Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
Use
This test detects single nucleotide and copy number variants in the DHCR7 gene to assist in establishing a molecular diagnosis for Smith-Lemli-Opitz syndrome, guiding prognosis, clinical management, familial screening, and genetic counseling. It is particularly useful as follow-up for abnormal biochemical results suggestive of the syndrome and for predictive testing in at‑risk family members.
Special Instructions
Not provided.
Limitations
Regions of DHCR7 may not be effectively evaluated by sequencing or deletion/duplication analysis due to high GC content, homology or repetitive sequences. Some regions may fail interrogation, noted in the report. Sensitivity is >99% for SNVs, >94% for small indels (95% for deletions up to 75 bp and insertions up to 47 bp. Post‑transplant specimens from allogeneic donors may interfere—consult lab. Saliva and blood spot specimens yield lower DNA quality/quantity and may result in incomplete analysis; additional specimen may be required.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
DHCR7
Gene
LOINC Codes
- 99058-0 - DHCR7 gene Full Mut Anl Bld/T Seq
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48018-6 - Gene studied ID
- 85069-3 - Lab test method
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD); acceptable green top (sodium heparin)
Collection Instructions
Invert several times to mix blood; send in original tube; do not aliquot
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |