Updated: Jun 30, 2020
What is Hereditary Rare Disease Panel Test?
Hereditary Rare Disease Panels select dozes to hundreds of genes related to each specific rare disease and analyze them using NGS technique.
Unlike Exome Sequencing, the number of genes to be analyzed is small. Hence the same sequence can be analyzed several times, enhancing the sensitivity and specificity of the test. Only the genes related to the disease are selectively tested, allowing for faster interpretation and result.
This test is suitable for the diagnosis of genetic diseases in which multiple genes are involved in one disease. NGS panel is highly accurate and relatively inexpensive test that selectively analyze dozens of genes associated with specific disease and symptoms.
※ Mitochondrial genome is not covered.
When do we need NGS Panel Test?
If the symptoms are relatively obvious, and a certain disease is suspected
When there are many genes that cause a suspected disease, it is difficult to test them all with a single genetic test
When checking genetic variation associated to suspected disease with relatively low cost.
Limitations of NGS Panel Test
Mitochondrial disease Cannot be Detected
Gene rearrangement Cannot be Detected
Triplet repeat disease Cannot be Detected (Spinocerebellar ataxia, Huntington, Fragile X syndrome etc.)
False positive due to homopolymeric region
Large deletion/ duplication Partially Detected
Peudogene may be hard to detect.
Gene exon region of up to ±~20bp can be analyzed
GC Genome's NGS Panel Test List
GC Genome currently offers below list of panels.
New panels are continuously being developed and Added on to the list.
If you wish to inquire about a panel that is not on the list or has need for specific panel, please drop us an email through Contact Us. GC Genome is happy to listen to the need of physicians and patients to direct our R&D efforts.
Download the required documents through the link below!
This test can be performed upon request from a medical doctor.
#NGS#Panel#NGS Panel#Gene Panel#Hereditary rare disease#Rare Diseases#Diagnosis