Ambry Genetics provides answers to clinicians, patients, and researchers with comprehensive, reliable, and state-of-the-art DNA diagnostic testing. The Company is well known for its Cystic Fibrosis tests, CF AMPLIFIED™ and 508 FIRST™, which detect more than 99% of the 1500-plus known CF mutations in patients of all ethnicities. With over 15,000 full analyses of the CFTR gene completed, Ambry Genetics has the largest single-laboratory database from which to draw the most experienced diagnostic conclusions. We are proud to be involved with the CF Community through our genetic testing services and relationships with support organizations.

Diabetes genetic testing at Ambry Genetics is thorough and easy with the availability of individual gene sequence analyses and cost-saving reflex pathways for diagnosis of neonatal diabetes, congenital hyperinsulinism, and MODY (Maturity-Onset Diabetes of the Young) Types 1-5.

Ambry Genetics features a unique menu of pulmonary disease genetic tests including The Ambry Test: IPF Telomerase, which is the first clinical test available to define the genetics of idiopathic pulmonary fibrosis. Mutations in Surfactant Proteins B and C, and the ABCA3 protein, cause severe neonatal respiratory distress and/or interstitial lung diseases. We also provide mutation testing for primary ciliary dyskinesia, sequencing for alpha-1-antitrypsin deficiency and pulmonary arterial hypertension, plus research testing of the ADRB2 asthma gene and Surfactant Proteins A and D.

Ambry Genetics created the first comprehensive genetic test for three principle genes (PRSS1, SPINK1, and CFTR) associated with Chronic Pancreatitis and Hereditary Pancreatitis. One in four patients has at least one significant mutation. The Ambry Test: Pancreatitis facilitates identification of genetic contributions to this disease, leading to better patient management.

Clients of Ambry Genetics benefit from expanded customer services including pre-test verification of patient insurance benefits and results discussion with on-staff genetic counselors. Our flexible Research & Development department is structured for rapid development of new tests and quick response to researchers' needs for testing in clinical studies. Ambry Genetics is committed to quality, service, patient care, and promotion of genetic research.