Based on recent scientific findings, we have updated our Panel for Genetic Skin Diseases (DRM). It is now available in version three.
Overall, the panel now comprises 253 genes. The diagnostic sensitivity of existing gene sets has been further increased, and new differential diagnostic options have been made available. Selected gene sets on the panel have been regrouped so that more specific suspected diagnoses are represented by their own focused gene sets.
These are the most important changes:
- DRM02 has been expanded. In addition to the Hermansky-Pudlak syndrome, further albinism syndromes and differential diagnoses are now covered.
- DRM03 has been focused on hyperpigmentation.
- DRM08 has been expanded to include selective tooth agenesis.
- The gene set for tumor-associated skin diseases (DRM10) has been replaced by a new gene set focused on photodermatosis. This includes phenotypes such as Xeroderma Pigmentosum, Cockayne syndrome, COFS syndrome and related diseases.
- DRM13 has been expanded to include lipodystrophy.
- Lymphedema (DRM14) is now a separate gene set (previously part of DRM12).
Please also note our cost and time efficient large panel approach: Our Panel for Skin Diseases has 253 genes and is divided into 12 gene sets. You can order a specific gene set (for instance Albinism, DRM01, 8 genes). We always sequence all 253 genes but limit the reporting to the ordered gene set. If the disease-causing mutation is not within the ordered gene set, we can quickly expand the analysis to any desired gene set for only little additional costs.
As all of our diagnostic panels, the DRM panel includes a panel-wide deletion/duplication screening using the copy number variation (CNV) track. Our CNV-Track allows us to detect single exon deletions with a sensitivity of >81%, larger deletions of three or more exons will be detected with up to >96% sensitivity. Additionally, we validate our analysis using MLPA or qPCR, once we find deletions or duplications that are associated with the patient’s phenotypes. The del/dup analysis contributes to CeGaT’s high quality medical reports to provide you with all major analysis options available – without extra fees.