Question 1

What is ataxia telangiectasia?

Accepted Answer

Ataxia telangiectasia is a rare genetic disorder that affects the nervous system, immune system, and increases cancer risk. It is caused by mutations in the ATM gene that disrupt DNA repair and cell division control. The Alpha-Fetoprotein (AFP) Serum Tumor Marker test is the most important blood test for monitoring ataxia telangiectasia because elevated AFP levels are characteristic of this condition.

Question 2

What causes ataxia telangiectasia?

Accepted Answer

Ataxia telangiectasia is caused by mutations in the ATM gene, which provides instructions for making a protein that helps control cell division and repair damaged DNA. When this gene is mutated, cells cannot properly respond to DNA damage, leading to progressive problems with movement coordination, immune function, and increased susceptibility to cancer. Children inherit this autosomal recessive condition when they receive one mutated ATM gene from each parent.

Question 3

What is the best test for ataxia telangiectasia?

Accepted Answer

The Alpha-Fetoprotein (AFP) Serum Tumor Marker test is the most important blood test for ataxia telangiectasia because AFP levels are characteristically elevated in over 95% of individuals with this condition. This test helps healthcare providers monitor disease progression and assess complications affecting multiple organ systems. While genetic testing of the ATM gene confirms the diagnosis, AFP testing provides ongoing surveillance of how the condition affects the body over time and helps guide treatment decisions.

Question 4

When should I get tested for ataxia telangiectasia?

Accepted Answer

You should get tested if your child shows early signs of poor balance and coordination problems, typically appearing when they begin walking between ages 1 and 4. Testing is also important if you notice delayed speech development, unusual eye movements, spider-like blood vessels on the skin or eyes, or frequent infections suggesting immune system problems. If ataxia telangiectasia runs in your family or if genetic carrier testing revealed you and your partner both carry ATM gene mutations, early testing helps establish baseline monitoring and start proactive care management.

Question 5

What are the symptoms of ataxia telangiectasia?

Accepted Answer

The hallmark symptoms include progressive difficulty with balance and coordinated movement (ataxia), typically beginning in early childhood when learning to walk. You might notice slurred speech, involuntary eye movements, and distinctive spider-like red blood vessels (telangiectasias) appearing on the skin and whites of the eyes by age 5-8. Children often experience frequent respiratory infections due to immune system problems, delayed growth and development, and premature graying of hair. As the condition progresses, muscle weakness, difficulty swallowing, and cognitive challenges may develop.

Question 6

Who is at risk for ataxia telangiectasia?

Accepted Answer

Children are at risk when both parents carry a mutation in the ATM gene, even if the parents show no symptoms themselves. This autosomal recessive pattern means each child of two carrier parents has a 25% chance of developing the condition. Ataxia telangiectasia affects all ethnic groups equally, occurring in approximately 1 in 40,000 to 100,000 births worldwide. Families with a history of the condition or known ATM gene mutations have higher risk, and genetic counseling can help determine carrier status before or during pregnancy.

Question 7

What happens if ataxia telangiectasia is left unmonitored?

Accepted Answer

Without proper monitoring, individuals with ataxia telangiectasia face significantly increased cancer risk, particularly leukemia and lymphoma, which develop in approximately 25-30% of affected individuals. The progressive neurological decline continues unchecked, leading to severe disability and loss of mobility by adolescence. Immune system dysfunction worsens over time, making respiratory infections more frequent and severe, often leading to chronic lung disease. Regular blood work and medical surveillance help detect complications early, allowing for timely interventions that can improve quality of life and potentially extend survival.

Question 8

Can ataxia telangiectasia be diagnosed with a blood test?

Accepted Answer

Blood tests cannot diagnose ataxia telangiectasia by themselves, but they provide crucial supporting evidence and monitoring tools. The AFP blood test shows characteristically elevated levels in over 95% of cases, while immune function blood tests often reveal low immunoglobulin levels and decreased lymphocyte counts. Definitive diagnosis requires genetic testing to identify ATM gene mutations, typically performed on a blood sample sent to a specialized laboratory. Once diagnosed, regular blood work helps track disease progression and detect complications like immune deficiency or early signs of cancer development.

Question 9

How is ataxia telangiectasia treated?

Accepted Answer

Treatment focuses on managing symptoms and preventing complications since no cure currently exists for this genetic condition. Physical therapy and occupational therapy help maintain mobility and independence as long as possible, while speech therapy addresses communication difficulties. Immunoglobulin replacement therapy supports immune function and reduces infection frequency, and antibiotics treat respiratory infections promptly. Regular cancer surveillance through blood tests and imaging helps detect malignancies early when treatment is most effective. A multidisciplinary care team coordinates supportive therapies to maximize quality of life throughout the disease course.

Question 10

How can I prevent complications of ataxia telangiectasia?

Accepted Answer

Regular medical monitoring with blood tests and physical examinations helps catch complications early before they become severe. Avoiding radiation exposure is critical because individuals with ataxia telangiectasia are extremely sensitive to radiation, including X-rays and CT scans, which can trigger cancer development. Maintaining good respiratory hygiene, staying current with vaccinations (except live vaccines), and promptly treating infections prevents lung damage from repeated respiratory illnesses. A healthy diet, physical activity within ability levels, and protective measures against falls help maintain overall health and reduce injury risk as coordination problems progress.

Question 11

What can I do at home for ataxia telangiectasia?

Accepted Answer

Creating a safe home environment prevents injuries from falls by removing tripping hazards, installing grab bars in bathrooms, and using non-slip mats. Adaptive equipment like specialized utensils, weighted cups, and mobility aids help maintain independence with daily activities despite coordination problems. Encouraging gentle exercise and stretching within comfortable limits helps preserve muscle strength and flexibility. Using a humidifier and performing chest physiotherapy techniques taught by respiratory therapists helps clear lung secretions and reduce infection risk. Maintaining a consistent schedule for medications, therapy exercises, and regular blood work monitoring supports comprehensive disease management at home.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Ataxia Telangiectasia Blood Test

What is Ataxia telangiectasia?

What causes ataxia telangiectasia?

What is the best test for ataxia telangiectasia?

When should I get tested for ataxia telangiectasia?

References

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