Test Catalog

Test ID: DHCRZ    
Smith Lemli Optiz, DHCR7 Gene, Full Gene Analysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 1 gene associated with Smith Lemli Opitz (SLO) syndrome.


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 Ordering Guidance.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

DHCR7 Gene, Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

NextGen Sequencing Test
Smith Lemli Opitz (SLOS)