What's this test for?

This test is ideal if you or your child have symptoms suggestive of Rett syndrome—such as loss of purposeful hand skills, slowed head growth, or developmental regression—but a prior genetic sequencing test came back negative. It looks for larger structural changes (deletions or duplications) in the MECP2 gene that a standard sequencing test can miss. It's also used to help diagnose MECP2 duplication syndrome, a related condition that mainly affects boys and causes developmental delays, low muscle tone, and recurrent infections.

What's included in this test?

This test uses a specialized technique to look for missing or extra copies of the MECP2 gene, changes that are too large to be picked up by standard gene sequencing. Finding these structural changes matters because they can confirm a Rett syndrome diagnosis that a negative sequencing result didn't explain, or identify MECP2 duplication syndrome, which needs different management and family counseling considerations.

What happens after I get my results?

Your results will be available in your account, with an explanation of what a positive or negative finding means for the MECP2 gene. If a deletion or duplication is found, the report will explain what that means and suggest genetic counseling as a practical next step to understand inheritance patterns and family planning options. Since this is a one-time genetic test rather than a fluctuating biomarker, there's typically no need for retesting, but you can keep the report saved and accessible in your account for future reference or specialist visits. A downloadable lab report is always available from your account for your records.

Who should consider this test?

This test is best for individuals with clinical signs of Rett syndrome who already had a negative MECP2 sequencing test, since sequencing alone can miss larger gene rearrangements. It's also appropriate for boys showing developmental delays, weak muscle tone, and frequent infections that suggest MECP2 duplication syndrome. Family members of someone with a confirmed MECP2 change may also consider this test to understand their own genetic status.

When will I get my results?

Results are typically ready within about 7 days of your sample being processed at the lab. Because this is a specialized genetic test, it takes a bit longer than routine bloodwork, so plan for about a week's turnaround. You'll get a notification as soon as your results are posted to your secure account.

What symptoms indicate I may need this test?

Signs to watch for include loss of previously learned hand skills, repetitive hand movements like wringing or clapping, slowed head growth, and loss of speech or social engagement after a period of normal development. In boys, symptoms like developmental delay, low muscle tone, and recurrent infections can point toward MECP2 duplication syndrome. If these symptoms are present alongside a negative standard genetic sequencing result, this rearrangement test is the logical next step.

What is MECP2 and why does it matter?

MECP2 is a gene that provides instructions for a protein needed for normal brain development and function. When this gene is missing pieces (deletion) or has extra copies (duplication), it disrupts brain development, leading to conditions like Rett syndrome or MECP2 duplication syndrome. Understanding the exact type of genetic change helps clarify the diagnosis and what to expect going forward.

What does a positive result mean?

A positive result means a deletion or duplication was found in the MECP2 gene, which can confirm a Rett syndrome or MECP2 duplication syndrome diagnosis. This information is valuable for understanding the underlying cause of symptoms and can guide conversations about supportive therapies, developmental services, and genetic counseling for the family. It does not change day-to-day symptoms but can help explain why they're happening.

What does a negative result mean?

A negative result means no deletion or duplication was detected in the MECP2 gene, which makes Rett syndrome or MECP2 duplication syndrome caused by this type of change less likely. If symptoms strongly suggest one of these conditions despite a negative result, further genetic testing looking at other genes may be a helpful next step. Keep track of any evolving symptoms and revisit testing options as needed.

What should I do if my results are abnormal?

If your results show a deletion or duplication, consider connecting with a genetic counselor to fully understand the finding and what it means for family planning and relatives. Keep your downloadable report handy for reference, and look into local or online support groups for Rett syndrome or MECP2 duplication syndrome, as they can offer practical guidance for daily care. Tracking developmental milestones over time can also help identify what additional support might help.

Getting your blood test with us is easy, private & backed by the power of science.Long story short: In the test options, use the filters or search box to narrow your choices and find the test you want. 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. 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. 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. 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. 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. You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy! If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com 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 support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

When will my lab results be available?

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. After your blood draw, just hang tight and don't worry – we'll keep you updated and in the loop! If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com, and we'll gladly help you.

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 support@privatemdlabs.com. 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 support@privatemdlabs.com.

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 support@privatemdlabs.com. 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 support@privatemdlabs.com and we'll gladly help you.

Rett Syndrome MECP2 Test - Deletion & Duplication Check

Getting your blood test with us is easy, private & backed by the power of science.

Long story short:

In the test options, use the filters or search box to narrow your choices and find the test you want.
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.
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.
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.
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.
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.
You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!

754-799-7833

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