PreventionGenetics Blog

Billing: Our Best Kept Secret

Billing for reimbursement of genetic testing in today's healthcare environment is complicated. At PreventionGenetics, we believe in the power of genetic testing and strive to make the testing process as transparent and straightforward as possible. Below are some facts about PreventionGenetics' billing policies and services, and what they mean for you.

Transparent Prices - Our test prices are openly published on our website. We charge the same price regardless of payer type.

What this means - Simple, ethical billing practices with no unexpected charges.

Investigation of Benefits - Upon request, we will contact any commercial insurance payer for an investigation of benefits for your patient. Our billing team handles pre-verifications promptly and professionally and follows-up with the insurance company to ensure a quick response. We provide a written quote of benefits (QOB) typically within 24 to 48 hours to you and/or your patient for all pre-verification requests. If we learn that Pre-Authorization is required, we will submit all required information and report the outcome to you. At your request, we can also work directly with the patient. This service is available either before or after the patient's specimen is sent to us. There are no charges if the patient decides to cancel testing because of out of pocket expenses.

What this means - We will do the insurance work for you. Simply complete our Pre-Verification/Pre-Authorization Request Form, and we'll do the rest. We'll also let you or the patient know the details in writing, including max out of pocket costs regardless of the amount. No billing surprises. No cancellation fees.

Insurance Claim Filing - We will file an insurance claim with any commercial insurance company on behalf of your patient if insurance billing is selected on the test requisition form.

What this means - Once testing is complete, we will file an insurance claim. We follow-up promptly with the insurance company to ensure all information is filed and the claim is closed in a timely fashion. We keep the patient informed of the status of their insurance claim through a monthly statement.

Interest-Free Payment Plans - We offer interest-free payment plans for the balance due from the patient.

What this means - To help your patients get the test they need, no payment is required upfront. We are flexible and work with them to establish a payment plan that fits their situation without any finance charges or other surprise fees.

Financial Hardship Program - We believe cost should not be a deterrent for receiving valuable genetic information. In order to accomplish this goal, we have set aside funds to distribute among patients in need of financial assistance. We work with providers and patients to allocate funds on a case by case basis, in a manner that maximizes the benefit for as many patients as possible.

What this means - On a case by case basis we can help patients with financial hardships. There are no application forms or hassles, just a conversation with our team.

Commitment to Utilization Management (UM) - Our entire team is committed to making sure that the most appropriate and cost effective test is performed. Multiple review steps are in place to maximize UM.

What this means - Healthcare savings that are passed on to patients. We will always do our best to make sure that patients receive only the testing they need. To read a few recent UM case examples where we saved thousands of healthcare dollars, click here.

Customizable Test Menu - We offer flexible testing options including reflex testing, targeted testing, panel testing and will soon have a tool for building custom panels. If you don't see what you need on our test menu, contact our Client Services Team (clinicalDNAtesting@preventiongenetics.com) and we may be able to create a custom option to fit your needs.

What this means - Testing options fit your patients' needs rather than making your patients fit available tests.

Discounted DNA Banking - DNA banking is available for a one time fee of $149. Patients who have testing performed at PreventionGenetics can bank their DNA for a discounted rate of $98.

What this means - Patients can store their DNA at PreventionGenetics for any future or additional testing at a low one-time fee.


Holiday Shipping Schedule

In observance of the upcoming holidays, PreventionGenetics will not be receiving specimens on Monday, December 26, or Monday, January 2. Please also note that if you are using our shipping kits, the return labels will NOT work for Saturday delivery. Please avoid sending cell cultures to arrive Friday, December 23rd or on Saturdays. Please consider this when shipping over the holidays, and contact us regarding any time-sensitive or prenatal specimens. Happy Holidays from all of us at PreventionGenetics.


DNA Banking, the best gift you can give your family

As professionals in the field of genetics, you appreciate the value of genetic testing. Some of you have recommended DNA banking to your patients because you believe in the value that DNA banking provides. But what about your own family?

Holidays are a time when families gather to celebrate. We share a lot with our families, including our DNA. The Surgeon General has declared Thanksgiving Day Family Health History Day. We bet that most of you already know quite a bit about your family's health history, so this year, consider taking this to the next level by preserving that history and your own family's genetic legacy with DNA Banking.

Advances in sequencing technologies have broadened our field in the past several years, allowing us to gain a better understanding of our own genetic story now and in the future. PreventionGenetics' DNA Banking service, PGDNABank, is committed to offering secure storage of your DNA for a minimum of 50 years. There are no annual maintenance fees, and DNA can be withdrawn for testing at any time.

Some of the best gifts can't be wrapped. Bank your family's DNA with us this holiday season.

For more information, visit our DNA Banking website, PGDNABank.com.


Finding Answers: Comprehensive Miscarriage, Stillbirth & Neonatal Death Panel

When families experience miscarriage, stillbirth, and neonatal deaths, there are often many difficult questions. Why did this happen? Will it happen again? Is there anything that could have prevented the outcome? At PreventionGenetics, we are dedicated to helping answer these questions.

Losses Are Common

Miscarriages occur in 15% of clinically recognized pregnancies. Although the majority of these losses occur early, 2-3% are in the second trimester (van den Berg et al. 2012; Hardy and Hardy 2015). Stillbirths occur in approximately 1 in 160 pregnancies in the United States (Wou et al. 2014). Neonatal death affects approximately 4 million babies annually worldwide (Jehan et al. 2009).

Genetic Causes

At least 50% of early miscarriages, 25% of stillbirths and 20% of neonatal deaths are due to abnormalities of the developing infant, most of which have a genetic basis. Genetic testing is important because many of these birth defects are difficult to recognize clinically. There are two major categories of genetic etiology for miscarriage, stillbirth, and neonatal death: chromosome abnormalities including triploidy, common aneuploidies (chromosomes 13, 18, 21, and X), other chromosomal imbalances (Wapner 2010), and single gene disorders, including, but not limited to, fetal akinesia syndrome, metabolic disorders, glycogen storage disorders, Noonan syndrome, and sudden cardiac death disorders (Wapner 2010; McPherson and Cold 2016; Sahoo et al. 2016).

Our Panel

The Comprehensive Miscarriage, Stillbirth, and Neonatal Death Panel includes Chromosomal Microarray (CMA-ISCA) followed by the 40 gene NextGen sequencing panel in cases with a normal microarray result.

Chromosomal microarray (CMA) testing has been suggested as a first line test in both miscarriages and stillbirths because it does not require growing cells, as karyotyping does, and it will also detect submicroscopic imbalances (Reddy et al. 2012; American College of Obstetricians and Gynecologists 2013; Sahoo et al. 2016). If this is negative, the test would reflex to the 40 gene panel of single gene disorders.

The 40 gene NextGen sequencing panel was developed under collaboration between dual-certified molecular geneticist and cytogeneticist, Dr. Diane Allingham-Hawkins, and Dr. Elizabeth McPherson, experienced Medical Geneticist and Director of the Wisconsin Stillbirth Service Program, who has more than 30 years of experience evaluating stillbirths and neonatal deaths. This one-of-a kind panel encompasses several classes of genetic disorders that would be expected to increase the risk of miscarriage, stillbirth, or neonatal death. Disorders include Fetal Akinesia/Lethal Multiple Pterygium syndrome, Smith-Lemli-Opitz syndrome (SLOS), Noonan Spectrum Disorders, Peroxisomal Disorders, Glycogen Storage Disorders, and Long QT Syndrome.

Our Testing Strategy

As a gold sponsor of Seattle Children's Pediatric Laboratory Utilization Guidance Services (PLUGS®), we are proud to offer cost-effective testing strategies that align with utilization management best practices

If the CMA-ISCA tier of testing is positive, we charge only for that test ($990). If the full panel is performed and is negative ($2580), a reflex to PGxome may be ordered for an additional $990.

Chromosomal microarray (CMA-ISCA Test Code 2000, $990) and the Miscarriage, Stillbirth, and Neonatal Death NextGen Sequencing Panel (Test Code 4777, $1590) may also be ordered individually.

Specimen Types

Our testing has been validated using whole blood (3-5 ml EDTA), umbilical cord blood (3-5 ml), fetal cell cultures (3-4 confluent T25 flasks from chorionic villus or amniocentesis cultures), DNA (5 ug at a concentration of at least 100 ng/ul), and fresh or frozen fetal tissue, including fetal placenta (2mm x 2mm x 2mm). As in all of our tests where there are risks for maternal cell contamination, we offer maternal cell contamination studies as a quality control measure for no additional cost.

DNA Banking

Finding answers in tough situations is our expertise. However, at times, extensive testing may still leave unanswered questions. DNA Banking for Fetal Concerns is another service that we offer, which may provide hope for the future.

Help your patients find answers. Put Us To The Test.

References

American College of Obstetricians and Gynecologists. 2013. ACOG committee opinion. Washington, DC: American College of Obstetricians and Gynecologists.

Hardy K., Hardy, P.J. 2015. Translational Pediatrics. 4: 189-200. PubMed ID: 26835373

Jehan I. et al. 2009. Bulletin of the World Health Organization. 87: 130-8. PubMed ID: 19274365

McPherson E., Cold C. 2016. American Journal of Medical Genetics. Part A. 170A: 52-9. PubMed ID: 26373818

Reddy U.M. et al. 2012. The New England Journal of Medicine. 367: 2185-93. PubMed ID: 23215556

Sahoo T. et al. 2016. Genetics in Medicine. 0: N/A. PubMed ID: 27337029

van den Berg M.M. et al. 2012. Biochimica Et Biophysica Acta. 1822: 1951-9. PubMed ID: 22796359

Wapner R.J. 2010. Clinical Obstetrics and Gynecology. 53: 628-34. PubMed ID: 20661047

Wou K. et al. 2014. BMJ Open. 4: e004635. PubMed ID: 24902725


Value has improved for our Noonan Spectrum Disorders/Rasopathy Panel

We're excited to announce that our Noonan Spectrum Disorders/Rasopathy panel now has additional genes and a new lower price. We now offer testing for 15 genes in the RASopathy pathway. The genes on this panel were carefully selected to optimize Clinical Sensitivity while keeping VUS rates low. Equally exciting, we have reduced the cost of this panel to $1290. With our continued exceptional quality along with reduced cost, the value of our panel continues to increase.

We believe in transparency. See our comprehensive Test Description for more details of our Noonan Spectrum Disorder/RASopathy panel.

Like all of our tests, our Quality & Value sets us apart from competitors. Dr. Khemissa Bejaoui has extensive expertise with nearly a decade of experience in variant interpretation of the RASopathy pathway. She has studied hundreds of variants in the pathway resulting in top quality interpretations. Her goal is to "improve patient care and quality of life, through accurate and early diagnosis". For more information about Dr. Bejaoui, visit our Senior Staff page.

It is our commitment to bring high quality tests to all your patients. For this NextGen sequencing panel, we typically see average coverage of about 300x, with a minimum acceptable coverage of 20x. We backfill with Sanger sequencing for any low coverage or non-unique regions. Further, all pathogenic likely pathogenic and uncertain variant calls are confirmed by Sanger sequencing, allowing more cost-effective family follow-up through Targeted Testing.

As a gold sponsor of PLUGS©, we practice active Utilization Management. We believe in providing the right test to the right patient, and that includes routine preview of each test ordered. For this panel we generally recommend starting with sequencing and reflexing to del/dup only if negative. The panel is more cost effective than performing testing via Sanger sequencing for any one gene individually.

Put our Noonan Spectrum Panel to the test!


Expanded Kidney Test Menu - Teamwork Increases Value of Genetic Testing

We are excited to announce additions to our menu of genetic tests for kidney disorders. PreventionGenetics provides a comprehensive menu of kidney and endocrine system tests, with the same unsurpassed quality as all our tests. Our kidney test menu includes:

It is our commitment to bring high quality tests to all your patients. For these NGS panels, we typically see average coverage of about 400x, with a minimum acceptable coverage of 20x. We backfill with Sanger sequencing for any low coverage or non-unique regions. Further, all pathogenic and uncertain variant calls are confirmed by Sanger sequencing, allowing more cost-effective family follow-up through targeted testing.

Performing the correct test for each patient is important to us. Below is a recent case for Alport syndrome that demonstrates teamwork between our lab, the clinician and the patient.

A patient with Alport Syndrome was in need of a kidney transplant. The clinician sent his patient's specimen to PreventionGenetics for testing and ordered the full Alport Syndrome panel along with del/dup testing. During the test preview process, Dr. Wuyan Chen and our Genetic Counseling team discovered that a pathogenic variant in the X-linked gene COL4A5 had already been identified through a research study of the patient's family.

With permission from the ordering clinician, we were able to convert the panel test to targeted testing resulting in a cost-savings of over $2000. After confirming the pathogenic variant in the affected patient, we were able to provide assurance to the family and clinician that the patient's son (potential organ donor) was not at risk for Alport's syndrome. An invasive kidney biopsy was avoided for the son, adding even more value.

By working together, we were able to provide the best outcome for the patient and his family. The patient, his family and his clinicians offered gratitude for PreventionGenetics' outstanding customer service and utilization management. As a gold sponsor of Seattle Children's Pediatric Laboratory Utilization Guidance Services (PLUGS®), which shares our values, we are proud to offer the same unsurpassed level of quality and service to all our patients.

Keep up-to-date with any new test releases by subscribing to our "New Test" emails and newsletters. Please contact us with questions or if you are interested in any test that you are unable to find on our Test Menu.

Put us to the Test!


Opening Doors to Diagnosis: Chromosomal Microarray

We are pleased to announce new reduced pricing for our Chromosomal Microarray (CMA). CMA is often used as a first-tier test for clinical diagnosis of patients with idiopathic intellectual disability, developmental delay, autism spectrum disorders and/or multiple congenital anomalies (Miller, D.T. et al. 2010).

Chromosomal Microarray, Test Code 2000, $990

Our chromosomal microarray test, CMA-ISCA, combines a total of 180,000 CGH and SNP probes to detect microdeletion and microduplication syndromes as well as regions with absence of heterozygosity (AOH) and uniparental disomy (UPD). The inclusion of SNP probes along with CNV probes improves the diagnostic yield of a CMA test.

We understand your patients are small and their blood is precious. By offering the most comprehensive sequencing menu in the U.S., additional molecular testing work-up can be ordered conveniently through one facility using the original patient specimen. Our reports are complete including lists of strong candidate genes for recessive disease within AOH regions.

We are committed to providing comprehensive, high quality, and affordable testing. We strive to provide the majority of tests results within 20 calendar days to aid in quicker clinical diagnosis.

At PreventionGenetics, we have all your testing needs under one roof. Open doors to your patient's diagnosis starting with our chromosomal microarray. Put us to the Test!


Cancer

We are pleased to announce that our cancer predisposition test prices have taken a hit and are down for the count.

HEREDITARY BREAST AND OVARIAN CANCER (Seq & Del/Dup, 2 genes) Test 1949 $990

HEREDITARY BREAST AND OVARIAN CANCER- HIGH RISK (Seq & Del/Dup, 8 genes) Test 1305 $1090

HEREDITARY BREAST AND OVARIAN CANCER- EXPANDED (Seq & Del/Dup, 20 genes) Test 1307 $1190

LYNCH SYNDROME (Seq & Del/Dup, 5 genes) Test 1325 $990

COLORECTAL CANCER (Seq & Del/Dup, 17 genes) Test 1975 $1190

CANCER (Seq & Del/Dup, 35 genes) Test 1355 $1390

We are reducing our prices but not our value. You will receive the same high quality and excellent service you have come to expect from PreventionGenetics. We are able to offer these price reductions because of changes in lab methodology and increases in test volume. We provide full coverage for all panels and free VUS family studies.

In addition to these price reductions, we continue to offer multiple patient-friendly billing options. For select cancer panels, patients are only responsible for any unmet deductible, co-insurance, or co-payment amount. These reduced prices mean an even better value and lower cost to patients. Please see our Cancer Billing Policy or contact us for more information.

PreventionGenetics takes cancer testing seriously and offers a comprehensive menu of tests for hereditary cancers. For a full list of cancer tests, click here. We also offer targeted testing starting at $250. Our DNA banking services offer long-term storage of DNA for future testing.

Let PreventionGenetics' reputation for quality set the standard for all of your testing needs. Put our cancer panels to the test!


PGDNABank

PreventionGenetics is pleased to announce the launch of our new PGDNA Banking website! Created for the general public, PGDNABank.com is designed to help educate patients and providers about the value and process of DNA banking.

Banking DNA at PreventionGenetics can be an enormous benefit to individuals and their family members. DNA banking has the ability to lower healthcare costs, find answers to medical questions, and supply the information necessary to confirm a diagnosis. Banking DNA is the key to preserving an individual's genetic legacy for future generations in his or her family. Our hope is that through this user-friendly website we will raise awareness about DNA banking and motivate people to invest in their future health by banking their DNA.

PGDNABank.com explains what DNA banking is, details the simple process of banking DNA, provides consumer testimonials, and illustrates how PreventionGenetics is a market leader for this valuable investment. Please check it out and share it with your patients, colleagues, friends, and your own family. Join us on our journey to raise awareness of DNA Banking.


Diagnosis Through the Power of Many: PGxome Now Available

We are excited to announce the launch of PGxome, PreventionGenetics' whole exome sequencing test!

Using NextGen sequencing technology, PGxome assesses almost all genes from the human genome including coding regions and adjacent introns. As our distinguishing quality feature, variants identified in the ~3,500 genes known to be involved in Mendelian disorders are first manually reviewed by MD and PhD geneticists who have specialization in specific disease areas to ensure appropriate variant classification. This specialty-focused approach harnesses the collective knowledge and experience of many Geneticists in collaboration, and through the power of many, we are able to help accurately determine your patient's diagnosis.

PGxome is intended for health care providers who are looking for a genetic diagnosis when the clinical phenotype is unclear and/or when previous test results have been uninformative. This is especially important given that over 50% of patients with genetic diseases are not given a specific diagnosis even after repeated clinical examinations and tests (Shashi et al. 2014).

PGxome includes testing of trios (typically the patient and both biological parents) in order to provide the highest probability of identifying a genetic explanation for the patient's phenotype. Approximately 20-40% of patients will receive a diagnosis or suspected diagnosis from this testing (Atwal et al. 2014; Iglesias et al. 2014; Farwell et al. 2015). The patient and/or patient's family is also given choices to opt in or opt out of receiving information on particular types of secondary findings. This customization allows us to provide the most valuable and appropriate results for each patient's needs. For more details regarding PGxome, click here.

To order testing, see our PGxome Test Requisition Form and Consent Form.

Use the power of many to end your patients' diagnostic odyssey. PGxome: Put us to the test!


ISO Certification

PreventionGenetics is pleased to announce that in addition to being a long standing CLIA certified laboratory through CAP, we are now also ISO 15189 accredited by the American Association for Laboratory Accreditation (A2LA) (certification number 3950.01).

ISO 15189 is an internationally recognized standard specifying requirements for quality and competence in medical laboratories (www.a2la.org). Rigorous quality measures must be implemented and documented in a lab to earn this achievement.

These standards promote competence and responsibility in medical laboratory processes, equipment and outcomes. Implemented in over 200 countries, the process involves testing the effectiveness of laboratory equipment and the impact those particular equipment have on the processes in the labs and their outcomes. ISO 15189 provides verification to compliance of quality standards accepted worldwide. PreventionGenetics receives specimens from over 71 countries and utilizes ISO 15189 standards in all clinical testing.

An ISO 15189 certification is considered a critical initiative for harmonizing global practices in medical laboratories towards a common measure of quality assurance and safety. The approach takes into account interpretation of test results, the method of patient specimen collection as well as the time required for the tests to be carried out.

Upon completion of the inspection of PreventionGenetics, assessors indicated that they wouldn't hesitate to send specimens to our facility, which is perhaps the best possible compliment.

With over 1800 individual gene tests in addition to Whole Exome Sequencing and our commitment to high quality as evidenced by our ISO 15189 certification, we are confident that we can meet ALL of your genetic testing needs.

Click here to see the scope of our accreditation.

Put us to the Test.


3... 2... 1... We just launched our new website!

We are pleased to announce the launch of our new website. We've repeatedly heard compliments on our transparency of prices and usability of our former website. We've even been told by genetic counseling graduate students that our site rated #1 against competitors when they've had to study and compare information available on the web. However, we've been working hard to make our site even better.

Here's a few highlights of our new site:

  • New Disease by Categories page. For example, find all our cancer or cardiology tests in one place.
  • Full integration with myPrevent, our testing portal.
  • Consolidated Forms Tab to find all of our Test Requisition Forms and Billing & DNA banking paperwork.
  • Easy access to order clinical testing kits.
  • Improved search feature to display method and most cost-effective pricing information quickly.
  • Increased usability. Pricing, CPT codes and clinical sensitivity information will be prominently displayed within each Test Description.

If you have any questions or feedback for our team, please don't hesitate to contact us.


Our Del/Dup Menu Just Doubled in Size with Lower Prices

We're excited to announce that our del/dup menu has doubled. We now offer deletion/duplication testing for over 1500 genes via custom, gene-centric aCGH. Even more exciting is a reduction in the cost of these tests. With our continued exceptional quality and a reduced cost, the value equation of our del/dup testing just got a lot better.

QUALITY

Our method (gene-centric aCGH) is designed to have comprehensive coverage for coding regions (18 bp median probe spacing) and non-coding regions (87 bp median probe spacing) for each targeted gene and includes coverage of all transcripts. Our new probe spacing offers a 40-50% improvement from our previous array platform. We also include probe coverage 5 kb upstream and downstream which improves from 2 kb previously. We were always able to detect copy number variations down to the single exonic level, but we now expect these quality enhancements to further improve our detection sensitivity.

Other benefits of choosing PreventionGenetics' aCGH testing includes:

  • All positive results are confirmed using PCR or qPCR.
  • Targeted testing of family members when the proband is tested at PreventionGenetics may be available for as low as $340.
  • Large menu of sequencing tests is available to complement del/dup testing.
COST

Efficiencies in our laboratory have allowed us to reduce the cost of our del/dup tests. We are committed to passing these savings along to our valued clients.

Our reduced pricing will apply to specimens received as of March 14, 2016.

Number of genes ordered Total Price
1 $690
2 $730
3 $770
4-10 $840
11-30 $1290
31-100 $1670
Over 100 Call for quote

The new pricing structure reduces the cost of all del/dup tests via aCGH, with a reduction of up to 50% for larger panels.

UTILIZATION MANAGEMENT

As a gold sponsor of PLUGS©, we practice active utilization management. We believe in providing the right test to the right patient, and that includes routine preview of each test ordered. For most genes, we recommend starting with sequencing and reflexing to del/dup if indicated. There are, however, some genes where clinical sensitivity is higher by starting with del/dup testing. Some of these genes are listed below:

SHOX: 70-75% deletions

DMD: 65-75% deletions/duplications

RAI1: 90-95% deletions

EHMT1: 75% deletions


Put Us To The (Del/Dup) Test.


We're working on an explosion of NextGen sequencing panels!

On a weekly basis, PreventionGenetics adds new tests to our menu as we move toward comprehensive coverage of all clinically relevant genes. To lower costs, we've made a concerted effort to convert our smaller Sanger sequencing panels to NextGen sequencing platforms. We are also developing dozens of new NextGen sequencing panels, which include skeletal, ocular, neuromuscular and many more disorders.

Here's a sneak peek with what to expect in the coming weeks:

  • 3-Methylcrotonyl-CoA Carboxylase Deficiency

  • Achromatopsia

  • Alzheimer's Disease, Familial

  • Amyotrophic Lateral Sclerosis (ALS), Classic

  • CHARGE Syndrome

  • Cohen Syndrome

  • Colorblindness

  • Dent Disease

  • Ectodermal Dysplasia

  • Familial Hypercholesterolemia

  • Glutaric Acidemia Type II

  • Hereditary Hemorrhagic Telangectasia

  • Hereditary Multiple Osteochondromas

  • Hereditary Xerocytosis

  • Homocystinuria

  • Hydrocephalus, Autosomal Recessive, Non-syndromic

  • Hypermethioninemia

  • Hyperphenylalaninemia

  • Kallman Syndrome

  • Leukoencephalopathy with Vanishing White Matter

  • Maple Syrup Urine Disease

  • Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC)

  • Meier-Gorlin Syndrome

  • Methylmalonic Acidemia

  • Methylmalonic Aciduria and Homocystinuria

  • Mucopolysaccharidosis Type III

  • Nephrogenic Diabetes Insipidus

  • Neurofibromatosis Type I and Legius Syndrome

  • Niemann-Pick Disease Type C (NPC)

  • Omenn Syndrome

  • Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy

  • Propionic Acidemia

  • Retinitis Pigmentosa, X-linked

  • Rotor Syndrome

  • Sitosterolemia

  • Spondylocostal Dysostosis

  • Thalassemia

It is our commitment to bring high quality, comprehensive tests to your patients. We backfill with Sanger sequencing for any low coverage or homologous regions to ensure complete coverage of all coding exons of genes offered in our NGS panels. Our average coverage for all NGS tests is 180-200x, with a minimum acceptable coverage of 20x. Further, all pathogenic, undocumented and questionable variant calls are confirmed by Sanger sequencing and follow-up family testing can be offered through targeted testing.

Keep up-to-date with any new tests released by subscribing to the "New Test" emails via the link on our homepage, or by emailing us at newtests@preventiongenetics.com. Additionally, we send out a quarterly newsletter with information about new tests; you can sign-up to receive our newsletter by visiting the link on our homepage. Please contact us with any questions or if you are interested in a particular test that we do not currently offer.


Put Our NextGen Sequencing Panels To The Test.


Our Cardiology Test Menu Has Grown

Around one in every four deaths in the United States is from heart disease, making it the leading cause of death for both men and women (CDC, 2015). Although many environmental factors lead to heart disease in individuals, we know there are several hereditary forms that when identified early, can lead to better outcomes. At PreventionGenetics, we strive to offer comprehensive molecular testing for inherited heart disease to aid in earlier diagnosis and therefore lead to a reduction in morbidity and mortality.

Our cardiovascular disorders Next-Generation sequencing panels are featured below:

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Panel - 9 genes (Test #1315)

Brugada Syndrome NextGen Sequencing Panel - 16 genes (Test #2603)

Catecholaminergic Polymorphic Ventricular Tachycardia Panel - 8 genes (Test #1311)

Comprehensive Cardiac Arrhythmia Panel - 46 genes (Test #2607)

Dilated Cardiomyopathy Panel - 32 genes (Test #1339)

Hypertrophic Cardiomyopathy Panel - 15 genes (Test #1313)

Left Ventricular Noncompaction Panel - 9 genes (Test #1333)

Long QT Panel - 15 genes (Test #2601)

We also offer many other tests related to congenital heart disease, which can be found by searching our test menu. Please contact us if you have interest in a particular test not currently on our menu. The test could already be in development and available soon..

Take advantage of our DNA banking services. A one time fee of $149 includes storage for a minimum of 50 years, providing access for future testing needs.

PreventionGenetics "hearts" our clients, patients, and their families, so let's team up to establish a diagnosis and bank DNA to prevent the morbidity and mortality related to hereditary heart disease.

Reference:

CDC, NCHS. Underlying Cause of Death 1999-2013 on CDC WONDER Online Database, released 2015. Data are from the Multiple Cause of Death Files, 1999-2013, as compiled from data provided by the 57 vital statistics jurisdictions through the Vital Statistics Cooperative Program. Accessed Jan. 28, 2016 from CDC website.


Introducing myPrevent, Our New Online Client Portal!

We are excited to announce the release of myPrevent, our online portal! MyPrevent gives you the opportunity to:

  • Search and order tests electronically
  • Retrieve reports electronically - via Sharefile
  • Share test requisitions among colleagues
  • Access previous patient requisitions in a centralized, online location

To get started, click on the "myPrevent" tab at the top right of your page. This will bring you to our Login page where you can create an account. Once your account is created, you will receive a confirmation email, which will bring you back to the Login page where you can Login and begin ordering! There is a Support tab located on the homepage of the myPrevent Portal that includes a "Getting Started Guide" and "Results Help". These pages cover the basics of using the site, ordering tests, and retrieving patient reports.

We hope that you will find myPrevent to be helpful and efficient in ordering tests for your patients. Please let us know if you have any suggestions, questions, or comments by contacting us at clinicaldnatesting@preventiongenetics.com.


February 29th is Rare Disease Day

Monday, February 29 is Rare Disease Day, however for those of us working in a DNA testing lab, every day is Rare Disease Day. At PreventionGenetics, we offer genetic testing for over 1500 genes associated with various genetic conditions. Our test menu is the most comprehensive in the United States, with offerings spanning from Aarskog-Scott syndrome to Xeroderma Pigmentosum. While we provide testing for the more "common of the rare" genetic conditions, we also offer testing for the "rarest of the rare" genetic conditions, knowing that availability of diagnostic tests for these conditions are important even if they are not "high volume" tests.

Put us to the test, and check out our Test Menu. If you can't find what you are looking for, contact us!

From all of us at PreventionGenetics, we appreciate your efforts to help diagnose and care for individuals and families with rare genetic disorders.


Meet Our Genetic Counseling Team

2015 has been a year of growth for PreventionGenetics. This year we have expanded our Genetic Counseling team to include four U.S. based laboratory Genetic Counselors, and one based in Canada.

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2015 marks the hiring of our first remote Canadian employee, Rachel Vanneste, MSc, CGC, CCGC.

Rachel Vanneste, MS, CGC, CCGC is our Canada-based Technical Product Sales Representative. Rachel obtained her BSc in Biochemistry from the University of Saskatchewan and went on to complete an MSc in Genetic Counseling from McGill University in Montreal in 2008. In 2009, she obtained both her Canadian and American certification. For the first seven years of her career, Rachel worked as a prenatal genetic counsellor and was extensively involved in the training and supervision of genetic counselling students. Given that she trained, and later worked, in a bilingual environment, her Masters project looked at how the effects of second language usage impacts genetic counselling training and supervision. She continued to advocate for bilingual counsellors through chairing both the CAGC's French Language and Website committees. She was also one of the co-creators of www.lexigene.com, an online French/English lexicon with terms related to the genetic counselling profession. In her new position, she is excited to serve the Canadian Genetics community by being an ambassador for PreventionGenetics, to help ensure that Canadian patients have access to high quality genetic tests. Although based out of Saskatoon, Saskatchewan, she looks forward to meeting many of her Genetics colleagues across Canada as she continues in this role.

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Christina Zaleski, MS, CGC (Top) is our Director of Genetic Counseling and Client Services. Christina earned her Bachelor of Science degree in biology, with a psychology minor, from the University of Wisconsin-Eau Claire in 1996. She earned a Master of Science degree in human genetics/genetic counseling from Sarah Lawrence College in New York in 1999. After graduation, she continued the research work that she started as a student for Rockefeller University on mental illness in South Africa. She then returned to her home town of Marshfield, Wisconsin and worked at the Marshfield Clinic as lead genetic counselor for 13 years. Christina came to PreventionGenetics in 2012 with an extensive range of experience in genetic counseling, leadership, and a passion for service development and teaching. She has practiced in many areas including prenatal, pediatric, cancer, specialty clinics, stillbirth evaluations, child protective team, research, teaching, administration, and public health education. Highlights of her career include receiving 2007 Leadership Award for Excellence in Community Service from the March of Dimes, and being nominated by her peers as a Master Genetic Counselor in 2010.

Gina Londre, MS, CGC (Left) is one of our Laboratory Genetic Counselors. She earned her Bachelor of Science degree in Biology from the University of Minnesota-Twin Cities in 2011. She earned a Master of Science degree in Genetic Counseling from Wayne State University in Detroit in 2013. Her research in graduate school focused on clinicians' ability to accurately identify patients at an increased risk of cancer through use a risk assessment tool developed by the Michigan Department of Community Health. In 2014, she obtained her board-certification through the American Board of Genetic Counseling. Gina joined the genetic counseling team at PreventionGenetics right after completion of her master's degree and has been with the company since contributing by developing client relationships, managing challenging cases, and representing the company at conferences. She most enjoys her role with the company because providing high quality service to ordering clinicians ultimately impacts the wellbeing of the patient.

Megan Nelson, MS, CGC (Bottom) is one of our Laboratory Genetic Counselors. She has a Bachelor of Science degree in Cell and Molecular Biology from the University of Wisconsin-Oshkosh. She earned her Master of Science degree in Medical Genetics from the University of Wisconsin-Madison in 2010. Her research focus in graduate school was analyzing how cystic fibrosis clinics from across the nation were handling intermediate sweat test results. Megan has five years of clinical genetic counseling experience in Wisconsin. She established a genetics department in a community hospital as a new graduate, and she also has experience in a regional cancer center. Megan is excited to be able to bring her clinical experiences to the genetic testing laboratory setting to further patient care. She enjoys interacting with the many genetic counselors and physicians who reach out to PreventionGenetics.

Connie Schultz, MS, CGC (Right) is one of Laboratory Genetic Counselors. Connie received her Master of Science degree in Medical Genetics from the University of Wisconsin Madison in 1994. She has Bachelor of Science degrees in both Biology and Psychology from the University of Wisconsin River Falls. Connie began her career in the laboratory doing medical research on microsatellite instability in breast cancer patients, followed by the study of avian neural crest cell development. She then moved to a clinical histocompatability and immunogenetics laboratory matching organ and marrow donors with recipients. Since completing her genetic counseling degree she has accumulated over 2 decades of additional relevant experience; providing clinical genetic counseling in prenatal, oncology, thrombophilia, neuromuscular and neurogenetics. She has extensive experience as part of multidisciplinary teams, and played significant roles in the review of genetic testing for compliance with genetic testing policies prior to joining PreventionGenetics. Connie has also developed and implemented genetic testing policies in both clinical and insurance settings. She has coordinated clinical experiences and provided student supervision for genetic counseling interns and family medicine residents. Connie has come full circle and is thrilled to now use her strong clinical background, research experience and expertise in policy development and compliance to assist providers in making informed genetic testing decisions for their patients as part of the team at PreventionGenetics.


Registry for Bardet-Biedl Syndrome

As a provider of comprehensive Bardet-Biedl syndrome (BBS) testing and a supporter of groups that advocate for genetic disorders, we would like to take the opportunity to raise awareness for a new registry for patients with BBS. The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is an international registry examining the natural history of BBS and is directed by a local colleague and dedicated provider, Robert Haws, MD, from the Marshfield Clinic.

The mission of CRIBBS is to promote research that will improve the health and quality of life of individuals affected by BBS. The registry is endorsed and funded by the Bardet-Biedl Syndrome Family Association. We invite you to learn more about CRIBBS at www.bbs-registry.org.


September is Ovarian Cancer Awareness Month

In 2010, Congress declared the last week in September, the transition week between Ovarian Cancer Awareness Month and Breast Cancer Awareness Month, as Hereditary Breast and Ovarian Cancer (HBOC) Week. Falling in the middle of the week is National Previvor day, Wednesday September 30th. Both of these were established largely in part by the efforts of the Facing Our Risk of Hereditary Cancer Empowered ( FORCE) organization.

FORCE estimates that of the nearly 750,000 Americans that carry a mutation for HBOC, nearly 90% are unaware they have an increased risk for these cancers. Genetic testing can help families know their risks, but when testing does not yield answers, DNA banking can also be an important resource for families to consider.

PreventionGenetics offers a variety of clinical testing options for Hereditary Breast and Ovarian Cancer, including targeted family studies when a causative variant has been found. Testing options include:

Hereditary Breast and Ovarian Cancer Syndrome NextGen Sequencing and Deletion/Duplication: BRCA1, BRCA2 ( Test #1949) $1,790

Hereditary Breast and Ovarian Cancer Syndrome - HBOC Expanded NextGen Sequencing Panel: ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, NBN, PALB2, PTEN, RAD51C, STK11, TP53 ( Test #1307) $2,490

Hereditary Breast and Ovarian Cancer Syndrome - HBOC High Risk NextGen Sequencing Panel: BRCA1, BRCA2, CDH1, PALB2, PTEN, RAD51C,STK11,TP53 (Test #1305) $1,990

Cancer NextGen Sequencing Panel: APC, ATM, BRCA1, BRCA2, BAP1, BLM, BMPR1A, BRIP1, BUB1B, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, KIT, MET, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, VHL, WT1 ( Test #1355) $2,990

Targeted testing is available for one or multiple variants; Test codes and prices are as follows:

  • Test Code 100, Targeted Family Mutation-1 variant, $250

  • Test Code 1400, Targeted Family Deletion/Duplication, $340

We offer a custom billing policy for qualified cancer tests, for more information click here.

For more information about FORCE and HBOC Week, visit www.facingourrisk.org.


Newborn Screening Awareness

Each year, millions of babies are routinely screened for certain genetic, metabolic, and endocrine disorders prior to discharge from a birthing center or hospital using only a few drops of blood from the newborn's heel.

For disorders on newborn screening panels, genetic testing decreases morbidity and mortality from genetic disease and improves quality of life. In some cases, disease and disability may be prevented entirely, while in other cases it may only be currently possible to delay the onset or reduce the severity of disease. To put it simply, newborn screening can save babies' lives and provide them a healthier start in life.

Our test menu offers testing for over 1000 genetic conditions, including nearly all disorders on the various newborn screening panels. See our Newborn Screening Test Menu next time your patient needs genetic testing in follow-up to a positive newborn screen.

At PreventionGenetics, we have a deep appreciation for the importance of early diagnosis and treatment. Preventing morbidity and mortality from genetic disorders is our mission.

Our Director of Genetic Counseling, Christina Zaleski, also has a very personal reason to be thankful for newborn screening programs. To read about her story, click here.

PreventionGenetics: Disease Prevention Through Genetic Testing.


Are You ICD-10 Ready?

ICD-10 codes will replace ICD-9 codes to report medical diagnoses effective October 1, 2015. Claims for services provided on or after October 1, 2015 are required to be submitted with ICD-10 diagnosis codes, while claims for date of service before October 1, 2015 should continue to use ICD-9 codes. PreventionGenetics is ICD-10 ready. To access "ICD-10 Code Lookup" please see cms.gov site. If you have questions, please contact our Insurance Team.