What's this test for?

This test is ideal if you're exploring the cause of a child's developmental delay, unusual facial features, feeding problems, or sleep disturbances that may point to a genetic condition. It looks specifically for a chromosome 17 deletion linked to Smith-Magenis syndrome, a rare genetic disorder that affects growth, learning, and behavior. It's often used alongside a clinical evaluation when a genetic cause is suspected but not yet confirmed.

What's included in this test?

This test uses a specialized technique called FISH to look for a specific missing piece of genetic material on chromosome 17 that is associated with Smith-Magenis syndrome. It's a targeted test, meaning it checks for this one particular chromosome change rather than screening broadly across the genome. This makes it useful when there's a specific clinical suspicion of this condition based on symptoms or family history.

What happens after I get my results?

Your results will appear in your account along with an explanation of what a positive or negative finding means. If the result is positive, the report will outline what that means for next steps, including further genetic testing to confirm the diagnosis. If it's negative but symptoms persist, additional tests like chromosomal microarray or gene sequencing may be a helpful next step since this test alone cannot rule out the condition. You can download the full lab report from your account anytime and keep it on file for future reference or follow-up testing.

When will I get my results?

Results are typically ready within about 7 days of your sample being processed at the lab. Genetic tests like this one require specialized lab analysis, which is why the turnaround is longer than a standard blood test. You'll receive a notification as soon as your results are available in your account.

Who should consider this test?

This test is most relevant for families and individuals with a child who shows signs like developmental delay, distinctive facial features, poor muscle tone, feeding difficulties, or self-injurious behaviors. It's also useful when there's a known family history of Smith-Magenis syndrome or a related chromosome 17 condition. This test should be considered as part of a broader evaluation of unexplained developmental or behavioral symptoms.

What symptoms indicate I may need this test?

Common signs include infant feeding difficulties, weak muscle tone (hypotonia), slow growth, developmental delay, speech problems, and distinctive facial features that become more noticeable with age. Sleep disturbances and behaviors like self-injury or outbursts are also common as children get older. If several of these signs are present together, especially in early childhood, this test can help clarify whether a genetic cause is involved.

What is Smith-Magenis syndrome and why does it matter?

Smith-Magenis syndrome is a rare genetic condition caused by a missing piece of chromosome 17 or a change in a specific gene called RAI1. It affects physical growth, learning ability, behavior, and sleep patterns. Understanding whether a child has this condition matters because it helps guide expectations, connect families with the right support and educational resources, and inform care planning for related health issues.

What does a positive result mean?

A positive result means the lab found the specific chromosome 17 deletion associated with Smith-Magenis syndrome. This finding, combined with clinical symptoms, supports a diagnosis of the condition, though further testing may still be recommended to fully characterize the genetic change. It also opens the door to connecting with specialists in developmental and genetic conditions who focus specifically on this syndrome.

What does a negative result mean?

A negative result means this particular chromosome deletion was not found, but it does not fully rule out Smith-Magenis syndrome. Some cases are caused by smaller genetic changes in the RAI1 gene that this test cannot detect. If symptoms strongly suggest this condition, additional tests like chromosomal microarray or gene sequencing are usually the next step.

What should I do if my results are unclear or concerning?

If your results raise more questions, the most useful next step is usually broader genetic testing, such as microarray analysis or gene sequencing, which can catch changes this test might miss. Keep a detailed record of symptoms and family history, since this information helps interpret genetic findings accurately. Genetic counseling resources can also help you understand what a result does or doesn't mean for you or your child's health.

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.

Smith-Magenis Syndrome Test - Genetic FISH Analysis

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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