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MVK Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
MVK
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis
  • 2. To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • 3. Recurrence risk
  • 4. Carrier testing in at-risk family members
  • 5. Prenatal diagnosis
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 288: Neutropenia Decreased, Absolute Neutrophil Count (ANC); Use additional code for any associated: fever (780.61), mucositis (478.11, 528.00-528.09, 538, 616.81) (776.7)
  • 277.3: Amyloidosis
  • 279.4: Autoimmune disease, not elsewhere classified
  • 277.31: Familial Mediterranean fever, Benign paroxysmal peritonitis, Hereditary amyloid nephropathy, Periodic familial polyserositis, Recurrent polyserositis
  • 713.7: Other general diseases with articular involvement Code first underlying disease, as: amyloidosis (277.30-277.39), familial Mediterranean fever (277.31) sarcoidosis (135)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. OMIM, Online Mendelian Inheritance in Man, (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), http://www.ncbi.nlm.nih.gov/omim/; Aksentijevich et al., (1999) Am J Hum Genet 64:949-962
  2. Touitou (2001) Eur J Hum Genet 9:473-483
  3. Aksentijevich et al., (2001) Am J Hum Genet 69:301-314
  4. Bennett S. Pharmacogenomics. 2004;5(4):433-8, Booty et al., (2009) Arth Rheum 60:1851-1861
  5. Dode et al., (2002) Arth Rheum 46:2181-2188
  6. Aganna et al., (2003) Arth Rheum 48:2632-2644
  7. Cuisset et al., (2001) Eur J Hum Genet 9:260-266
  8. Mandey et al., (2006) Hum Mutat 27:796-802
  9. D’Osualdo et al., (2005) Eur J Hum Genet 13:314-320
  10. Aksentijevich et al., (2007) Arth Rheum 56:1273-1285
  11. Dale et al., (2000) Blood 96:2317-2322
  12. Bellanne-Chantelot (2004) Blood 103: 4119-4125
  13. Horwitz, M. (1999) Nat Gen 23:433-436
  14. Wise et al,, (2002) Hum Mol Genet 11:961-969
  15. Shoham et al,, (2003) PNAS 100:13501-13506
  16. El-Shanti et al., (2007) Clin Ortho Rel Res 462:11-19

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