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Heritable Disorders of Connective Tissue Sequencing and Del/Dup Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
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
Disorders:
Clinical Utility:
  • 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
Lab Method:
Exon Array CGH|Next-gen Sequencing

ORDERING

Test Code:
J555
Turnaround Time:
4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL)

BILLING

CPT Codes:
81410x1, 81411x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Cardiology Billing Policy
* 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; 1993-2015.

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