Patient informs himself in diagnostic booklet

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

CeGaT receives California CLIA State License and Accreditation

CeGaT receives California CLIA State License and Accreditation – expanding diagnostic services in California. CeGaT GmbH is a CLIA certified laboratory for high complexity testing (CLIA# 99D2130225) approved by US authorities (Centers of Medicare & Medicaid Services- Clinical Laboratory Improvement Amendment Survey and Certificate Group) qualifying CeGaT to operate in 49 states or districts in […]

Aktualisierung des Panels für neuromuskuläre Erkrankungen

Deutliche Erhöhung der Sensitivität führt zu nahezu perfekter Abdeckung aller Gene. Zudem sind neue wissenschaftliche Erkenntnisse eingeflossen. Das Panel liegt nun in der Version sieben vor. Für die neue Version konnte die Sensitivität von > 98,4 % auf > 99,997 % in nicht-homologen Regionen gesteigert werden. Das Panel ist damit nahezu perfekt abgedeckt. Die Gensets des Panels […]

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Patient informs himself in diagnostic booklet

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.