Expert

Expert

How is direct-to-consumer genetic testing done

Direct-to-consumer genetic testing is a type of testing that allows individuals to learn more about their genetic makeup and potential risks for certain diseases. This type of testing is becoming increasingly popular, as it provides individuals with the opportunity to…

TNFRSF13B gene

The TNFRSF13B gene encodes a protein called transmembrane activator and cyclophilin ligand interactor (TACI). TACI is part of the tumor necrosis factor receptor superfamily and is involved in the regulation of the immune system. Mutations in the TNFRSF13B gene have…

Prekallikrein deficiency

Prekallikrein deficiency is a rare genetic condition that affects the body’s ability to form blood clots, leading to increased bleeding and clotting problems. It is inherited in an autosomal recessive manner, which means that both parents must carry a mutated…

Prolidase deficiency

Prolidase deficiency is a rare genetic condition that affects the body’s ability to break down certain proteins. It is caused by mutations in the PEPD gene, which provides instructions for making the enzyme prolidase. Prolidase is responsible for breaking down…

Mabry syndrome

Mabry syndrome, also known as hyperphosphatasia with facial dysmorphism syndrome, is a rare genetic disorder characterized by facial dysmorphism and elevated levels of alkaline phosphatase. The syndrome is caused by mutations in the PIGO gene, which is responsible for producing…

PDGFB gene

The PDGFB gene is one of the genes that play a crucial role in maintaining the health and function of various tissues and organs in the human body. It is involved in several important processes, including cell growth, tissue repair,…

JPH3 gene

The JPH3 gene is a genetic variant that has been associated with several conditions, including Huntington’s disease and other related complex diseases. Testing for this variant is available through genetic testing labs and can be done to determine a person’s…

RAD51 gene

The RAD51 gene is an essential genetic component involved in the control of movement. It belongs to the reca motor protein family and is listed in scientific databases such as OMIM and PubMed. Mutations in this gene have been found…

PNP gene

The PNP gene is a genetic variant that affects purine nucleoside phosphorylase (PNP) enzyme. PNP enzyme is responsible for the conversion of purine nucleosides, such as guanosine and deoxyguanosine, into their respective bases and ribose-1-phosphate. Major changes in this gene…