We offer targeted detection of a previously characterized mutation within the family. From a fresh EDTA blood sample, DNA is extracted directly and the target region is amplified and directly ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Scientists at the Victor Chang Cardiac Research Institute have developed a world-first individualised risk prediction tool for people suffering from a type of heart arrhythmia that can cause sudden ...

"Clinicians performing tumor biopsy need to ensure that there’s adequate tissue for both diagnosis and NGS testing. Having immediate pathology review of biopsy specimens in the operating room can ...

Certain genetic mutations can boost your risk of breast cancer. Here’s what experts say you need to know when making the decision to get tested. Possible anomalies in a breast cancer screening are ...

Cystic fibrosis is an inherited illness that can be screened for during pregnancy. The test determines whether you have any altered genes that you can pass on to your child. Having the information can ...

NEW YORK, Sept 14 (Reuters) - Pfizer (PFE.N), opens new tab is trying to increase doctor awareness of and testing for a rare lung cancer mutation to help boost use of its drug Braftovi, which the ...

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