In a world where genetic testing is increasingly becoming a crucial tool for understanding health risks and conditions, Ambry Genetics emerges as a significant player in this field. Established in 1999, the company specializes in a range of genetic tests, from hereditary cancer to neurological conditions. This review aims to provide an unbiased overview of Ambry Genetics, exploring its services, processes, and policies. We will look at how it conducts genetic testing, the types of tests offered, the ordering process, and its approach to privacy and pricing, helping you make an informed decision about using its services.
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Ambry Genetics Services
Ambry Genetics, founded in 1999 by Charles Dunlop, is a genetic testing and diagnostic company. Currently led by Dr. Aaron Elliot, as a part of Konica Minolta Precision Medicine, Ambry has its headquarters in Aliso Viejo, CA, USA. Its labs are CLIA/CAP-certified.
Ambry was the first lab to offer BRCA testing and complete gene sequencing services since 2001. With its CLIA/CAP-certified SuperLab, Ambry currently provides the following genetic tests:
- Cardiac conditions
- Neurological conditions
- Hereditary cancer
- Other rare genetic conditionsÂ
- Reproductive health
Ambry offers services only for patients residing in the United States.
It does not sell test kits directly to consumers to provide raw DNA data.
So, to avail of genetic testing services with Ambry Genetics, you need to contact a healthcare provider first.
Ambry Genetics offers free genetic counseling for people who test positive for a clinically significant mutation associated with cancer.
The company also provides other counseling aids and tools on its website to help explain the test results.
Apart from these, Ambry also offers an added-on RNA testing feature, which provides more accurate and actionable results than DNA testing alone.
RNA is a molecule similar to DNA but single-stranded. RNA is directly involved in protein production.Â
Ambry Genetics For Patients
The first stop to avail this service is a healthcare practitioner. Once they determine that you are at risk for a particular genetic condition, they will recommend an appropriate test.
Hereditary Cancer Test
About 10% of cancer cases are hereditary, and the mutation(s) contributing to cancer can be traced through genetic testing.
If you have a strong family history of cancer, your doctor may recommend this panel for you.
This panel tests for the following types of cancer:
- Breast cancer
- Gastrointestinal cancer
- Gynecological cancer
- Prostate cancer
- Other types of cancer like melanoma
Cardiology Test
The term heart disease encompasses several conditions that affect heart health. Out of this, some are caused due to genetic mutations and, thus, can be inherited.
Your doctor may recommend this panel if you or your family members have been diagnosed with a heart disorder, high cholesterol levels, a history of fainting or passing out, or had unexplained cardiac arrests.
The panel tests for the following conditions:
- Arrhythmia
- Cardiomyopathy
- Aortic Aneurysms / Dissections
- Familial Hypercholesterolemia
- Comprehensive Testing
- Other Lipid Disorders
- Noonan Syndrome / RASopathies
- Other conditions like transthyretin amyloidosis
Neurological Test
Any condition affecting the brain or spinal cord falls under neurological diseases.
While many factors like infections, poor nutrition, and exposure to heavy metals can cause neurological disorders, carrying a genetic change can make you more prone to them right from birth.
The following tests are available in the neurological panel:
- Neuropathy
- Epilepsy
- Neurodevelopment
- Neurocutaneous / NeuroOncology
- Familial Hemiplegic Migraine
Reproductive Health Tests
A baby can be born with a genetic disease caused due to a mutation either by chance or because the parents may be carriers of a particular condition.
With prenatal screenings, it is possible to detect the mutation (if present) in the baby during pregnancy itself.
Ambry Genetics offers two tests in this panel.
Carrier Screening
This is done for the biological parents (potential) and is available even during pregnancy.
It tests for conditions like cystic fibrosis, spinal muscular atrophy, etc.
Non-Invasive Prenatal Testing (NIPT)
NIPT is done by isolating fetal DNA from maternal blood.
It tests for chromosomal conditions like trisomies (13, 18, and 21) and other aneuploidies.
Clinical Genomic Testing
In this panel, Ambry offers two types of tests to detect mutations underlying rare genetic conditions.
- Chromosomal microarray
- Whole exome sequencing
This test is useful if previous genetic tests haven’t yielded useful results or if there’s no specific test available for a given condition.
Ambry Genetics For Providers
Ambry Genetics presents its services for healthcare professionals through a separate portal with login services.
They emphasize their focus on patient-centric testing, supported by rigorous scientific processes and a team of experts, including genetic counselors.
Ambry offers a broad spectrum of genetic tests in areas like oncology, neurology, and cardiology, accompanied by an easy-to-use online ordering system and telemedicine support.
The company also stresses its commitment to gender inclusivity and provides various resources, including clinical materials and educational webinars, to assist healthcare providers in making informed decisions for their patient’s care.
Ambry Genetics: Ordering Process
Ambry Genetics requires you to take the test through a healthcare provider.
You will then need to provide a sample depending on your test type. There are a few ways to submit your DNA sample for genetic testing.
- Your health provider will have a saliva sample collection kit shipped directly to you to provide the sample.
- You may be required to visit a local lab to provide your DNA sample.
- A mobile blood collection kit will be shipped to you to provide the sample.
You can check out the instructions for saliva sample collection here.
Once you collect your sample and send it to Ambry, the lab will run the genetic tests and provide the results to your healthcare provider, who can access it via their login.
What Is The Science Behind The Test?
Ambry uses Clinical Diagnostic sequencing as a discovery tool. It helps improve patient diagnosis and also enables affordable large-scale genetic testing.
Ambry uses quality lab processes, confirmatory testing, and advanced technology to ensure that the results are as informative and accurate as possible.
The team of scientists uses peer-reviewed publications to compile supplementary information for the genetic testing reports.
Overview of the Genetic Test Results
The genetic testing reports may differ from one test to another, but all reports include the following:
Results
The result table displays the following:
- Gene(s) analyzed
- Inheritance mode of the condition
- Mutation/alteration (if present)
- Homozygous or heterozygous state
Interpretation
The interpretation provides a detailed explanation of the results, discussing risk factors and diagnosis. It also includes information on the genes and their variants.
Summary
The summary tells you if you have tested positive or negative for the mutation(s) associated with the condition(s) tested.
Assay information
This section outlines the genetic testing procedure and provides information on the processing of your DNA sample.
Reports also contain supplemental information with report references. Additionally, it includes an interspecies comparison with a detailed description of the variations.
The reports are tailor-made for use by genetic counselors and healthcare providers, including information vital for patient medical care.
Ambry Genetics Pricing
If you have insurance coverage, the test can cost you anywhere from $0 – $100. According to the website, 4 out of 5 patients pay $0 for their tests.
However, if your insurance does not cover genetic testing, the test can cost $249.
The actual cost will ultimately depend on the type of test required.
Before allowing your healthcare provider to order a kit for you, it is essential to check the details of your health insurance plan.
Your health provider will then fill out an insurance pre-verification form to help Ambry estimate the out-of-pocket cost of your genetic testing.
The company provides free genetic testing to patients of select genetic diseases in collaboration with pharmaceutical partners.
About Privacy
Ambry Genetics claims to be committed to protecting user privacy. However, to access its services, you will have to accept the terms of its privacy policy.
Ambry’s privacy policy may change from time to time, with updates posted to the website.
Ambry keeps track of user activity and maintains visitor logs to put together anonymous aggregate statistics.
Ambry may collect, store, and use personal information when voluntarily submitted during registration. The company will use this information to contact its users and improve its services.
By accepting Ambry’s privacy terms, you give the company consent to share your information with third-party individuals like genetic counselors, healthcare providers, etc.
What People Say- News & Reviews
News
- Konica Minolta Inc. acquired Ambry Genetics in a deal worth up to $1 billion in 2017.
- Ambry Genetics ranks among the top players in the US Genetic Testing Market Research Report in 2021.
- Ambry was named Best Company and recognized with five awards by Comparably.
- Ambry Genetics defeated the appeal by competitor Myriad Genetics to restrict genetic testing for ovarian and breast cancer in 2014.
Reviews
Ambry Genetics Review on Facebook (5/5 – based on 31 reviews)
Ambry Genetics on Google Reviews (3.7/5 – based on 15 reviews)
Summary: Pros, Cons & Verdict
Pros
- Testing uses state of the art technology
- Results are reliable due to review by a healthcare provider
- Cost-effective as services may have health insurance coverage
- Reports are accurate and precise
- Provides free counseling for cancer patients
Cons
- Not a direct-to-consumer company
- Access to raw data is unavailable
- Requires users to contact a healthcare provider first
- Does not accept data from other genetic testing providers like AncestryDNA and 23andMe
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*screenshots taken from the Ambry Genetics website
