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Our virtual panels include over 3,000 genes selected based on the most up-to-date literature, gene reviews and variant databases. Our whole genome approach offers cost-effectiveness by reducing the need for multiple targeted tests, and maximises diagnostic yield by allowing you to combine panels, select individual genes, and surface variants across all regions of the genome.

Genetics in Endocrinology

Genetic testing has revolutionized the field of endocrinology by providing critical insights into the genetic basis of endocrine disorders.  It helps identify specific genetic mutations or variations associated with conditions like congenital adrenal hyperplasia, polycystic ovary syndrome (PCOS), and multiple endocrine neoplasia (MEN) syndromes. This accuracy in diagnosis is essential for tailoring treatments and interventions effectively. Genetic markers can indicate a heightened risk of type 2 diabetes or thyroid conditions. This information enables early interventions and lifestyle modifications to mitigate risks.

In pediatric endocrinology, genetic testing is instrumental in the early detection of congenital hormone disorders, such as growth hormone deficiency or congenital hypothyroidism. Early diagnosis and intervention can prevent developmental issues and improve the long-term health of affected individuals. In thyroidology, genetic testing of thyroid nodules helps determine the risk of malignancy.

Genetic testing in endocrinology enhances the accuracy of diagnosis, enables personalized treatment plans, assesses genetic risks, and supports early intervention. It also plays a pivotal role in genetic counseling and family planning, ultimately improving patient outcomes and quality of life for those with endocrine disorders. As genetic research advances, genetic testing is expected to become an even more integral part of endocrinology practice.

While genetic panel tests are highly valuable in endocrinology, it’s essential to interpret their results in the context of a patient’s clinical presentation and other diagnostic tests. We recommend working closely with genetic counselors and other specialists to ensure that genetic information is used effectively to diagnose, treat, and manage endocrinology conditions.

For further information on tailoring treatment plans to an individual’s genetic profile, leading to improved outcomes and reduced side effects, please visit our pharmacogenomics page.

Endocrinology Panels

Congenital adrenal hypoplasia    
Congenital hyperinsulinism  
Congenital hypothyroidism  
Diabetes with additional phenotypes suggestive of a monogenic aetiology    
Disorders of sex development   
Familial diabetes   
Familial hypoparathyroidism    
Hypogonadotropic hypogonadism
Insulin resistance (including lipodystrophy)   
IUGR and IGF abnormalities
Multi-organ autoimmune diabetes    
Neonatal diabetes    
Primary ovarian insufficiency 
Severe early-onset obesity   
Multi locus imprinting disorders   

How to order

For information about our registration process and prices, please don’t hesitate to get in touch. A member of our friendly team will get back to you shortly.