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Genetic Health

Illumina, Children’s Hospital of Philadelphia Launch Study

LeukoSEQ to study sequencing as diagnostic tool for rare diseases

Illumina, Children’s Hospital of Philadelphia Launch Study
January 17, 2017

Next-generation sequencing (NGS) technologies have the potential to revolutionize the diagnostic process for rare diseases, especially those such as leukodystrophies, which have seen historically low rates of diagnosis. Illumina and The Children’s Hospital of Philadelphia are currently recruiting participants for a new study called LeukoSEQ, which will use whole genome sequencing (WGS) as part of the diagnostic process for leukodystrophies.

Leukodystrophies are rare genetic disorders with primary white matter abnormalities in the central nervous system. These disorders – thought to occur in approximately 1 in 7,000 births – remain a diagnostic challenge for clinicians because of their complex clinical presentations and diverse etiologies. The LeukoSEQ study is designed to evaluate the efficacy and clinical utility of WGS testing as a first line diagnostic tool for leukodystrophies.

While there have been significant advances in diagnostic technologies over the past decade, standard biochemical, genetic and neuroimaging diagnostic techniques are still unable to provide definitive diagnoses for a significant portion of leukodystrophy patients. The LeukoSEQ study may help shed some light on these rare diseases.

The study investigators hypothesize that immediate NGS, and specifically WGS, will result in a greater percentage of definite diagnoses than current diagnostic approaches, with a significantly shorter time to diagnosis. The investigators are also addressing whether NGS will occasionally result in a molecular diagnosis where no diagnosis would have been achievable using current diagnostic approaches.

As part of the study, participants will receive results of a WGS test, performed at Illumina’s CLIA-certified Clinical Services Laboratory in San Diego, within six months of enrollment. The study will absorb the cost of the sequencing so that participants do not have to pay for the sequencing test. In order to be eligible to enroll in the study, patients must have undiagnosed abnormalities of the white matter of the brain, with an “index MRI” (i.e. first suspicious MRI) performed no more than two months prior to study referral. The study team will review medical records and radiology images to confirm study eligibility prior to enrollment. The study is open to all residents of the United States. No site visit is required to participate; blood samples will be obtained locally via the referring physician or primary care provider. 

For more information on the LeukoSEQ study and eligibility requirements, or to refer an eligible candidate, please contact study coordinator Omar Sherbini at or (215) 590-2575.

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