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Athena #737 Smith-Lemli-Opitz Syndrome (DHCR7) DNA Sequencing
Test Code737
CPT Codes
81405(1)
Preferred Specimen
whole Blood
Minimum Volume
5 mL
Transport Container
lav(EDTA)
Transport Temperature
Room Temp
Specimen Stability
Refrigerated
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
freezing
Methodology
DNA Sequencing
Report Available
21-28 days
Reference Range
No mutations detected
Clinical Significance
"Type of Disorder: Intellectual disability
Typical Presentation: Growth retardation, microcephaly, moderate to severe intellectual disability and multiple malformations.
Indications for Testing: Elevated serum concentration of 7-dehydrocholesterol (7-DHC) although some affected individuals may still be in normal range.
Disease(s) tested for: Developmental disability
Detects point mutations in the DHCR7 gene"
Typical Presentation: Growth retardation, microcephaly, moderate to severe intellectual disability and multiple malformations.
Indications for Testing: Elevated serum concentration of 7-dehydrocholesterol (7-DHC) although some affected individuals may still be in normal range.
Disease(s) tested for: Developmental disability
Detects point mutations in the DHCR7 gene"
