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.

NSD1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
NSD1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
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:
81405x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 766.1: Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
  • 319: Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
  • 759.89: Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Kurotaki et al., (2003) Hum Mutat 22:378-87
  2. Visser et al., (2005) J Med Genet 42e
  3. Waggoner et al., (2005) Genet Med 7: 524-33
  4. Saugier-Veber et al., (2007) Hum Mutat 28(11):1098-1107
  5. Douglas et al., (2005) J Med Genet 42:e56
  6. Rio et al., (2003) J Med Genet 40:436-440
  7. Cecconi et al., (2005) Am J Med Genet 134A:247-253
  8. Turkmen et al., (2003) Am J Med Genet 137C:24-31
  9. Baujat and Cormier-Daire (2007) Orph J Rare Dis 2:36
  10. Tatton-Brown and Rahman (2004) Clin Dysmorphol 13: 199-204
  11. Tatton-Brown et al., (2005) Am J Hum Genet 77: 193-204
  12. Lapunzina (2005) Am J Med Genet C 137C:53-71

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