tk2d

Mitochondrial Disease Symptoms

Can include muscle weakness in various body parts, respiratory challenges, drooping eyelids, and progressive weakening of external eye muscles.

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In advanced stages, it can lead to loss of independent movement, eating, and breathing. Symptoms can arise from a shortfall in the thymidine kinase 2 enzyme, essential for mitochondrial DNA maintenance, and is caused by mutations in the TK2 gene.

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If you're experiencing any of the following symptoms, our simple, non-invasive genetic test may provide clarity.

Renal Tubulopathy

Kidney dysfunction that often goes unnoticed

Bilateral Optic Atrophy

A serious eye condition leading to vision loss

Facial Diplegia

A paralysis that affects facial muscles, altering expressions and speech

Ophthalmoparesis

Limited eye movement, impacting daily life

Intestinal Dysmotility

Disruption in the digestive system causing discomfort and nutritional issues

Proximal Myopathy

Muscle weakness, particularly in the upper limbs and torso

Bulbar Weakness

Difficulty in speaking and swallowing

Ragged Red Fibers

A microscopic sign indicating muscle tissue disease

Mitochondrial Myopathy

Muscle weakness due to cellular energy deficiencies

Chronic Progressive External Ophthalmoplegia

Gradual weakening of the eye muscles, leading to drooping eyelids and other complications

Loss of Motor Skills

Difficulty in coordination and movement

Recurrent Pneumonia

Frequent lung infections, a sign of underlying issues

Delayed Growth

Slower physical development in children

Muscle Tissue Disease

Generalized weakness affecting daily activities

Sunken Cheeks

A visible sign of facial muscle involvement

Difficulty Eating

Challenges in chewing and swallowing food

What people are saying

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

We have been searching for answers for over a decade and I'd almost given up.

I'm so grateful that Probably Genetic has taken it upon themselves to make

this kind of potentially life-altering testing accessible to families like mine.

PanPan

How it works?

1. See if you are eligible

Complete a profile to determine your eligibility and pre-order your test.
If you are eligible, a test kit is shipped to your home.

2. Collect and Send

Receive the test kit, provide a saliva sample, and return the test kit using the prepaid box.
The lab sequences your sample and an analysis team identifies disease causing variants.

3. Receive your results

In 8 weeks, review your clinical genetic report and discuss your results during a complimentary genetic counseling session.

Free Genetic Testing For Mitochondrial Disease

Mitochondrial Disease Symptoms

Renal Tubulopathy

Bilateral Optic Atrophy

Facial Diplegia

Ophthalmoparesis

Intestinal Dysmotility

Proximal Myopathy

Bulbar Weakness

Ragged Red Fibers

Mitochondrial Myopathy

Chronic Progressive External Ophthalmoplegia

Loss of Motor Skills

Recurrent Pneumonia

Delayed Growth

Muscle Tissue Disease

Sunken Cheeks

Difficulty Eating

What's the next step?

Eligibility.

What people are saying

How it works?

1. See if you are eligible

2. Collect and Send

3. Receive your results

Take a Positive Step Forward