How to Order TruGenome Services

How to Order TruGenome Services

Sample Collection Instructions

Request an all-inclusive Sample Collection Kit (required for international shipments)


Can’t wait for a kit? Send your sample following these instructions (US shipments only)

Submit Sample

For questions, contact Illumina Inside Sales at (858) 202-4500.

TruGenome Clinical Sequencing Services are diagnostic tests and must be ordered by a licensed physician. The basic steps involved in whole-genome sequencing testing are shown below.


Physician—Patient Discussion

You discuss whole-genome sequencing with your patient and obtain formal consent. (Genetic counseling is also recommended.)


Physician—Illumina Clinical Geneticist Consultation

You place the order, request a sample kit, and consult with an Illumina Clinical Geneticist, depending upon the service selected.


Sample Collection

In your office or a reference lab, the patient’s blood sample is collected and then shipped to us.


Whole-genome sequencing at Illumina Clinical Services Laboratory

At our CLIA-certified, CAP-accredited lab, the DNA is sequenced, and variants are identified and classified. Our bioinformaticians, medical geneticists, and genetic counselors analyze and interpret the relevant gene variants.


Report Sent to Physician

We send you a report containing the clinical classifications of the variants found. (A clinical report is not provided with the Technical service.)


Physician—Patient Discussion

You use this report to discuss the results and next steps with your patient.

The Sample Collection kit includes barcoded collection tubes, a Test Requisition form, an Informed Patient Consent form, and a pre-paid shipping envelope. All forms are barcoded to match the collection tubes, so be sure to use the forms in the kit. All forms must be completed and returned for sample processing.

Sample requirements are:

Blood: 4–8 ml of freshly collected blood in a PAXgene DNA tube (provided in the Sample Collection kit), or a purple top EDTA tube

Contact the laboratory if there are any concerns or questions regarding sample collection and submission

After the sample, paperwork, and 100% pre-payment have been received, the Illumina Clinical Services Laboratory will begin the sequencing process. We generate libraries of 200–400 bp, which are then sequenced as 100–150 bp paired-end reads. We sequence to an average of > 30-fold coverage at a quality of Q30, with the minimum call being made at 10-fold coverage. Internal validations suggest this average level of coverage and quality in a diploid genome results in > 99.99% accuracy in detecting single nucleotide variants, and > 85% accuracy in detecting small insertion/deletion events. At a minimum, we provide results for > 90% of the genome, including > 90% of the exome. Note that currently it is not technically possible to capture the entire human genome, nor to detect all the types of variants that may be present. Currently, we report on single nucleotide substitutions and insertion/deletion events of 7 base pairs or less.

Before ordering TruGenome Clinical Sequencing Services, Illumina recommends that you contact us to learn more about our options and capabilities based on your particular cases.

Turnaround time is estimated from sample receipt and payment date (whichever is received later). Incomplete paperwork or billing may delay the delivery of results.

TruGenome Service Turnaround Time
Undiagnosed Disease Test 90 days
Predisposition Screen 90 days
Technical Sequence Data 45 days

We require 100% pre-payment to begin testing. We do not bill insurance companies. We directly bill the patient or hospital who may then choose to seek reimbursement from insurers. Please complete the billing information section on the test requisition, as appropriate.

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TruGenome Clinical Sequencing Services is performed in the Illumina CLIA (Clinical Laboratory Improvements Amendment)-certified and CAP (College of American Pathologists)-accredited Clinical Services Laboratory. The TruGenome Sequence information is generated by licensed personnel using an analytically validated process. Consistent with Laboratory Developed Tests, it has not been cleared or approved by the U.S. Food and Drug Administration.

This genome sequence information can be analyzed to potentially aid physicians in the evaluation of a broad range of health conditions or physiological traits. Patients will not receive medical results, or a diagnosis, or a recommendation for treatment from Illumina. Any results arising from the analysis of genome sequence information that might be deemed medically actionable should be confirmed using alternative testing. If any questions or concerns arise about what is learned through the genome sequence information, patients should contact their physician or a genetic counselor. Currently Illumina does not accept orders for TruGenome Clinical Sequencing Services from New York.