Fabry Disease

Males with Fabry disease have attacks of abdominal pain and arthralgia. Vascular skin lesions (angiokeratoma) are frequent, and vascular lesions may also occur elsewhere, including ocular fundi and kidney. Whorl-like corneal dystrophy is not uncommon. Neurological symptoms include autonomic dysfunction, orthostatic hypotension, and acroparasthesia. Angina, exercise intolerance and EKG changes occur, often with normal coronary arteries, heart size and hemodynamics, although left ventricular wall and septal hypertrophy are not infrequent. Respiratory complications include chronic airflow obstruction. Ultimately, renal failure may cause death. Females who harbor a mutation in the GLA gene may have manifestations of the disorder, including renal, cardiac and cerebrovascular involvement, angiokeratomas and corneal epitheliopathy. Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme alpha-galactosidase A.

Tests Available

Forms and Documents

Test Details

GLA
  • Confirmation of a clinical diagnosis
  • Mutation detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2321
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
Yes
Yes
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. MacDermot KD et al., J Med Genet 38:769-775 (2001)
  2. Barranger, JA & O’Rourke, E 10(1):9-15 (2002)
  3. Bennett RL et al., J of Genetic Counseling, 11(2):121-146 (2002)
  4. Schafer et al., Hum Mutat 25(4):412 (2005)
  5. Gupta et al., Medicine 84(5):261-268 (2005)

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

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