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Smith-Lemli-Opitz Screen, Plasma
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000603796.1
INHERITED DISEASEDYSMORPHOLOGYOPHTHALMOLOGY ... View more
Last updated in GTR: 2023-01-09
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Smith-Lemli-Opitz syndrome
Analytes (2): Help
7 Dehydrocholesterol; 8-dehydrocholesterol
Methods (1): Help
Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-MS)
Target population: Help
Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
SLO
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/81595#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 2
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Gas chromatography–mass spectrometry (GC-MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. Donoghue SE, et al. J Pediatr Endocrinol Metab. 2018;31(4):451-459. doi:10.1515/jpem-2017-0501. PMID: 29455191.

Target population: Help
Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
View citations (3)
  • Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. Mol Genet Metab. 2013;110(1-2):176-8. doi:10.1016/j.ymgme.2013.04.004. Epub 2013 Apr 10. PMID: 23628460.
  • Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. Donoghue SE, et al. J Pediatr Endocrinol Metab. 2018;31(4):451-459. doi:10.1515/jpem-2017-0501. PMID: 29455191.
  • Genaro-Mattos TC, Tallman KA, Allen LB, Anderson A, Mirnics K, Korade Z, Porter NA. Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis. Toxicol Appl Pharmacol. 2018;349:21-28. doi:10.1016/j.taap.2018.04.029. Epub 2018 Apr 23. PMID: 29698737.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
The plasma specimen is hydrolyzed and then extracted followed by evaporation to dryness under nitrogen. The sterols are derivatized and then analyzed using selected ion-monitoring electron impact gas chromatography-mass spectrometry to quantitate 7-dehydrocholesterol and 8-dehydrocholesterol.(Unpublished Mayo method)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 106%. Intra assay precision was performed at 3 levels: CV results ranged from 3.4%-10.5% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 4.1%-18.1% (N=20 each). The analytical measurement range varies per analyte but ranges from … View more
Assay limitations: Help
On very rare occasions, 7-dehydrocholesterol (7-DHC) is not elevated in patients with Smith-Lemli-Opitz (SLO) syndrome. Some antipsychotic or antidepressant medications such as aripiprazole and trazodone cause false elevations in 7-DHC.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.