Whole genome sequencing (WGS) provides the most comprehensive genetic testing available for the detection of rare diseases. It identifies more different types of DNA sequence variation and offers greater sensitivity than any other technology available. It is the superior way to diagnose genetically complex and undiagnosed diseases with the highest level of certainty.
Articles on Whole Genome Sequencing
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Manifestation and Progression of an Ultra-Rare Disorder
Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed at CENTOGENE with an ultra-rare condition termed ‘Congenital Disorder of Deglycosilation,’ was…
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Consanguinity and Recessive Disorders
High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological…
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Genetics of the Blood-Brain Barrier
Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were recently shown to result in brain calcification.
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Niemann-Pick tipo C: Dos genes – muchos cuadros clínicos – un biomarcador unificador
Mira nuestro webinar sobre Niemann-Pick tipo C, un raro trastorno genético progresivo caracterizado por la incapacidad del cuerpo para transportar el colesterol y otras sustancias grasas (lípidos) dentro de las células.
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Niemann-Pick Type C: Two Genes - Many Clinical Pictures - One Unifying Biomarker
Watch our webinar “Niemann-Pick type C: Two Genes – Many Clinical Pictures – One Unifying Biomarker” hosted by Prof. Peter Bauer. Throughout the webinar, he will provide an overview of this rare genetic disorder and discuss diagnostic methods, such as biomarkers, whole exome sequencing, whole genome…