The Hereditary Disorders Solution (HDS) of Sophia Genetics covers the coding regions of 560 genes related to the most common hereditary diseases by NGS, allowing a complete study of the patient's genes.
The different categories of diseases include: cardiomyopathies, dystrophies, hematologic, renal, related to metabolism, etc.
It also allows the detection of SNV and Indels, and guarantees a high percentage of readings in the target and uniformity of coverage, even in regions rich in GC.
The kit uses NGS capture technology and is intended for use on Illumina platforms. The results are interpreted in the SOPHiA DDM platform, designed for the analysis and protection of NGS clinical data in routine diagnosis.
In addition to the Hereditary Disorders Solution (HDS), we have other more specific panels for clinical diagnosis in areas such as metabolism, oncology, genetics or cardiology.
| Available formats |
|---|
| 16 test |
| 32 test |
| 48 test |
