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GPC3 Gene Sequencing & Del/Dup (Females)

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GPC3
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Carrier testing in individuals with a known familial GPC3 mutation
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:

ORDERING

Test Code:
415E
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1, 88271x10, 88291x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 759.89: Other Congenital malformation syndromes affecting multiple systems
  • 775.6: Neonatal hypoglycemia
  • 319: Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
  • 750.15: Macroglossia Congenital hypertrophy of tongue
  • 766.1: Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Lin, et al., (1999) Am. J. Hum. Genet. 83:378-381
  2. Lindsay, et al., (1997) J. Med. Genet. 34:480-483
  3. Hughes-Benzie, et al., (1996) Am. J. Hum. Genet. 66:227-234
  4. Sakazume, et al., (2007) Am. J. Med. Genet. 143A: 1703-1707
  5. Li, et al., (2001) Am. J. Hum. Genet. 102:161-168
  6. Veugelers, et al., (2000) Hum. Mol. Genet. 9:1321-1328
  7. Pilia et al., (1996) Nat Genet 12:241-247
  8. Rodriguez-Criado et al., (2005) Am J Med Genet A 138A:272-277
  9. Lapunzina (2005) Am J Med Genet C 137C:53-71
  10. Neri, et al., (1998) Am. J. Hum. Genet. 79:279-283

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