Rapid advances in sequencing technology have led to significant improvements in genomic analysis, resulting in increased understanding of the molecular basis of many endocrine conditions. Genomic testing for rare disease is being integrated into everyday clinical practice, as the importance of confirming a genetic diagnosis earlier in a patient's pathway helps direct their clinical care and specialised management. In England, the new nationally commissioned Genomic Medicine Service has started to deliver testing for rare and inherited disease and cancer somatic tissue via seven Genomic Laboratory hubs. The range of genetic tests, technology employed and eligibility criteria for patient testing are all defined in the National Genomic Test di...
Establishing a genetic diagnosis may lead to major health benefits for the patient and their wider f...
Genetic testing is now an integral part of most areas of medicine, but especially neurological servi...
Innovative medical technology has made it possible to test whether you are at increased risk for cer...
Rapid advances in sequencing technology have led to significant improvements in genomic analysis, re...
The recent genomic revolution, characterised by surges in the number of available genetic tests and ...
Objective: To discuss the factors to consider when evaluating patients with a suspected genetic endo...
Background: With the development of molecular high-throughput assays (i.e. next generation sequencin...
Background: with the development of molecular high-throughput assays (i.e. next generation sequencin...
Background With the development of molecular high-throughput assays (i.e. next generation sequencing...
In this chapter, we discuss the different factors to consider when evaluating patients with a suspec...
AIM: This study aims to formulate a specific arrangement for carrying out the clinical genetic testi...
Knowledge of inherited diseases and the ability to rapidly, efficiently and comprehensively perform ...
Advances in genetic technology are having a major impact in the clinic, and mean that many perceptio...
Aim: This study aims to formulate a specific arrangement for carrying out the clinical genetic testi...
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditi...
Establishing a genetic diagnosis may lead to major health benefits for the patient and their wider f...
Genetic testing is now an integral part of most areas of medicine, but especially neurological servi...
Innovative medical technology has made it possible to test whether you are at increased risk for cer...
Rapid advances in sequencing technology have led to significant improvements in genomic analysis, re...
The recent genomic revolution, characterised by surges in the number of available genetic tests and ...
Objective: To discuss the factors to consider when evaluating patients with a suspected genetic endo...
Background: With the development of molecular high-throughput assays (i.e. next generation sequencin...
Background: with the development of molecular high-throughput assays (i.e. next generation sequencin...
Background With the development of molecular high-throughput assays (i.e. next generation sequencing...
In this chapter, we discuss the different factors to consider when evaluating patients with a suspec...
AIM: This study aims to formulate a specific arrangement for carrying out the clinical genetic testi...
Knowledge of inherited diseases and the ability to rapidly, efficiently and comprehensively perform ...
Advances in genetic technology are having a major impact in the clinic, and mean that many perceptio...
Aim: This study aims to formulate a specific arrangement for carrying out the clinical genetic testi...
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditi...
Establishing a genetic diagnosis may lead to major health benefits for the patient and their wider f...
Genetic testing is now an integral part of most areas of medicine, but especially neurological servi...
Innovative medical technology has made it possible to test whether you are at increased risk for cer...