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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:
84311x1, 88271x10, 88291x1
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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