In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and will resume our normal work schedule on Saturday, November 29, 2014. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
Prenatal DHCR7 Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Full gene sequencing for fetuses with increased 7-DHC levels measured in amniotic fluid or CVS tissue.
- In the case of ultrasound findings and/or abnormal maternal serum screening suggestive of SLOS and no family history, prenatal measurement of 7-DHC levels is recommended as a first step.
- Mutation-specific testing for fetuses with a family history of two known DHR7 mutations.
- Lab Method:
- Capillary Sequencing
- Test Code:
- 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
- CPT Codes:
- 81405x1, 81265x1, 88235x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Prenatal Billing Policy
- ICD Codes:
- 655.83: Other known or suspected fetal abnormality, not elsewhere classified
- 796.5: Abnormal finding on antenatal screening
- 655.23: Hereditary disease in family possibly affecting fetus
- Witsch-Baumgartner et al., (2000) Am J Hum Genet 66:402-412
- Correa-Cerro et al., (2005) Mol Gen Metab 84:112-26;
- Yu, H. and Patel, S.B., (2005) Clin Genet 68:383-91
- Goldenberg A, et al., Am J Med Genet A. 2004; 124: 423–6.
- Rossiter et al., (1995) Am J Med Genet 56:272-5.
- Irons, M. (Updated [Oct. 24, 2007]) Smith-Lemli-Opitz Syndrome In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org