Invitae Congenital Ichthyosis Panel
Use
The Invitae Congenital Ichthyosis Panel analyzes genes associated with congenital or early onset ichthyosis and related skin diseases characterized by thick, dry, scaly, and/or reddened skin, a collodion membrane, or palm and sole thickening at birth or in early childhood. This test aids in confirming a diagnosis, guiding treatment, and management, and assessing recurrence-risk and genetic counseling by identifying disease-causing variants.
Special Instructions
Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic heterogeneity makes it difficult to use phenotype as the sole criterion for diagnosis. Any limitations in gene analysis will be listed in the report. Customize this test by clicking genes to remove them.
Limitations
The analysis covers clinically important regions but not all possible genetic variations. Sensitivity for certain structural rearrangements and complex sequences may be reduced. Not all non-coding regions are included. Sequence changes in less accessible genomic areas may not be guaranteed. In rare cases, analyzed DNA may not represent the constitutional genome due to conditions like hematolymphoid neoplasm or bone marrow transplant.
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
3 mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)