Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

The panel ensures compatibility with our previous autosomal Family Finder tests plus all the autosomal transfers we ...

Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive ...

A new study examined the records of 4452 Asian patients with ADPKD treated at 2 tertiary-care centers over a period of 15 years. Patients with ADPKD had higher rates of post-transplant diabetes ...

Please provide your email address to receive an email when new articles are posted on . Nephrectomy can be effectively performed in patients with autosomal dominant PKD for various indications, such ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...