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Genetic testing is the most direct path to diagnosing TK2d
Diagnosing TK2d has often been a long and difficult journey. If a doctor suspects TK2d, they may do a variety of tests, including blood tests and muscle biopsies. Because genetic testing is the most accurate type of test, it may help reduce the amount of time it takes for a patient to get diagnosed.
Genetic testing is the most direct path to diagnosing TK2d
Diagnosing TK2d has often been a long and difficult journey. If a doctor suspects TK2d, they may do a variety of tests, including blood tests and muscle biopsies. Because genetic testing is the most accurate type of test, it may help reduce the amount of time it takes for a patient to get diagnosed.
Why does TK2d take so long to diagnose?
There is so little information available to doctors that they often do not know to look for TK2d, which makes it take longer to get a proper diagnosis.
In fact, patients with mitochondrial disease see an average of 8 different physicians prior to getting a diagnosis.
Another reason why it can take so long is that many disorders and diseases have symptoms similar to TK2d (such as muscular dystrophy, Pompe disease, and others). These similarities mean that many patients with TK2d end up undiagnosed or misdiagnosed with other disorders.
Why does TK2d take so long to diagnose?
There is so little information available to doctors that they often do not know to look for TK2d, which makes it take longer to get a proper diagnosis.
In fact, patients with mitochondrial disease see an average of 8 different physicians prior to getting a diagnosis.
Another reason why it can take so long is that many disorders and diseases have symptoms similar to TK2d (such as muscular dystrophy, Pompe disease, and others). These similarities mean that many patients with TK2d end up undiagnosed or misdiagnosed with other disorders.
For these reasons, genetic testing may be the only way to confirm a diagnosis.
However, other tests are often ordered for patients who show symptoms of TK2d.- Lab tests look for levels of creatine kinase (CK) and lactic acidosis in the blood
- Doctors may also do a muscle biopsy to look for ragged red fibers, check levels of certain enzymes, and measure mitochondrial DNA levels
- Electromyography (EMG) tests may also be performed to look at muscle function
Ultimately, working with a doctor to get a genetic test can confirm a suspected diagnosis of TK2d
You may see a neurologist, neuromuscular specialist, or geneticist. Any of these doctors can diagnose TK2d using genetic testing, which is quickly becoming the new gold standard for diagnosing mitochondrial disease due to its accuracy.
Ultimately, working with a doctor to get a genetic test can confirm a suspected diagnosis of TK2d
You may see a neurologist, neuromuscular specialist, or geneticist. Any of these doctors can diagnose TK2d using genetic testing, which is quickly becoming the new gold standard for diagnosing mitochondrial disease due to its accuracy.
action items
- Talk to your doctors about the different genetic testing options available, such as whole-genome sequencing, whole-exome sequencing, gene panels, and single-gene tests. There are even some no-cost genetic tests to consider
- If you suspect that you may have TK2d, your physician can order this no-cost genetic test: PreventionGenetics TK2d Panel
- If you suspect that you may have a mitochondrial disorder, you can see if you're eligible for this no-cost genetic test by filling out an online symptom checker: UMDF Mito Panel
- To share these tests with your doctor, tell them to visit www.TestForTK2d.com for the latest information. That way, you can discuss these no-cost genetic tests together at your next visit.
action items
- Talk to your doctors about the different genetic testing options available, such as whole-genome sequencing, whole-exome sequencing, gene panels, and single-gene tests. There are even some no-cost genetic tests to consider
- If you suspect that you may have TK2d, your physician can order this no-cost genetic test: Prevention Genetics TK2d Panel
- If you suspect that you may have a mitochondrial disorder, you can see if you're eligible for this no-cost genetic test by filling out an online symptom checker: UMDF Mito Panel
- To share these tests with your doctor, tell them to visit www.TestForTK2d.com so you can discuss these no-cost genetic tests together at your next visit.
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