ACE Clinical Exome™

by Personalis, Inc.

The ACE Clinical Exome™ Test for Disorders of Unknown Genetic Etiology

The ACE Clinical Exome™ test is a clinical diagnostics service that is appropriate when a patient’s medical history and physical exam suggest a disorder of unknown genetic etiology.

Identifying Patients Suitable for the ACE Clinical Exome™ Test

The ACE Clinical Exome™ test is an appropriate test for individuals with a condition that is suspected to be caused by a variant(s) in a single gene, when:

  • The etiology of the patient’s disorder is likely genetic but no specific genetic test is clinically available for the disorder in question;
  • The genetic disorder in question demonstrates a high degree of genetic heterogeneity and it may be inefficient both in terms of time and cost to sequence all the associated genes individually; or
  • The etiology of the patient’s disorder is likely genetic and the patient has had genetic testing for their disorder but this has not provided a diagnosis (Genet Med. 2012 Aug;14(8):759-61).

Benefits of ACE Clinical Exome™ Testing

The potential benefit of the ACE Clinical Exome™ test is that it may provide insights into the genetic basis of the disorder in the individual and/or family that prompted testing. This information may influence the medical management of such individuals/families.

Medical Management for Patients Undergoing Personalis ACE Clinical Exome™ Testing

The results of the ACE Clinical Exome™ test should be considered in the context of the patient by a qualified, licensed health care provider. Results should not be used to replace or overrule a qualified, licensed health care provider’s judgment, clinical diagnosis, or monitoring of patients.

What are the unique advantages of the ACE Clinical Exome™ test from Personalis?

Unlike other exome sequencing platforms, the ACE Clinical Exome™ test has been specifically designed to enhance diagnostic yield for clinical care. The ACE Clinical Exome™ test has several major features that are not addressed by standard exome sequencing platforms: a high level of gene finishing, structural variant detection, and inclusion of non-exonic interpretable content.

ACE Clinical Exome™ FAQs

[accordion][accordion-item title="How do I order a test?"]Please contact us and let us know if you would like to order a test for a patient. One of our representatives will get in touch with you and advise on the workflow, and provide the necessary forms and sample collection kits. Once the samples have been collected, we will coordinate the shipment of the sample to the laboratory. Once testing is completed, the report will be sent to you.[/accordion-item][accordion-item title="How is ACE Clinical Exome™ test performed?"]Genomic DNA is isolated from the patient’s whole blood, saliva or buccal swabs. Personalis will create indexed genomic libraries using their proprietary ACE Clinical Exome™ library preparation kits. These libraries will be pooled with other indexed libraries and enriched using the ACE Clinical Exome™ enrichment kit with genome-wide structural variant detection. The resulting enriched pools will be sequenced and the resulting sequence, (approximately 11-15 Gigabases per sample) will be analyzed using the Personalis ACE Pipeline. Variants are initially filtered according to a combination of attributes including quality, population frequency, estimated severity of variant on protein function, and ultimately ranked by their likelihood to explain phenotype. High-ranking variants are manually reviewed by Personalis’ team of geneticists, bioinformaticians, genetic counselors, and laboratory directors who will determine if any of the variants identified are likely to be causative of the presenting phenotype. A detailed written report, discussing each detected potential disease-related variant will be issued to the medical professional(s) named on the requisition form. Only variants that have been confirmed to be present in the sample by a second independent sequence detection method will appear in the report. [/accordion-item][accordion-item title="How long does it take for ACE Clinical Exome™ test results?"]It takes 10-14 weeks from receipt of sample.[/accordion-item][accordion-item title="What does an ACE Clinical Exome™ test result reveal to a patient?"] The ACE Clinical Exome™ test may provide insights into the genetic basis of the patient’s disorder. [/accordion-item][accordion-item title="What symptoms/syndromes indicate that a patient is suitable for an ACE Clinical Exome™ test?"]The ACE Clinical Exome™ test is appropriate when a patient’s medical history and physical exam suggest a disorder of unknown genetic etiology. [/accordion-item][/accordion]