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
- 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
For price inquiries please email firstname.lastname@example.org
- 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
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