Familial Hypercholesterolemia

Forms and Documents

Test Details

APOB, LDLR, LDLRAP1, PCSK9
  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with FH
  • Differentiation of FH from acquired (non-genetic) forms of hypercholesterolemia
  • Genetic counseling and recurrence risk assessment
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J556
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81401x1, 81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Youngblom E, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.Available from: http://www.ncbi.nlm.nih.gov/books/
  2. Nordestgaard et al. (2013) European Heart Journal 34 (45):3478-90a (PMID: 23956253)
  3. Hovingh et al. (2013) European Heart Journal 34 (13):962-71 (PMID: 23416791)
  4. Robinson, et al. (2013) Journal of Managed Care Pharmacy: JMCP 19 (2):139-49 (PMID: 23461430)
  5. Sniderman et al. (2014) Journal of the American College of Cardiology 63 (19):1935-47 (PMID: 24632267)
  6. Brautbar et al. (2015) Current Atherosclerosis Reports 17 (4):491 (PMID: 25712136)
  7. Pimstone et al. (1998) Arterioscler. Thromb. Vasc. Biol. 18 (2):309-15 (PMID: 9484998)
  8. Naoumova et al. (2005) Arterioscler. Thromb. Vasc. Biol. 25 (12):2654-60 (PMID: 16224054)
  9. Fahed et al. (2011) Nutr Metab (Lond) 8 (1):23 (PMID: 21513517)
  10. Cariou et al. (2011) Atherosclerosis 216 (2):258-65 (PMID: 21596380)
  11. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {606945}: {02/2014}: World Wide Web URL: http://omim.org/
  12. Heath et al. (2001) Atherosclerosis 154 (1):243-6 (PMID: 11137106)
  13. Lombardi et al. (1998) Hum. Mutat. Suppl 1 :S172-4 (PMID: 9452078)
  14. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {107730}: {12/2013}: World Wide Web URL: http://omim.org/
  15. Hopkins et al. (2011) J Clin Lipidol 5 (3 Suppl):S9-17 (PMID: 21600530)
  16. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {607786}: {07/2013}: World Wide Web URL: http://omim.org/
  17. Cameron et al. (2008) Journal Of Internal Medicine 263 (4):420-31 (PMID: 18266662)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {605747}: {03/2014}: World Wide Web URL: http://omim.org/
  19. Michaely et al. (2004) J. Biol. Chem. 279 (32):34023-31 (PMID: 15166224)
  20. Mishra et al. (2002) Proc. Natl. Acad. Sci. U.S.A. 99 (25):16099-104 (PMID: 12451172)
  21. Wilund et al. (2002) Hum. Mol. Genet. 11 (24):3019-30 (PMID: 12417523)
  22. DeMott et al. (2008) London: National Collaborating Centre for Primary Care and Royal College of General Practitioners

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 FH
  • Differentiation of FH from acquired (non-genetic) forms of hypercholesterolemia
  • Genetic counseling and recurrence risk assessment

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J556C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Youngblom E, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.Available from: http://www.ncbi.nlm.nih.gov/books/
  2. Nordestgaard et al. (2013) European Heart Journal 34 (45):3478-90a (PMID: 23956253)
  3. Hovingh et al. (2013) European Heart Journal 34 (13):962-71 (PMID: 23416791)
  4. Robinson, et al. (2013) Journal of Managed Care Pharmacy: JMCP 19 (2):139-49 (PMID: 23461430)
  5. Sniderman et al. (2014) Journal of the American College of Cardiology 63 (19):1935-47 (PMID: 24632267)
  6. Brautbar et al. (2015) Current Atherosclerosis Reports 17 (4):491 (PMID: 25712136)
  7. Pimstone et al. (1998) Arterioscler. Thromb. Vasc. Biol. 18 (2):309-15 (PMID: 9484998)
  8. Naoumova et al. (2005) Arterioscler. Thromb. Vasc. Biol. 25 (12):2654-60 (PMID: 16224054)
  9. Fahed et al. (2011) Nutr Metab (Lond) 8 (1):23 (PMID: 21513517)
  10. Cariou et al. (2011) Atherosclerosis 216 (2):258-65 (PMID: 21596380)
  11. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {606945}: {02/2014}: World Wide Web URL: http://omim.org/
  12. Heath et al. (2001) Atherosclerosis 154 (1):243-6 (PMID: 11137106)
  13. Lombardi et al. (1998) Hum. Mutat. Suppl 1 :S172-4 (PMID: 9452078)
  14. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {107730}: {12/2013}: World Wide Web URL: http://omim.org/
  15. Hopkins et al. (2011) J Clin Lipidol 5 (3 Suppl):S9-17 (PMID: 21600530)
  16. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {607786}: {07/2013}: World Wide Web URL: http://omim.org/
  17. Cameron et al. (2008) Journal Of Internal Medicine 263 (4):420-31 (PMID: 18266662)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {605747}: {03/2014}: World Wide Web URL: http://omim.org/
  19. Michaely et al. (2004) J. Biol. Chem. 279 (32):34023-31 (PMID: 15166224)
  20. Mishra et al. (2002) Proc. Natl. Acad. Sci. U.S.A. 99 (25):16099-104 (PMID: 12451172)
  21. Wilund et al. (2002) Hum. Mol. Genet. 11 (24):3019-30 (PMID: 12417523)
  22. DeMott et al. (2008) London: National Collaborating Centre for Primary Care and Royal College of General Practitioners