Smith-Lemli-Opitz syndrome (SLOS; MIM 270400) is an autosomal recessive disorder characterized by multiple congenital anomalies and intellectual deficit. The severity and the symptoms can vary from minor physical and learning problems to major physical abnormalities and severe intellectual more

Tests Available

By gene: DHCR7
Next Generation Sequencing
Test Code: 2439
Deletion / Duplication
Test Code: 2443
NGS/Del Dup Comprehensive
Test Code: 2444

Test Details

Technical Information
CPT Codes: 
81405 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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