Hypohidrotic Ectodermal Dysplasia: Deletion/Duplication Panel
Test Code: 1181
Turnaround time: 3 weeks
Most cases of hypohidrotic ectodermal dysplasia are thought to be caused by mutations in the EDA, EDAR, and EDARADD. These genes produce proteins that form part of a signaling pathway critical for the interaction between the ectoderm and mesoderm cell layers. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.
Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern. EDAR mutations can have an autosomal dominant or autosomal recessive inheritance pattern, while EDARADD mutations have an autosomal recessive inheritance pattern.
The test is indicated for:
- Individuals with a clinical or suspected diagnosis of hypohidrotic ectodermal dysplasia.
Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.
Please note that a “backbone” of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off- target copy number variants causative of disease may be identified that may or may not be related to the patient’s phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements: In EDTA (purple top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements: In microtainer: 10 μg
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Hypohidrotic Ectodermal Dysplasia: Sequencing Panel