Panels
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.
AmbrySCREEN Version 2™ is a focused genotyping test that screens for 76 childhood onset conditions representing only severe or common diseases. The core of the AmbrySCREEN™ test is the most sensitive Cystic Fibrosis carrier mutation panel in the marketplace.
Ashkenazi Jewish FlexPanel is a convenient, high-sensitivity screening test for Ashkenazi Jewish individuals to determine their reproductive risks by analyzing seventy-seven common known disease-causing mutations on the 17 genes that cause the 16 associated primary diseases listed below.
Cystic Fibrosis (CF) affects approximately 30,000 children and adults in the US, and at least eight million Americans are asymptomatic carriers. Ambry Genetics is committed to CF caregivers and patients through diagnostic testing, research services, and community involvement.
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.
Identification of gene mutations that cause Marfan syndrome or Marfan-Related Disorders can aid diagnosis and may dramatically improve outcome. Comprehensive testing is indicated in patients who are clinically suspected to have Marfan Syndrome or Marfan-Related Disorders.
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.
The test: Pancreatitis Panel uses gene sequence analysis to test for mutations in PRSS1, SPINK1 and CFTR. It does not include analysis of CTRC. This test detects approximately 99% of mutations in PRSS1 and SPINK1, and approximately 97-98% of mutations in CFTR.
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.
Next-Gen Sequencing utilizes a massive parallel sequencing technology that provides high throughput and analytical sensitivity. The Ambry XLMR Next-Gen SuperPanel™ will detect point mutations, small insertions and deletions in 81 genes implicated in XLMR. Approximately 42% of patients with a family history of XLMR are anticipated to have mutations in one of 81+ known genes implicated in XLMR.
Ambry has a comprehensive, flexible suite of tests available for evaluation of X-Linked Mental Retardation/Intellectual Disabilities, including Ambry's XLMR Next-Gen SuperPanel™ and Ambry CMA: 180K Oligo ArrayPlus™ (with increased coverage of the X chromosome).