Ambry Genetics has cataloged all of our tests and organized them below by panel. The comprehensive listing of tests by panel is organized in alphabetical order.
(MUTYH deletion/duplication analysis included for tests ordered 2-10-14 or after)
Familial Adenomatous Polyposis (FAP) is an autosomal dominant colon cancer predisposition syndrome characterized by hundreds to thousands of adenomatous polyps in the internal lining of the colon and the rectum.
The BRCAplus panel includes comprehensive analyses of five breast cancer susceptibility genes, all with established clinical management guidelines.
Starting on June 26, 2013, Ambry Genetics will no longer accept cardiovascular NGS panels for testing. Suspended tests include: Brugada syndrome, Long QT syndrome, Arrhythmia, DCM, HCM, Cardiomyopathy and Pan Cardio panels. We will still be offering testing for Marfan, Aneurysm and Related Disorders, and Familial Hypercholesterolemia. In the future, we plan to release updated versions of cardiovascular NGS panels for testing with the addition of deletion/duplication analysis.
Identification of gene mutations that cause Marfan syndrome, aneurysm and related disorders can aid diagnosis and may dramatically improve outcome. Comprehensive testing is indicated in patients who are clinically suspected to have any of the above.
OvaNextTM is a next generation (next-gen) sequencing panel that simultaneously analyzes 23 genes that contribute to increased risk for breast, ovarian and/or uterine cancers.
The Ambry Test: Pancreatitis AMPLIFIED includes gene sequence analysis of PRSS1, SPINK1 and CFTR, and deletion/duplication analysis of CFTR. It does not include analysis of CTRC. It detects approximately 99% of mutations in PRSS1, SPINK1 and CFTR.
Pancreatitis Panel includes concurrent full gene analysis for PRSS1, SPINK1 and CFTR. Pancreatitis Panel can detect 99% of PRSS1 and SPINK of known mutations and 97-98% of CFTR mutations. Testing does not include CTRC gene analysis.
Chronic pancreatitis (CP) is characterized by recurring inflammatory attacks that gradually cause irreversible damage to the pancreas and surrounding tissue. Risk factors for chronic pancreatitis fall into the following categories: toxic metabolic, idiopathic, autoimmune, obstructive, recurrent, and genetic.
Hereditary Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome is characterized by the presence of paragangliomas (PGLs), most often on the head and neck. There are two subtypes of PGLs, sympathetic and parasympathetic paragangliomas.
Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia
Syndrome (ICS), is a genetically heterogeneous, usually autosomal recessive disorder with impaired ciliary function leading to progressive sinopulmonary disease.
Ambry's Surfactant Panel includes testing for mutations in three genes: SFTPB, SFTPC and ABCA3. The Surfactant Panel is a useful and efficient diagnostic tool for the investigation of severe neonatal respiratory distress and pediatric and familial interstitial lung diseases.
Thrombophilia or hypercoagulability is an inherited or acquired susceptibility to thrombosis (blood clots) due to an abnormality in the system of coagulation.
Ambry's XLID Next-Gen Panel™ utilizes massive parallel sequencing technology to detect point mutations, small insertions and deletions in 81 genes implicated in X-linked intellectual disability.