Ectodermal Dysplasia Panel
Use
This test is designed for individuals with features suggestive of hypohidrotic ectodermal dysplasia or cleft lip/palate-ectodermal dysplasia. It is also intended for individuals who have a family member with a known or suspected diagnosis of these conditions without previous genetic testing or without access to specific variant information from a genetically confirmed family member.
Special Instructions
This test requires ordering through a healthcare provider and involves genetic counseling to explain the risks, benefits, and limitations of the genetic testing. It requires a completed online order or paper test requisition form and labeled specimen to initiate testing.
Limitations
The test does not guarantee the detection of all genetic causes of ectodermal dysplasia because only the genes included in this panel can be analyzed. Variants outside the targeted gene regions, variants in regulatory regions, or large genomic rearrangements may not be detected. Interpretation of the results depends on the quality and completeness of the provided clinical information.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided