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NSD1 Del/Dup

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

NSD1

Disorders:

• Sotos Syndrome

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

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

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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