Invitae Campomelic Dysplasia Test
Use
The Invitae Campomelic Dysplasia Test analyzes the SOX9 gene. This gene provides instructions on making a protein that regulates the development of the skeletal system and reproductive organs. Pathogenic variants in SOX9 are associated with campomelic dysplasia (CD) and can result in abnormal development of the skeletal and reproductive systems as well as other parts of the body. A genetic diagnosis of campomelic dysplasia can guide medical management and help predict disease progression and outcome for the patient. It can also facilitate a swift uptake of treatment in the neonatal period.
Special Instructions
Not provided.
Limitations
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain structural rearrangements or variants embedded in sequence with complex architecture may not be detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
Gene
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
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