Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome
Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome
Identifying alterations within DHCR7 allowing for predictive testing of at-risk family members
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for SLO syndrome.
Additional first tier testing may be considered/recommended. For more information see Advisory Information.
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing