NEW YORK (GenomeWeb) – The New York Genome Center said yesterday that it has received approval from the New York State Department of Health for its clinical exome test, its first clinical diagnostic test.
The lab-developed test, which the center submitted to the state last year, caters to patients with undiagnosed inherited conditions who have often undergone a battery of other diagnostic tests without success.
The NYGC is currently preparing to submit a number of additional clinical tests to the state, including exome and whole-genome sequencing tests for cancer and a whole-genome sequencing test for constitutional disorders.
For the clinical exome test, which is available to pediatric and adult patients, the center will sequence parent-child trios. It will also accept affected or unaffected relatives to provide additional information for the test interpretation. The center hopes to return most test results within six to eight weeks. An NYGC spokesperson declined to provide pricing information for the test.
The test uses Agilent exome capture reagents and Illumina HiSeq 2500 sequencing followed by an automated analysis pipeline. In addition to variants associated with the patient's clinical phenotype, it will report secondary findings in genes recommended by the American College of Medical Genetics and Genomics.
Patients and their families can opt out of receiving secondary findings, and opt into learning about their carrier status for conditions recommended by the ACMG and the American Congress of Obstetricians and Gynecologists.
The NYGC's clinical exome test adds to several similar tests already available from other New York-based laboratories. Columbia University's Laboratory of Personalized Genomic Medicine, for example, launched its clinical exome test in 2013 and received final approval for the test last fall. Also, the Mount Sinai Testing Laboratory at the Icahn School of Medicine at Mount Sinai received state approval for both a clinical exome and a whole-genome sequencing test last year.