GeneDx is pleased to announce the availability of comprehensive genetic testing for Von Hippel Lindau syndrome. We perform both bi-directional sequencing and deletion/duplication testing by quantitative PCR (CopyDx), thus providing the most comprehensive VHL testing available. The approach used by GeneDx is expected to identify a mutation in almost all individuals with a clinical diagnosis of VHL. Sequence analysis and CopyDx are performed concurrently to facilitate a faster turn-around-time.

The addition of VHL genetic testing expands our growing test menu for hereditary cancer predisposition syndromes. GeneDx now offers testing for several syndromes predisposing to renal cell carcinoma (RCC), including:

• VHL

• Hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

• Birt-Hogg-Dube (BHD)

VHL is also associated with an increased risk for pheochromocytoma (PCC), and our expanded test menu will include testing for the following syndromes associated with PCC:

• VHL

• Multiple Endocrine Neoplasia type 2 (MEN2)

• Carney complex

• Hereditary paraganglioma-pheochromocytoma syndromes (PGL/PCC) associated with mutations in the SDHB, SDHC, and SDHD genes.