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DHCR7 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
DHCR7
Disorders:
Clinical Utility:
  • 1. Confirmation of a suspected clinical diagnosis
  • 2. Carrier testing in siblings or other relatives
  • 3. Prenatal molecular diagnosis in the following situations: (1) the two disease-causing mutations in the DHCR7 gene are known, (2) clarification of indeterminate biochemical test results. In the case of prenatal ultrasound findings suggestive of SLOS and no family history, biochemical testing is preferable.
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL)

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
* For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
ICD-9 Codes:
  • 759.89: Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Witsch-Baumgartner et al., (2000) Am J Hum Genet 66:402-412
  2. Correa-Cerro et al., (2005) Mol Gen Metab 84:112-26
  3. Yu, H. and Patel, S.B., (2005) Clin Genet 68:383-91

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