Diagnosis through genetic testing can strongly help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering with suspected genetic metabolic disorders. With knowledge of variants in over 1,250 metabolic disease genes, our rapid testing and extensive experience of metabolic disease genetics can help you diagnose and manage your patients’ metabolic disorder quickly and correctly. Ultimately this can provide new insights into treatment options and predict the likelihood of passing the inherited condition on to offspring or the presence of it elsewhere in the family.
Articles on Metabolic Disorders
The goal of the study is to validate this new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
We estimate, that every 300th newborn in some countries may be eligible for inclusion due to high-grade suspicion of NPC. The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.
The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.
Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels…