino AL, Ho C. Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2014 Jan 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.n
  2. Bennett S. Pharmacogenomics. 2004;5(4):433-8 (PubMed: 15165179)Maron et al. (2003) J. Am. Coll. Cardiol. 41 (6):974-80 (PMID: 12651044)
  3. Sekijima Y, Yoshida K, Tokuda T, et al. Familial Transthyretin Amyloidosis. 2001 Nov 5 [Updated 2012 Jan 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Availab
  4. D\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'souza et al. (2014) Circulation. Heart Failure 7 (5):843-9 (PMID: 25228319)
  5. Mehta A, Hughes DA. Fabry Disease. 2002 Aug 5 [Updated 2013 Oct 17]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/book
  6. Dominic et al. (2014) Heart (British Cardiac Society) 100 (8):611-8 (PMID: 24449718)
  7. Friedrich et al. (2012) Human Molecular Genetics 21 (14):3237-54 (PMID: 22523091)
  8. B. Maron, M. Maron, & Semsarian (2012) J. Am. Coll. Cardiol. 60 (8):705-15 (PMID: 22796258)
  9. Frey, Luedde, & Katus (2012) Nature Reviews. Cardiology 9 (2):91-100 (PMID: 22027658)
  10. Ingles et al. (2015) Circ Cardiovasc Genet 8 (6):852-9 (PMID: 26671970)
  11. Hershberger et al. (2009) Journal Of Cardiac Failure 15 (2):83-97 (PMID: 19254666)
  12. Stenson et al. (2014) Human genetics 133 (1):1-9 (PMID: 24077912)
  13. Pan et al. (2012) Circulation. Cardiovascular Genetics 5 (6):602-10 (PMID: 23074333)
  14. Van Rijsingen et al. (2009) Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation 17 (12):458- 63 (PMID: 20087448)
  15. Girolami et al. (2010) Journal Of The American College Of Cardiology 55 (14):1444-53 (PMID: 20359594)
  16. Gersh et al. (2011) Circulation 124 (24):2761-96 (PMID: 22068435)
  17. Olson et al. (2002) Circulation 105 (20):2337-40 (PMID: 12021217)

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with a hereditary cardiovascular condition

Customizable Cardiology Panel

  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J779
4 weeks

Billing

Varies by gene
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with DCM/LVNC
  • Differentiation of hereditary DCM from acquired (non-genetic) causes of DCM/LVNC
  • Recurrence risk calculation

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J554C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1, 81407x2
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: {115200; 604169}: {04/21/2015; 09/04/2013}: World Wide Web URL: http://omim.org/
  2. Hershberger RE, Morales A. Dilated Cardiomyopathy Overview. 2007 Jul 27 [Updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://w
  3. Callis et al. (2010) Expert review of molecular diagnostics 10(3):329-351 (PMID: 20370590)
  4. Bennett et al. (2016) Cardiology Research and Practice 2016:5172308 (PMID: 26881173)
  5. Rooms et al. (2015) Acta Cardiol 70 (6):625-31 (PMID: 26717209)
  6. Hershberger RE, Kushner JD, Parks SB. Dilated Cardiomyopathy Overview. GeneReviews. 2008. www.genetests.orgHunt et al. (2005) Circulation 112(12):e154-235 (PMID: 16160202)
  7. Herman et al. (2012) The New England Journal Of Medicine 366 (7):619-628 (PMID: 22335739)