Indeed, it is clear that NGS based genetic tests are applicable to inherited disorders in all stages of life, from preconception screening to diagnosis of fetal, infant, young child, and adult onset disorders. This chapter presents a brief description of NGS panels, exome and whole-genome ...
Through collaborative international efforts applying next-generation sequencing approaches, the list of genetic syndromes that cause thrombocytopenia has expanded significantly in recent years, now with over 40 genes implicated. In this review, we focus on what is known about the genetic etiology of ...
Parents might worry about their children inheriting the same genetic disorders as them. Educating yourself about your family history health is a good step before deciding to have children. Using this information, you can check for any red flags or see what options are available to discuss with ...
Furthermore, it has been shown that the diagnostic yield of these genetic panels is much lower than expected.51 Recently, Downes et al showed that in a large cohort of well phenotyped patients with disorders of bleeding and thrombosis, the diagnostic rate for patients with thrombocytopenia or a...
Abulikemu Tajiguli1,2,*, Mingchu Xu2,3,*, Qing Fu4, Rouzimaimaiti Yiming5, Keqing Wang2,3, Yumei Li2,3, Aiden Eblimit2,3, Ruifang Sui6, Rui Chen2,3 & Haji Akber Aisa1,2 Inherited retinal disease (IRD) is a category of genetic disorders affecting ...
Who Should Get Genetic Testing? You’re a good candidate if you or your child already have an IRD diagnosis associated with a known gene change. A diagnosis is a big help because many genes are associated with retinal disorders. And the person reading your genetic test needs to know what ...
Present address: Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA These authors contributed equally: Alexander G. Bick, Joshua S. Weinstock These authors jointly supervised this work: Sekar Kathiresan, Pradeep Natarajan Authors and Affiliation...
Data from Children's Hospital Boston show that the IBMFSs comprise about 30% of cases of pediatric BM failure disorders, with Fanconi anemia (FA) cases leading the list. Data from the Canadian Inherited Marrow Failure Registry (CIMFR) suggest an incidence of about 65 cases diagnosed per ...
57 Anton-Lamprecht I: Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy. Hum Genet 1981; 59: 392–405. 58 Anton-Lamprecht I: Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity...
These results bring to light, for the first time, a mutational spectrum in Chinese patients with IRD, and they provide valuable insights not only for genetic counseling but also for the diagnosis and therapy of patients with IRD. Figure 2 Mutation spectrum in Chinese patients with inherited ...