Occipital Horn Disease

Forms and Documents

Test Details

AARS, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1 (C2ORF23), SBF2, SCN9A, SH3TC2, SLC12A6, SLC52A2, SPTLC1, SPTLC2, TFG, TRPV4, TTR, WNK1, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

737
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81325x1, 81404x1, 81405x4, 81406x4
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Rotthier et al. (2012). Nat Rev Neurol 8: 73-85.
  2. McLaughlin et al. (2012) Hum Mutat 33(1): 244-253.
  3. Claeys et al. (2009) Brain 132:1741-1752.
  4. Harms et al. (2012) Neurol 78:1741-1720.
  5. Poirier et al. (2013) Nat Genet 45(6): 639.
  6. Bird (Updated March 2015). CharcotMarie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
  7. Bird (Updated March 2015). CharcotMarie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  8. Saporta et al. (2011) Ann Neurol 69(1): 22-33
  9. Siskind et al. (2013) J Genet Counsel 22: 422-436.
  10. Capponi et al. (2011) J Peripheral Nervous System 16: 287-294.
  11. Irobi et al. (2004) Hum Molec Genet 13(2): R195-R202.
  12. Bird (Updated April 2015). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org..
  13. Weterman et al. (2012) Hum Molec Genet 21(2): 358-370.
  14. Guernsey et al. (2010) PLoS Genetics 6(8): 1-7.
  15. Reilly et al. (2011) J Periph Nervous System 16: 1-14.
  16. Baets et al. (2011) Brain 134: 2664-2676.
  17. Vallat et al. (2013). Curr Opin Neurol 26(5): 473-480.
  18. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33
  19. Kim and Kim (Updated June 2013). Charcot-Marie-Tooth Neuropathy X Type 5 In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  20. Davidson et al. (2012) J Neurol 259: 1673-1685.
  21. Azzedine, Bontoux, and LeGuern (Updated July 2010). Charcot-Marie-Tooth Neuropathy Type 4C. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http:/
  22. Moizard et al. (2010) Clin Genet 79(3): 243-253.
  23. Ito (Updated June 2012). BSCL2-Related Neurologic Disorders/Seipinopathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
  24. Blumen et al. (2012) Ann Neurol 71: 509-519.
  25. Kuhlenbaumer G, Timmerman V, Bomont P (Updated June 2012). Giant Axonal Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.gen
  26. Mehta (Updated March 2011). Fabry Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  27. Guenther et al. (2007) Hum Mut 28(8): 808-815.
  28. Rossor et al. (2012) J Neurol Neurosurg Psychiatry 83: 6-14.
  29. Kim et al. (2013) Orphanet J Rare Dis 8:104
  30. Zuchner et al. (2006) Am J Hum Genet 79(2): 365- 369.
  31. Beetz et al. (2012) Am J Hum Genet 91: 139-145.
  32. Howard et al. (2002) Nat Genet 32: 384-392
  33. Ishiura et al. (2012) Am J Hum Genet 91: 320-329.
  34. Sekijima et al (Updated January 2012). Familial Transthyretin Amyloidosis. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
  35. Durr et al. (2004) Arch Neurol 61: 1867-1872
  36. Guelly et al. (2011) Am J Hum Genet 88:99-105
  37. Klein (Updated May 2012) DNMT1- Related Dementia, Deafness, and Sensory Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.gen
  38. Auer-Grumbach et al. (2006) NeuroMolecular Medicine 8: 147-159.
  39. Riviere et al. (2011). Am J Hum Genet 89: 219-230.
  40. Faber et al. (2012) Ann Neurol 71(1): 26-39.
  41. Rotthier et al. (2010) Am J Hum Genet 87: 513-522.
  42. Lo Giudice et al. (2014) Exp Neurol 25: 518-39.
  43. Horga et al. (2015) J. Neurol. 262 (8):1984-6 (PMID: 26194197)
  44. Foley et al. (2014) Brain : A Journal Of Neurology 137 (Pt 1):44-56 (PMID: 24253200)
  45. Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985)
  46. Goizet et al. (2009) Human Mutation 30 (2):E376-85 (PMID: 18853458)
  47. Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158).

Forms and Documents

Test Details

ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, CBS, CHST14, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J555
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81410x1, 81411x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Murphy-Ryan M et al. (2010) Genet Med 12(6):344-54 (PMID: 20467323)
  2. Alazami AM et al. (2016) Hum Genet 135(5):525-40 (PMID: 27023906)
  3. Bradley TJ et al. (2016) Can J Cardiol 32(1):86-99 (PMID: 26724513)
  4. Weerakkody et al. (2016) Genet Med [Epub ahead of print] (PMID: 27011056)
  5. Ziganshin et al. (2015) Ann Thorac Surg 100(5):1604-11 (PMID: 26188975)
  6. Milewicz DM, Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 [Updated 2012 Jan 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  7. Guo et al. (2015) Am J Hum Genet 96 (1):170-7 (PMID: 25557781)
  8. Barbier et al. (2014) Am J Hum Genet 95(6):736-43 (PMID: 25434006)
  9. Callewaert B et al. Arterial Tortuosity Syndrome. 2014 Nov 13. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  10. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008 Feb 28 [updated 2013 Jul 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  11. Pepin MG et al. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [updated 2015 Nov 19] In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  12. Merla et al. (2012) Circ Cardiovasc Genet 5(6):692-6 (PMID: 23250899)
  13. Beighton P et al. (1998) Am J Med Genet 77(1):31-7 (PMID: 9557891)
  14. Doyle AJ et al. (2012) Nat Genet 44(11):1249-54 (PMID: 23023332)
  15. Sadiq MA, Vanderveen D. (2013) Semin Ophthalmol 28(5-6):313-20 (PMID: 24138040)
  16. Guo et al. (2007) Nat Genet 39(12):1488-93 (PMID: 17994018)
  17. Al-Hussain H et al. (2004) Am J Med Genet 124A(1):28-34 (PMID: 14679583)
  18. Acke FR et al. (2012) Orphanet J Rare Dis 7:84 (PMID: 23110709)
  19. Baumann et al. (2012) Am J Hum Genet 90(2):201-16 (PMID: 22265013)
  20. Chen MH, Walsh CA. FLNA-Related Periventricular Nodular Heterotopia. 2002 Oct 8 [updated 2015 Sep 17]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  21. Greally MT. Shprintzen-Goldberg Syndrome. 2006 Jan 13 [updated 2013 Jun 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  22. Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. 2004 Jan 15 [updated 2014 Nov 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-201

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

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorder
  • Genetic counseling and recurrence risk determination

Customizable Cardiology Panel

  • ExonArray CGH
  • Next-Gen Sequencing

Ordering

J555C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81410x1, 81411x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Murphy-Ryan M et al. (2010) Genet Med 12(6):344-54 (PMID: 20467323)
  2. Alazami AM et al. (2016) Hum Genet 135(5):525-40 (PMID: 27023906)
  3. Bradley TJ et al. (2016) Can J Cardiol 32(1):86-99 (PMID: 26724513)
  4. Weerakkody et al. (2016) Genet Med [Epub ahead of print] (PMID: 27011056)
  5. Ziganshin et al. (2015) Ann Thorac Surg 100(5):1604-11 (PMID: 26188975)
  6. Milewicz DM, Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. 2003 Feb 13 [Updated 2012 Jan 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  7. Guo et al. (2015) Am J Hum Genet 96 (1):170-7 (PMID: 25557781)
  8. Barbier et al. (2014) Am J Hum Genet 95(6):736-43 (PMID: 25434006)
  9. Callewaert B et al. Arterial Tortuosity Syndrome. 2014 Nov 13. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  10. Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008 Feb 28 [updated 2013 Jul 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  11. Pepin MG et al. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [updated 2015 Nov 19] In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  12. Merla et al. (2012) Circ Cardiovasc Genet 5(6):692-6 (PMID: 23250899)
  13. Beighton P et al. (1998) Am J Med Genet 77(1):31-7 (PMID: 9557891)
  14. Doyle AJ et al. (2012) Nat Genet 44(11):1249-54 (PMID: 23023332)
  15. Sadiq MA, Vanderveen D. (2013) Semin Ophthalmol 28(5-6):313-20 (PMID: 24138040)
  16. Guo et al. (2007) Nat Genet 39(12):1488-93 (PMID: 17994018)
  17. Al-Hussain H et al. (2004) Am J Med Genet 124A(1):28-34 (PMID: 14679583)
  18. Acke FR et al. (2012) Orphanet J Rare Dis 7:84 (PMID: 23110709)
  19. Baumann et al. (2012) Am J Hum Genet 90(2):201-16 (PMID: 22265013)
  20. Chen MH, Walsh CA. FLNA-Related Periventricular Nodular Heterotopia. 2002 Oct 8 [updated 2015 Sep 17]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  21. Greally MT. Shprintzen-Goldberg Syndrome. 2006 Jan 13 [updated 2013 Jun 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
  22. Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. 2004 Jan 15 [updated 2014 Nov 13]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-201