All Genetic Disorder Tests

Genetic Disorder Lab Tests and health information

Do you have concerns about a genetic disorder? 

We provide genetic and laboratory testing to determine if you have a hereditary issue, assist in illness diagnosis, and monitor therapeutic drugs and cancer prevention. 

We can assist you in obtaining answers to your questions. Our lab testing is intended for people concerned about inheriting a disease. We provide lab testing to see whether you have an inherited condition, help with sickness diagnosis, and track treatment medications and cancer prevention. Our test findings are simple to comprehend and can assist you in making healthcare decisions. 

If your family has a known genetic mutation, our lab testing will reveal whether or not you have it as well. People with specific diseases, such as cystic fibrosis (CF) or sickle cell disease (SCD), who would otherwise be unaware of their risk status, can start treatment before symptoms appear, potentially saving their lives. In some circumstances, knowing one's carrier status enables people who are in danger of passing on a serious disease to take efforts now, such as prenatal diagnosis or prenatal testing, to prevent having children with the disease in the future. And knowing one's carrier status may sometimes make people feel safer when making crucial life decisions like establishing a family by giving them a piece of mind about what lies ahead for themselves and their offspring down the line. In light of this, we believe that our services can empower people affected by inherited diseases. 

You won't find another company that provides high-quality services at such a low cost. We can provide information about your health through our lab tests, allowing you to take control of your life. It's essential to understand what's going on within your body so you can make an informed decision about how to manage it better - let us assist you!

To get the right test for you, choose from the selections below.

For more information on What Are Genetic Tests for In Targeted Cancer Therapy?, click here.


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Genetic testing for targeted cancer therapy is all about pinpointing mutations in the DNA and getting a read on what is going on in the body beyond traditional scans. It takes a look at a person's genetic coding to ensure they receive appropriate treatment for what their body needs. This is key when it comes to avoiding using dangerous drugs or are not going to respond well to the patient's tumor.

Cancer tends to grow at an uncontrolled rate due to the presence of abnormal cells. This can happen for many reasons, including the proteins not binding as they are supposed to, which can cause the cell generation to spiral out of control. Having information on the mutations at the cellular level makes it easier to pinpoint where the issues lie, target specific proteins based on a patient's genetic code, and develop a plan that will only target cancerous cells.

A lot of research has gone into understanding the role genes play in cancer. The information has continually been refined to understand cancer and then used to create personalized treatment plans (targeted cancer therapy). The drugs used will be chosen based explicitly on what a patient requires at that moment. Researchers have analyzed the research data to see patterns for what works and what doesn't across thousands of patients.

The findings have made it a lot easier to have a more predictable approach to handling cancer.

Cancer drugs that target particular proteins can then be used for genetically more receptive patients to that type of treatment.

Genetic tests also take the time to spot mutations in the tissue. This allows specialists to see which therapy will have the best results.

Researchers continue to analyze a person's genes to make sure they are developing suitable treatment options and can continue to fine-tune their approach to handling cancer heading into the future. This is what targeted cancer therapy is all about.

FAQs

1. Why is Testing Essential?

It's essential to focus on the underlying details of any type of cancer treatment such as:

  • Chemotherapy
  • Radiation therapy
  • Surgery
  • Any combination of the above therapies

These can only be found using genetic tests. The goal is to use the right drugs for chemotherapy to target specific parts of the body that will get rid of the cancerous cells. With radiation therapy, the goal is to kill the cells doing the damage and make sure they don't grow. Both therapies work well and are essential in treating cancer. The appropriate adjusting of these treatments is what customizes it for the patient's needs.

The premise behind targeted therapy is to fight cancer using a different cancer treatment. This is a unique way to use a drug that will have a more pronounced effect on the cancerous tissue. The goal is to have similar results while cutting down on the side effects of regular therapy. This is due to understanding a person's genetic code to fine-tune what is happening with the cancerous cells, which is the best way to differentiate between the cells, only to pinpoint the bad ones. Targeted therapy is all about going through a set of steps to "target" the bad cancer cells. Taking the time to target those cells makes it easier for the patient to go through the therapy while knowing the results will be stronger. 

The drugs that come along with this type of therapy can cost a lot, and they will only work after there has been genetic testing done on the patient to see what needs to happen for maximum results. This information will only come along with the tests that will be run at the start of the therapy.

There are several types of cancer drugs that are sold on the open market, including:

  • Drugs that target the receptors of the cell to block growth signaling
  • Drugs that cross the cell membrane and stop growth at the receptor's active site

2. How Does Genetic Testing Help with Targeted Cancer Therapy?

Genetic tests are essential for pinpointing what type of cancer a patient is dealing with and how to treat it using the right drugs. Without this information, it is tough for a doctor to develop the right set of cancer drugs to create potent results.

Genetic coding is essential for understanding what the body is made of and how it responds to specific proteins. There are also genetic alternations to consider, which are also known as mutations. These happen across the world in all types of people. These mutations can get passed down over time, and it is important to be aware of them before starting a targeted treatment plan. The wrong cancer treatment can lead to unwanted side effects when it comes to mutations. They can even trigger these mutations in the human body. 

With so many cancers to think about, it's important to remain on top of these mutations, including knowing which protein is bonded to the tumor present in the body. Knowing this information goes a long way in coming up with a successful treatment plan for the patient. Specific mutations grow rapidly, and it's crucial to take action right away with targeted therapy. It is these changes to the protein that can make it difficult for patients to stay healthy.

Genetic tests do a good job spotting specific tumors and understanding them at a cellular level. This is a great starting point for the targeted therapy to be carried out as intended.  

3. When Do the Tests Get Ordered?

These tests tend to start right away when it is decided targeted therapy is the way forward to fight cancer. It is part of the screening test that will be done to see what is happening inside the patient's body and how the cancer is growing. 

The A specialist will take the opportunity to acquire a sample of the tumor's tissue and then run it through genetic testing. There are times when the tests will be rerun if the tumor continues to grow and the therapy has to be adjusted again.

4. What Do These Tests Look Like?

The general idea behind a test such as this is to look at the genes in the human body for cancer treatments. The focus is to pinpoint those mutations causing cancer to become a reality in the patient's life.

Here are a few examples of what the test is going to take a look at:

  • Chronic myelogenous leukemia - test for ABLI (non-responsive to imatinib with mutation)
  • Breast cancer - test for Her2/neu (responds Well to trastuzumab)
  • Chronic myelogenous leukemia (CML) - test for BCL-ABL - (can be measured while treated with targeted drug)
  • A gastrointestinal stromal tumor (GIST) - test for KIT (assesses the mutation and responds well to imatinib therapy with an increased dose)
  • Colon cancer - test for KRAS (will be resistant to tyrosine kinase inhibitor)
  • Melanoma - test for BRAF (responds well to vemurafenib to treat metastatic melanoma)
  • A gastrointestinal stromal tumor (GIST) - test for PDGFRA (will not respond well to imatinib with nutation present)
  • Non-small lung cancer (NSCLC) - test for EML4-ALK (if ALK is spotted, it can respond well to ALK kinase inhibitors, including crizotinib)
  • Myeloproliferative neoplasms (MPNs) - test for JAK2 (if a mutation is present, it can be treated using ruxolitinib)
  • Non-small lung cancer (NSCLC) - test for ROS1 (if ROS1 is seen, use ALK kinase inhibitors including crizotinib)
  • Non-small lung cancer (NSCLC) - test for EGFR (ideal for tyrosine kinase inhibitors including gefitinib or erlotinib)
  • Non-small lung cancer (NSCLC) - test for KRAS (can be resistant to tyrosine kinase inhibitors and vinorelbine therapy)
  • Non-small lung cancer (NSCLC) - test for PDL1 (will likely respond to immunotherapy)

When it comes to using cancer drugs, specialists need to look at the patient's genetic coding and then compare it to the list of treatment options.

In comparison, regular therapy would go for a broad-spectrum approach, which can be riskier as there are situations where the body is not going to respond well to specific drugs, as seen in the list above. By having targeted cancer therapy, it's possible to get past these hurdles with a quick look at a person's genetic coding. The tests are FDA-approved and safe for those who want to ensure they are safe during the treatment process.   

The goal is to make things simple for the doctor, and that is possible with these tests.

Cancers are noted for being linked to genetics. It is important to have a good read on them before starting any type of cancer treatment, including potential characteristics associated with mutations in a person's body. A good example of this would be GIST, as it will not be the same in children as it is in adults.

In the testing phase, most of the testing is going to be done with common mutations. It is important to rule out the primary mutations to get a better read on how the treatment will be handled. A specialist will analyze the information and test the sample to ensure the right treatment plan is put together.

Genetic tests can be run on specific gene mutations based on the type of cancer a patient is dealing with. This will be at the discretion of the specialist and what they are looking for before designing the treatment plan.

Examples of this can include KIT and NRAS (Melanoma) or PIK3CA and NRAS (Colon Cancer).