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Prenatal CHD7 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CHD7
Disorders:
Clinical Utility:
  • Full gene sequencing for fetuses with prenatal ultrasound findings suggestive of CHARGE syndrome
  • Mutation-specific testing for fetuses with a family history of a known CHD7 mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
2262
Turnaround Time:
2-3 weeks
Preferred Specimen:
20 mL Amniotic Fluid
Alternative Specimen:
20 mg CVS, 2 T25 flasks of cultured amniocytes, 2 T25 flasks of cultured chorionic villi 

BILLING

CPT Codes:
81407x1, 81265x1, 88235x1
List Price:
$4,400.00
Billing Information:
View Prenatal Billing Policy
ICD Codes:
  • 655.83: Other known or suspected fetal abnormality, not elsewhere classified
  • 655.23: Hereditary disease in family possibly affecting fetus

REFERENCES

  1. Stromland et al., (2005) Am J Med Genet 133A:331-339
  2. Vissers et al., (2004) Nat Genet 36:955- 957
  3. Jongmans et al., (2006) J Med Genet 43:306-314
  4. Lalani et al., (2006) Am J Hum Genet 78:303-314

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