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 disability.read more
Tests Available
By gene: DHCR7
Next Generation Sequencing
$900
Test Code: 2439
|
Deletion / Duplication
$900
Test Code: 2443
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2444
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Test Details
Technical Information
Genes:
DHCR7
Billing
CPT Codes:
81405 x 1
Ordering
SKU:
2439 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.