Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

BLM Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BLM
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis or positive cytogenetic testing for sister chromatid exchange (SCE)
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
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:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 757.39: Other Accessory skin tags, congenital, Congenital scar, Epidermolysis bullosa, Keratoderma (congenital)
  • 783.43: Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
  • V84.09: Genetic susceptibility to other malignant neoplasm
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. http://bioinf.uta.fi/BLMbase/
  2. Roa, B et al., (1999) Genet Test. 3(2): 219-221.
  3. Ellis, N et al., (1995) Cell. 83:655-666.
  4. Ellis, N et al., (1994) Am J Hum Genet. 55:453-460.
  5. Hickson, I et al., (2001) Biochem Soc Trans. 29:201-204.
  6. German, J et al., (2007) Hum Mut. 28(8):743-753.
  7. Ellis, N et al., (1998) Am J Hum Genet. 63:1685-1693.

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