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Genetic test for families concerned about inherited spinal muscular atrophy and muscle weakness

Genetic Test for Muscle Weakness and Movement Problems

Spinal Muscular Atrophy (SMA), Diagnostic

Google
3,138 reviews
  • Identifies genetic cause of muscle weakness.
  • Checks for SMA-related gene mutation.
  • Confirms diagnosis of spinal muscle issues.
First results as soon as overnight*

90 day happiness guarantee

We stand behind our service

Prescription & fees included

Go directly to the lab, no extra fees

Easy to understand results

With friendly doctor's notes & guidance

Fast & convenient

Lab visit as quick as 10 mins in & out

90 day happiness guarantee

We stand behind our service

Prescription & fees included

Go directly to the lab, no extra fees

Easy to understand results

With friendly doctor's notes & guidance

Fast & convenient

Lab visit as quick as 10 mins in & out

What's this test for?

This test is essential if you or your child are experiencing unexplained muscle weakness, difficulty walking, frequent falls, or delayed motor skill development. It identifies specific genetic mutations in the SMN1 gene that cause Spinal Muscular Atrophy (SMA), a hereditary condition affecting muscle strength and movement. This test is especially important for families with a history of SMA, parents who are carriers, or when doctors suspect a genetic cause behind progressive muscle weakness.

What's included in this test?

This diagnostic test analyzes the SMN1 gene to detect deletions or mutations that cause Spinal Muscular Atrophy. The test identifies whether you have the genetic changes responsible for SMA and can help determine the specific type and severity. This genetic information is crucial for confirming a diagnosis, understanding prognosis, guiding treatment decisions, and assessing carrier status for family planning purposes.

What happens after I get my results?

You'll receive detailed doctor notes in simple language explaining what the genetic findings mean for you or your family member's diagnosis and health outlook. These notes include personalized guidance on next steps, such as connecting with genetic counselors, neurologists specializing in neuromuscular disorders, or discussing treatment options and family planning considerations. You'll also get the standard lab report, and our system allows you to securely store and share these important genetic findings with your healthcare team.

Who should consider getting this test?
This test is important for infants or children showing signs of muscle weakness, poor muscle tone (floppiness), or delayed motor milestones like sitting or walking. It's also recommended for adults experiencing progressive muscle weakness or atrophy, individuals with a family history of SMA, and prospective parents who may be carriers. Genetic counselors often recommend this test when SMA is suspected based on clinical symptoms or family background.
What symptoms indicate I may need this test?
Common symptoms that may indicate SMA include progressive muscle weakness, trouble standing or walking, frequent falls, difficulty swallowing or breathing, trembling hands, and poor muscle tone in infants. Children may show delayed motor development, inability to sit without support, or difficulty lifting their head. The severity and age of onset vary depending on the type of SMA, ranging from infancy to adulthood.
What is Spinal Muscular Atrophy and why does it matter?
Spinal Muscular Atrophy (SMA) is an inherited genetic condition that affects the motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. It's caused by mutations in the SMN1 gene, which produces a protein essential for motor neuron survival. SMA matters because early diagnosis allows for timely treatment with new therapies that can significantly improve outcomes, and genetic testing helps families make informed decisions about family planning and medical management.
How is SMA inherited and what does this mean for my family?
SMA is inherited in an autosomal recessive pattern, meaning both parents must carry a mutated SMN1 gene for a child to develop the condition. If both parents are carriers, there's a 25% chance with each pregnancy that the child will have SMA, a 50% chance the child will be a carrier, and a 25% chance the child will not be affected. Genetic counseling can help families understand their specific risks and options.
What happens if my test confirms SMA?
If the test confirms SMA, your doctor will work with you to create a comprehensive care plan tailored to the specific type and severity. Treatment options now include gene therapy and medications that can slow disease progression and improve quality of life, especially when started early. You'll likely be referred to a neuromuscular specialist and may benefit from physical therapy, occupational therapy, and respiratory support as needed. Genetic counseling for family members is also recommended.
Can SMA be treated or managed?
Yes, significant advances in SMA treatment have emerged in recent years. FDA-approved therapies like gene therapy and medications can help preserve motor function and improve outcomes, particularly when started early. Supportive care including physical therapy, respiratory support, and assistive devices can greatly enhance quality of life. While SMA cannot be cured, early diagnosis through genetic testing enables timely intervention that can make a meaningful difference in disease progression.
How accurate is genetic testing for SMA?
Genetic testing for SMA is highly accurate, with over 95% sensitivity for detecting SMN1 gene deletions that cause the condition. The test identifies the most common genetic mutations responsible for SMA and can also determine carrier status. However, in rare cases, some mutations may not be detected, so clinical correlation with symptoms and family history remains important. Your healthcare provider can discuss the test's limitations and what the results mean for your specific situation.
How’s this work?
Getting your blood test with us is easy, private & backed by the power of science.

Long story short:
  1. In the test options, use the filters or search box to narrow your choices and find the test you want.
  2. If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
  3. Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
  4. If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
  5. When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
  6. Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
  7. You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!
  8. If you have any questions, please text us at 754-799-7833 or email [email protected] and we'll gladly help you.
How do I know which test to get?
In the test options, find the test you want. If you’re not sure which test to get, we can lend a hand in finding the right option.

Just text or call us at 754-799-7833, email us at [email protected], and we'll gladly help you. We've got your back and reply quickly.
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?
Absolutely! We totally understand that errors can happen. No worries, we're here to help you.

Just reach out to us via text at 754-799-7833 or shoot us an email at [email protected]. Remember to include your order number and let us know the correct information you’d like to update. Our awesome team will jump right in and make sure everything is sorted out and accurate for you.

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.
Do you accept health insurance?
Only HSA & FSA is accepted.

Our services are strictly self-pay and cannot be submitted to your health insurance provider except for Health Savings Accounts or Flexible Savings Accounts.

This policy applies to all insurance companies, including federal health insurance programs like Medicare.

If you have any questions, please text us at 754-799-7833 or email [email protected].
Can I cancel my order?
Yes.

We get it – sometimes your needs change.

As long as your samples haven’t been collected yet, we’re happy to help you cancel your order.

If you have any further questions, please text us at 754-799-7833 or email [email protected].

You can read more about our cancellation policy here.
How can I find a lab location near me?
During the ordering process, you’ll be able to select a specific lab near you, with no strings attached! You can switch it up later easily and visit any of our authorized locations as long as it’s the same lab company you selected your test for (Quest Diagnostics or Labcorp).

Before you proceed with your order, feel free to browse through all our lab locations here. This will give you the peace of mind of knowing that there's a lab nearby your home, office or your favorite gym.

If you have any questions, please text us at 754-799-7833 or email [email protected] and we'll gladly help you.

Here’s why 1,000,000+ customers chose us for affordable hassle-free private blood testing.

You get clinical lab reports & simplified health insights.
Save time & gas, go straight to the lab. Our doctors cover the rest.
Results start landing the next day after your lab visit.*
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Instant orders, results often overnight*
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Demo results
SMN1 Gene Deletion Analysis Not Detected
Demo results
Not Detected Detected
Not Detected

What this means

Your test shows no deletions in the SMN1 gene, which is the expected and normal result. This means you do not have the genetic mutations that cause Spinal Muscular Atrophy, though if symptoms persist, your doctor may recommend additional testing or evaluation for other neuromuscular conditions.

* Regular blood test results (e.g., CBC) typically start arriving the next business day after sample collection. More complex tests, such as hormone panels, may take up to 10–15 business days due to their complexity.
Here’s how easy it is to get blood work done on your terms
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Order your test Save a trip to the doctor. Your results will come with clear, friendly explanations. Takes 2 minutes
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Genetic Test for Muscle Weakness and Movement Problems

Google
3,138 reviews
  • Identifies genetic cause of muscle weakness.
  • Checks for SMA-related gene mutation.
  • Confirms diagnosis of spinal muscle issues.

1,000,000+ blood tests later, here's what our customers say

Google reviews 3138 reviews Next
Still got questions? Text our super-cool support team at 754-799-7833 to get help finding your ideal checkup.