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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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