American Thoracic Society Conference
(Booth # 1146) in Philadelphia, PA
5/19 - 5/23
Next-generation (next-gen) sequencing allows for rapid analysis of multiple genes at a considerably lower cost compared to traditional sequencing techniques. This technology has brought affordable, exome sequencing to the clinical setting.
2013 ACMG Ambry Genetics Exome Posters
First-Tier Exome™ and Clinical Diagnostic Exome™
Ambry Genetics offers a flexible, tiered approach to exome sequencing in order to accommodate the variable needs of clinicians and to assist in the diagnosis and medical management of patients.
For all scenarios we ask that you send samples from the entire family from the beginning of testing for co-segregation analysis.
Exome sequencing test options:
1. First-Tier Exome (analysis of ~4,000 characterized genes)
2. First-Tier Exome reflex to Clinical Diagnostic Exome
3. Clinical Diagnostic Exome (testing of trios; analysis of ~20,000 RefSeq genes)
The role of genes in human disease has only been defined in approximately 20% (~4,000 of ~20,000 genes) of the human exome. The First-Tier Exome analyzes the DNA sequence of the exons (coding regions) and flanking intronic regions of these ~4,000 genes. The targeted exome sequencing provided by the First-Tier Exome is appropriate for a variety of exome sequencing indications and will yield the answers clinicians are seeking in many clinical scenarios without the added expense and complexity of whole exome analysis.
First-Tier Exome reflex to Clinical Diagnostic Exome:
This test offers clinicians the option to begin with the First-Tier Exome, but if First-Tier does not render a genetic diagnosis, Ambry will reflex to the Clinical Diagnostic Exome to try to solve the diagnostic odyssey for this patient and his/her family.
Clinical Diagnostic Exome (CDE):
This is the most comprehensive option clinically available on the market. This test includes analysis and interpretation of coding regions (exons) of virtually all genes in the human genome (~20,000 RefSeq genes). This option includes whole exome sequencing for family trios and analysis and reporting of novel gene discoveries. Co-segregation analysis is also included. Send samples from the entire family from the beginning of testing and Ambry will select the three individuals to construct the trio to provide the most informative results.
Please note: This test is not available for fetal demise samples.
For testing forms and requirements, please visit Ambry's Exome Requirements.
Consent forms for receipt of raw data (for research purposes):
Indications for Testing