Provider Resources

We work with health systems to integrate our tests into the health system's EHR system so that you can seamlessly order within your current workflow. You can also place an order for a Helix test through our provider portal. Please reach out to us by contacting Customer Support at at 844-211-2070 if you'd like to discuss an EHR integration or gain access to our provider portal.

If you need to make changes, please call Helix's Customer Support team at 844-211-2070 or email providersupport@helix.com if you are using our provider portal. Cancellations can be made within your health system's EHR system.

No, only a licensed healthcare provider can place a test order after determining that such is medically necessary for you. If you are a patient that is interested in any of our tests, please have a discussion with your healthcare provider.

Helix offers two proactive screening tests: a Tier One Population Screen and a Hereditary Actionable Disorders Panel. The Tier One Population Screen analyzes 11 genes related to Hereditary Breast and Ovarian Cancer (HBOC) syndrome, Lynch syndrome, and Familial Hypercholesterolemia. The Hereditary Actionable Disorders Panel analyzes genes related to hereditary predisposition to oncology, cardiology, metabolic, muscular and blood clotting disorders.

While both tests examine DNA, there are important differences between a diagnostic genetic test and a genetic screening test. Diagnostic genetic testing is ordered when there is a suspicion of a genetic condition. This type of genetic test includes a targeted set of genes and reads the DNA of those genes at a deeper level. Diagnostic genetic test reports also include variants of uncertain significance (VUS). A VUS is a common result. It means that the lab does not have enough information about a variant to know whether it causes disease. A VUS should not be used to guide medical decision-making. In some cases, a VUS may be important for a health care provider to consider. For more information about VUS, please see NCCN® guidelines.

Genetic screening tests are offered to a broad group of people. The goal of screening tests is to identify those with a high risk for developing a disease. This allows for prevention or early detection of disease. Genetic screening tests typically include a limited set of genes. They do not report variants of uncertain significance.

Please contact your health care provider if you have additional questions about the difference between screening and diagnostic genetic testing.

Your dedicated Clinical Advisor will request missing information via phone, encrypted email, or fax, depending on your preference. They will also ask for a point of contact to assist with requests. If a provider wants to provide more information, billing-related information should be sent to reimbursement@helix.com and clinical information should be sent to clinicalsupport@helix.com.

The consent requirements will vary by health system and we encourage providers to utilize their current procedures for obtaining consent. Helix requires attestation of consent in the requisition form. Helix's consent forms can be found in the Resources section above.

Choosing the best genetic test for your patient involves looking at their medical and family histories, their current health situation, and the specific information they and you are looking for. If you need help deciding which test may be appropriate for your patient, please feel free to call our Customer Support team at 844-211-2070 to be directed to a certified genetic counselor.

Please refer to our test catalog to see the genes that are included on each panel.

No, once your patient has been sequenced through Helix, there's typically no need for another sample. Helix uses its proprietary Sequence Once, Query Often® model to perform whole exome sequencing and store the genetic information for future clinical use. This allows healthcare providers to order additional medically necessary genetic tests without requiring a new sample in most cases, as future tests are conducted through digital analysis of the stored genetic information. This approach can lead to faster results and may reduce out-of-pocket expenses for your patient compared to the initial sequencing.

Based on our experience so far, we expect to request a new sample < 1% of the time and primarily for samples on the earliest versions of Helix's Exome+® assay. Before requesting a new sample, Helix will first check our storage units to determine if additional DNA is required.

Yes, Helix can provide specimen collection kits. We accept blood samples in purple-top EDTA tubes and saliva samples using Oragene collection tubes or their full kits. While many of our clinical partners choose to use their own stock of purple-top tubes to avoid managing additional inventory, Helix can supply these tubes for sample collection if preferred.

No more than 60 days (for both blood and saliva).

Specimens should individually be placed in a leak-proof biohazard specimen bag containing enough absorbent material to absorb the total volume within the sample. If shipping multiple samples, up to 20 samples can fit inside an insulated envelope. Up to 2 insulated envelopes can be contained in the same UPS Laboratory Box (18" x 13" x 3"). A copy of the packing slip should be provided at time of shipment (not required, though preferred). Please email the packing slip to packingslip@helix.com.

Return labels are pre-purchased UPS shipping labels. Once the box is ready for shipping the site can either leave the box in a designated UPS courier pickup spot, drop off the return boxes directly at UPS, or schedule UPS pickups online. Option to set up a Placard UPS Healthcare Pickup Point for more frequent pickups- please reach out to supply@helix.com to get started. This can take up to 4 weeks to implement.

Helix accepts packages Monday through Saturday between 8AM-4PM PT. Samples must be shipped Monday through Friday, overnight. Samples collected late Friday or over the weekend should be stored at room temperature and then shipped the following Monday.

Ship samples at ambient temperature to arrive at Helix within 96 hours of collection.

Improper Labeling, Improper Collection, Low Volume, Spilled, Leaked, or Damaged, Hemolyzed or Clotted Blood, Cord blood, Blood from patients who have had an allogeneic bone marrow transplant or an allogeneic stem cell transplant. Blood from patients who have had a packed cell/platelet transfusion less than 2 weeks prior to specimen collection. Blood from patients who have had a whole blood transfusion less than 4 weeks prior to specimen collection.

We cannot accept samples from patients with allogenic bone marrow or stem cell transplants as DNA would be representative of the donor instead of the patient. Individuals with hematologic malignancies are usually compatible with our testing. In some cases, the genetics of the cancer may interfere with the quality of results. If it does, we will be sure to notify you. We can accept samples from deceased patients, so long as the samples meet our normal specimen requirements.

Helix accepts Medicare, Medicaid, commercial insurance, and offers a cash-pay price. Additionally, individuals who meet financial criteria may qualify for Helix’s patient financial assistance program or Helix’s monthly payment plan. Payment plans can be arranged by calling 855-699-1933.

For those who are uninsured, Helix offers a financial assistance program developed from federal guidelines. Eligibility requirements are determined by the income and household size of the applicant. We also provide a payment plan option that allows for payment to be spread over several months. Patients may contact Customer Support at 844-211-2070 or support@helix.com for additional information or for assistance with their application.

To bill insurance for genetic testing through Helix, you'll need to provide the following: a completed order, clinical documentation (this can include pedigree or consultation notes), copies of the patient's insurance card, and prior authorization if required by the patient's insurance.

Additional billing information should go to reimbursement@helix.com and clinical information should go to clinicalsupport@helix.com.

Yes, all positive results are confirmed before reporting.

All positive results are confirmed before reporting. For small variants, 85-90% are confirmed by manual review of reads. The remaining 10-15% of SNVs are confirmed by whole genome sequencing (WGS), as are copy number variants (CNVs). PMS2 small variants and CNVs overlapping exons 11-15 are confirmed via PacBio long reads. MSH2 inversion and IVS5+3A>T are confirmed with WGS.

Helix uses a rigorous approach to variant interpretation guided by established standards set forth by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP). Additionally, Helix incorporates any modifications to these guidelines made by expert panels within the Clinical Genome Resource (ClinGen) consortium, when available, to ensure the most up-to-date and accurate interpretation of variants.

Helix employs a multi-faceted approach to resolve variants of unknown significance (VUS) which include utilizing advanced bioinformatics tools and alogirthms to analyze VUS', regular database updates, as well as expert review and literature monitoring. Helix's access to real-world evidence from its research network also reduce VUS' overall.

While Helix considers ClinVar as an important resource in the variant classification process, we do not base our classifications solely on ClinVar entries but deploy a more comprehensive approach which includes independent assessment, critical evaluation, multiple data sources and the use of our real-world evidence from our research network. We may reach out to other submitters to discuss and potentially resolve those differences.

Helix employs a systematic and rigorous approach to finding and evaluating literature evidence for genetic variant interpretation. Our process includes a comprehensive literature search coupled with ACMG/AMP guidelines to categorize and weigh different types of evidence and assess how literature findings translate to clinical significance and actionability.

Test results are delivered to the ordering provider through the EHR or our provider portal. Helix provides a PDF and depending on the integration type, delivers results as discrete data.

The time it takes to receive results varies but is typically within 7 to 24 days. Test results will be returned more quickly if a patient's DNA sample has been sequenced by Helix in the past. Results are returned directly to the electronic medical record.

There are three types of genetic test results.
A positive result means that a disease-causing variant has been found. Lifetime risk of developing disease is higher compared to the general population. Exact risks vary by gene. A positive result may explain why disease occurred and may impact medical management. For those who have not been diagnosed, a positive result can help clarify their future risk of disease and guide next steps in medical care. Sometimes a positive result indicates that someone is a "carrier." Carriers do not have increased personal risk of disease, but this type of result may impact the risk to their children.

A negative result means that no disease-causing variants were found in the genes that were tested. Personal and family medical history should be used to guide next steps. It is important to remember that inherited genetic variants are just one cause of disease. Other causes may include aging, lifestyle factors, exposures and other genetic influences.

An indeterminant result means that a variant of uncertain significance has been found. This type of result is common. It means that we do not have enough information about a specific variant to know whether it causes disease. Such variants should not be used to guide medical decision-making. Personal and family medical history should be used to guide next steps.

Health Insurance
Genetic test results become part of a patient's medical record. Health insurance companies may request results that have been put into a patient's medical record. A positive genetic test result indicates an increased risk of developing disease, such as cancer or heart disease. We recommend individuals with an increased risk for these conditions consult with their healthcare providers to discuss medical management options for prevention or early detection. Health insurance companies may require information about disease risk in order to provide coverage for such medical management. However, health insurance companies and group health plans are prohibited from using genetic information when making decisions about eligibility for coverage or insurance premiums.

The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law. Title I of GINA makes it illegal for health insurers to use genetic information to determine eligibility or make decisions related to coverage, underwriting or premium-setting. The protections of GINA extend to private health insurance plans, Medicare, Medicaid, Federal Employees Health Benefits, and the Veterans health Administration. Limited protections are offered for the U.S. Military's TRICARE insurance program. In addition, the Affordable Care Act of 2010 (“ACA”) prohibits health insurance companies from refusing to cover or charging participants more due to a “pre-existing condition.”

Employment
GINA makes it illegal for employers to make decisions about whether to hire or fire employees based on genetic information. The law also prohibits labor organizations from discriminating against an individual based on genetic information. Note: GINA’s employment protections do not extend to all employees or in all circumstances.

To learn more about GINA, please visit the following websites:
https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination
https://geneticalliance.org/policy/genetic-discrimination
http://www.ginahelp.org/

Life, Disability and Long-term Care Insurance
If a participant already has a life, disability or long-term care policy, new information about their health (including genetic information) generally may not be used to deny continuing coverage under those policies. When seeking new or additional coverage, some companies may require a review of medical information. This may include any information in a patient's medical record, including age and conditions, such as diabetes, obesity, heart disease, cancers etc. Helix genetic test results are returned to the medical record and may also be used to make coverage decisions about new or additional policies. Though GINA does not offer protection for life, disability or long-term care insurance, some states have additional protections for these types of insurance, so patients and providers may want to learn more about laws in their state.

Keeping your patients' information private and secure is important to us. We comply with all applicable federal and state privacy laws and regularly perform third party assessments of our security and privacy programs to ensure they are operating effectively. For details on how we protect your patients' information, please visit our Privacy and Policy Highlights page.

Helix does not provide patient-facing genetic counseling services. The National Society of Genetic Counselors (NSGC) maintains a directory of telegenetic and in-person genetic counseling resources at www.findageneticcounselor.org.

Yes. Healthcare providers can email clinicalsupport@helix.com or call (844) 256-6420 to reach a Helix genetic counselor to discuss a patient case.

Helix’s Exome+ assay is run on all samples sequenced at Helix. This assay uses next generation sequencing as the molecular method and combines a clinical exome with uniform panel-grade tests, a genome-wide backbone, and full mitochondrial coverage.

Yes. Helix can detect deletions of up to 20 bp with ≥ 99.9% sensitivity and insertions of up to 20 bp with ≥ 99.8% sensitivity. All variants are confirmed prior to reporting.

Helix employs a rigorous and evidence-based approach to selecting genes for inclusion in multi-gene panels. Important considerations are made to evaluate genes for their scientific validity, clinical actionability, expert guidance, regulatory compliance, technological feasibility, population relevance, and ethical considerations. When available, we consult the relevant ClinGen Expert Panel recommendations and do not include genes of Limited or Disputed evidence. Please note that our gene selection process is dynamic, with periodic reviews to incorporate new scientific discoveries and remove genes that may no longer meet inclusion criteria. You may also reach out to us if you'd like to request that we consider adding new genes.

To begin exome sequencing, DNA is first extracted from a patient's blood or saliva sample. The DNA is then fragmented and adapters are added to enable amplification and sequencing. This is referred to as "library preparation." In the exome capture/enrichment step, exonic regions (the protein-coding parts of the genome, which make up about 1-2% of the human genome) are selectively enriched. This can be done using hybridization-based capture with probes that bind to exonic sequences. The enriched exonic regions are then sequenced using an NGS platform, such as Illumina, which allows for high-throughput sequencing. Finally, sequencing data is aligned to a reference genome, and various bioinformatics tools are used to detect variants (e.g., single nucleotide polymorphisms and insertions/deletions) within the exome.

Helix undertakes a comprehensive approach to validating its molecular methodologies to ensure accuracy and reliability. Validations are designed to comply with both CLIA standards and CAP accreditation and uses a combination of clinical samples and well-studied cell lines to measure sensitivity, specificity, repeatability, reproducibility, accuracy, and pass rates. Additionally, Helix maintains a vigorous program around proficiency testing, compliance with regulatory standards, bioinformatics pipeline validation, software verification, and orthogonal confirmation. Helix also employs continuous quality control measures and performs regular re-validation studies to maintain high standards as technology and knowledge evolve. We engage genetics experts and medical professionals to review and validate our methodologies and protocols and make our validation process available via our performance white paper.