Hyper-IgE Syndrome Gene Panel, Varies
Use
This test provides a comprehensive genetic evaluation for diagnosing hyper-IgE syndrome (HIES), benefiting patients with a personal or family history indicative of HIES symptoms. By detecting single nucleotide and copy number variants in 21 associated genes, it facilitates diagnosis, prognosis, clinical management, and recurrence risk assessment. The test aids in familial screening and genetic counseling, informing targeted management strategies, anticipatory guidance, and specific therapies according to the detected variant.
Special Instructions
For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge if viable cells are obtained. For cord blood specimens accompanied by maternal blood, additional maternal cell contamination studies will be performed.
Limitations
Next-generation sequencing may not detect all genetic variants relevant to hyper-IgE syndrome, especially those outside the targeted regions. The test focuses on 21 specific genes, and interpretation is limited to known associations within these genes. Some genetic variants of uncertain significance may be identified, whose clinical implications are currently unknown. Results should be correlated with clinical information for comprehensive interpretation of disease status.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed if viable cells are obtained. For cord blood specimens, if maternal blood accompanies, maternal cell contamination studies will be performed.