Genetic Carrier Screening

Chronic Care Management

What we can learn from our genetic make up is increasing with the continued advancements in Gene Mapping. At AMS we are privileged to offer Genetic Carrier Screening for your office. Our laboratory offers comprehensive testing for 62 different genotypes. The purpose of this test is to reduce births with hereditary disease and empower families to make proactive choices in regard to family planning.

Disease states tested for include Canavan, Bloom, Cystic Fibrosis, Fanconi Anemai, Galactosemia, Hearing Loss, Beta Thalassemia, Tay Sachs, Sickle Cell anemia and more. These are present in varying risks between different populations including those of Jewish, Asian and European descent.

Limitations occur from taking a condition oriented approach to screening as we become an increasingly multi ethnic society. Many of the genetic conditions are no longer purely present in certain communities.

Estimates indicate that 80% of children born with an inherited disease are born to families with no known previous history. Currently only 7% of doctors are talking to their patients about carrier screening and even less pre conception. This means a high number of potential at risk pregnancies could be avoided with more routine screening,

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Offering carrier testing to your patients before pregnancy enables the parents to adequately assess risks and plan accordingly – saving pain, heartache and healthcare costs. This gives you the physician, the ability to be proactive in patient care for your patients family planning.

Genetic diseases currently account for up to 40% of cases being treated in pediatric hospitals and practices. The costs of treatment of diseases such as Cystic Fibrosis are significant with a CF patient costing between $50,000 to $75,000 per year. The cost of testing and potential prevention make this screening worthwhile.

The opportunity now exists for you to use the latest genetic sequencing technology to screen for and potentially prevent over 60 inherited diseases in your practice. These include Tay-Sachs and Beta Thalassemia which has been reduced by over 90% in targeted communities with carrier screening.

This test has high patient acceptance with the use of a mouthwash which the patient can discretely perform the test in a bathroom without the need for producing sputum or blood. The test takes less than a minute to perform and is completely non invasive.

Why Choose Our Carrier Screening?

  • Other tests available often require a blood draw or a sputum sample. This methodology can be uncomfortable or embarrassing for the patient. Our test enables the use of a mouthwash and the patient can comfortably do the test privately.
  • Many other carrier testing screen a lot less than 62 genes. Moving to more comprehensive screening is a simple switch if you currently offer carrier screening or a simple add on if you do not. Results are available within 9 business days with fax and/or portal result access. Carrier screening has the potential to majorly impact families lives through better pregnancy planning. Be proactive in caring for your families.
  • Our lab is a full service lab and can also provide all blood work, toxicology and genetic testing for your office if required.

How Does It Work?

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Essentially any person considering having children at any point in the future will qualify, predominantly males and females aged 18 to 45 years of age. The test is widely accepted by most insurances due to the mitigation of huge costs for reduction of babies born with these genetic abnormalities.

Offering the test is made easy with the use of screening forms that identify patients that can benefit from the testing. The test is performed as a alcohol based mouthwash. The alcohol helps to act as a preservative for the DNA as well as aids in collecting a good sample.

The sample is then sent to the lab with results available within 9 days. Doctors are available for advice on discussing results with your patients if required.

How Do I Get Started?

If you believe your patients could benefit by knowing in advance of potential birth defects our test currently screens for the most genetic anomalies with 62 genes. Jewish populations are at particular risk.

Getting started is simple with a single form required to be signed. Any additional providers can be enrolled at the same time with their name and NPI. Once the laboratory receives the forms, supplies will be sent to your office and you can commence testing.

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1) Complete paperwork

2) Receive supplies

3) Identify at preconception patients

4) Test patients

5) Review results with patient

In Summary

Our increasingly multi ethnicity society is creating the increased need for hereditary screening to prevent a large number of genetic diseases. Our test carries mapping for 62 genes, more than most other screening providers. The test is widely accepted by the patient for its quick and discrete sample collection. Physicians also receive support when discussing outcomes with patients. Genetic screening is the medicine of the future and will help you to ease patients worries and potential heartache.