Genetic Testing, BRAF, etc. Anyone done it?

B-RAF Screen
My Endo requested it after my metastasis to the lymph nodes, second surgery. I was positive. Forty-three percent of Papillary Thyroid cancer patients have the mutation. Wikipedia has a good definition. It is somewhat recently discovered and not a lot of doctors are familiar with it. There is a clinical drug trial being done that is in the third stage and may be a good prevention of cancer for those of us that have the gene. I have to be constantly monitored for metastasis. My Thyroid nodule was very small and in less than six months I had met's to the Lymph nodes. My Endo did not give me RAI after my Thyroidectomy because of the size of the tumor. He did not know that I was B-RAF positive at that time.

I was born with other mutations as well. I have a Chiari Malformation in my skull and an underdeveloped jaw. Not sure how I acquired it, but my daughter got the Chiari malformation as well. Strange how it's all in the head/neck area. She was diagnosed about two years ago with a rare form of Epilepsy. Although, we look normal. They found my Chiari malformation by accident when I had an MRI to see if I had Multiple Sclerosis because I was exhibiting symptoms. My mom has Multiple Sclerosis and had it when she was pregnant with me. She and her family were exposed to TCE (Trichlorethylene)in Tucson after Hughes Aircraft, now known as Raytheon, dumped chemicals in the desert near where they lived and exposed our ground water back in the 1950's. Many of my family members have died of different forms of cancer. My grandmother actually had cancer that started in her eye ball, very rare. Nobody really knows the complete effects of what it has done to all that were exposed. I believe that the environment plays a large role in mutations and changing our genetic make up. I thought that someone at the University of Arizona Medical Center and Cancer Center (where I am a patient) would be curious about my case but I haven't met anyone that wants to explore it in more depth. If I had the money I would go back to medical school to study genetics and oncology. I am in nursing and I see so much in my field. Just wish I had more time to ask patient's questions. I feel like it's my calling to some day come up with answers to some very tough questions.

Blessings,
Julie-SunnAZ

nasher said:

was told it was done
I was told they tested for BRAF but I did not see it in my medical report.

can anyone who knows for sure they have had it done tell me what i should be looking for in my record to make sure it’s been tested for... or if it has not been tested to be able to determine that so I can ask for that because that would defiantly change the way the VA looks at my record when they determine my fitness and disabilities (ranked with all the other disabilities I have).

Craig

Procedure Code for Mutation B-RAF
The procedure code is #83914 and it say Mutation Ident OLA/SBCE/ASPE. At least this is what it says on my bill. Anyone in the billing department should be able to tell if the test was done by the code.

Hope this helps.
Blessings,
Julie-SunnyAZ

teamwink said:

$$$
I asked why this is not done or even an option and the doc said because it is super expensive and insurance doesn't cover it. I wish it had at least been mentioned as an option to me, so that I could make that choice, but it was not. I'm not certain if it is this way everywhere, but that's what I found out here.

$$$ humm
ok did some more reserch

https://www.bcm.edu/geneticlabs/test_detail.cfm?testcode=9000

highlights from this page

Test Includes: Sequence Analysis of codon 600 and 464-469 of the BRAF gene.

Special Notes: This test can also be performed on Fresh Frozen Tissue (#9001).

Turn Around Time: 10 days

List Price: $748.00 *Institutional discounts may apply, please call.

to me this dose not sound super expensive.

----
to be honest if they tell me the test is not covered i will pay the $748 + shipping if nessary out of pocket to get this test done and there is probably other sites that will test for it

alapah said:

in process of getting BRAF testing done
I have growing lung nodules and just had a surgical lung biopsy to ensure what is there is in fact thyca - it did not light up on a recent WBS with RAI tracer dose so we needed to be 100% sure. They are supposed to run the BRAF gene mutation test to help the oncologists determine which of the kinase inhibitor chemo drugs might work best for me. Will be interesting to see the results. Based on no real understanding of the science, I suspect I am BRAF positive - I also had melanoma in situ around the same time I was diagnosed with thyca. Melanoma is also a BRAF related cancer.

frozen section 5 years
From what I have been told they keep frozen section for 5 years (at least)

it has taking me visits to 2 hospitals and calling over 5 labs to figure where the frozen section was but I found it. Now I have to wait for Aug 2nd to see a doctor I have never met so I can ask for the lab test to be run. (have been told it’s not going to be a problem it’s just how these things work)

They actually found 2 separate frozen sections one in Bremerton Wa and the other in Washington DC. love being a case study of an interesting case of thyroid carcinoma. I have been told that my thyroid has been sent to over 15 hospitals for study. So there are probably frozen sections at a few more locations.

so hopefully mid August I will know if its B-RAF positive or negative


Craig