Invitae Ectodermal Dysplasia and Related Disorders Panel
Use
The Invitae Ectodermal Dysplasia and Related Disorders Panel analyzes genes associated with disorders affecting ectodermal tissues like skin, hair, teeth, nails, and sweat glands. These conditions are genetically heterogeneous, making it challenging to use phenotype alone to identify a definitive cause. Comprehensive panel testing evaluates several potential genes for a single clinical indication, confirming a diagnosis, guiding treatment, and aiding in genetic counseling for recurrence risk assessment.
Special Instructions
Contact client services for any questions regarding limitations in the analysis of genes. The test can be customized by removing genes already tested, if desired. Ensure sufficient sample volume and follow specimen collection requirements.
Limitations
The panel achieves >99% analytical sensitivity and specificity, but certain complex structural variants (e.g., rearrangements, inversions) or variants in regions with complex architecture such as short tandem repeats may not be detected. Single-exon copy number events may also sometimes go unanalyzed due to sequence properties or data quality issues. Variants in promoter, non-coding exons, and non-coding regions are not assessed unless stated otherwise.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
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)
Other tests from different labs that may be relevant