What's this test for?

This test is ideal if you or a family member has features that raise concern for cri du chat (5p-) syndrome, such as low birth weight, weak muscle tone, a distinctive high-pitched cat-like cry in infancy, developmental delay, or unusual facial features. It helps confirm whether a piece of chromosome 5 is missing, which is the underlying cause of this rare genetic condition. This test is typically used when a doctor's clinical exam or family history has already raised suspicion for the syndrome.

What's included in this test?

This is a single, targeted genetic test rather than a panel of many biomarkers. It uses a lab technique called FISH (fluorescence in situ hybridization) to look specifically at chromosome 5 and check whether a piece of its short arm is missing. This focused approach makes it a precise tool for confirming or supporting a suspected diagnosis of cri du chat syndrome.

What happens after I get my results?

Your results will be available in your account, with an explanation of what the finding means and how it compares to a normal (no deletion detected) result. If a deletion is found, the report will describe next steps, which may include additional genetic counseling resources or further testing to understand the specific deletion. If no deletion is detected but symptoms persist, discussing further testing options like chromosomal microarray is a reasonable next step, since a negative result does not fully rule out the condition. The standard lab report is downloadable from your account, and you can track any related follow-up testing over time using the trends feature.

How can I naturally support my child's development if diagnosed?

While a chromosome deletion itself cannot be changed with lifestyle steps, early developmental support can make a real difference in outcomes. Simple things like early intervention programs, physical therapy for muscle tone, speech therapy, and consistent daily routines can help support growth and communication skills. Connecting with support groups for families affected by 5p- syndrome can also provide practical caregiving tips and emotional support.

When will I get my results?

Results for this test are typically ready within about 7 days of your sample being received at the lab. You'll be notified as soon as your results are posted to your secure online account. Because this is a specialized genetic test, turnaround can occasionally vary slightly depending on lab processing volume.

Who should consider this test?

This test is best suited for infants or children showing signs like poor muscle tone, low birth weight, a distinctive high-pitched cry, developmental delays, or unusual facial features that a clinical exam has flagged as concerning for cri du chat syndrome. It's also useful for families with a history of chromosomal deletions who want to check for this specific condition. It is generally ordered based on clinical suspicion rather than as a routine screening test.

What symptoms indicate I may need this test?

Key symptoms include a high-pitched, cat-like cry in infancy, low birth weight, weak muscle tone (hypotonia), a smaller-than-average head size, developmental delay, intellectual disability, and distinct facial features such as a round face or wide-set eyes. Dental issues like malocclusion can also be a clue. If several of these signs are present together, this test can help clarify whether a chromosome 5 deletion is the cause.

What is cri du chat syndrome and why does it matter?

Cri du chat syndrome is a rare genetic condition caused by a missing piece of the short arm of chromosome 5. It matters because the size and location of the missing piece affects how severe the symptoms are, ranging from mild learning differences to significant developmental and intellectual disabilities. Understanding the diagnosis early allows families to access therapies and support services sooner, which can improve long-term outcomes.

What does a positive (deletion detected) result mean?

A positive result means the lab found a missing piece of the short arm of chromosome 5, which confirms a diagnosis of cri du chat syndrome. The exact size of the deletion can influence how symptoms show up and how severe they may be. This finding is usually followed by connecting with early intervention and developmental support services as soon as possible.

What should I do if my results are unclear or symptoms continue despite a negative result?

A negative FISH result means no deletion was detected, but it does not completely rule out cri du chat syndrome, especially if the deletion is very small or unusual. If clinical suspicion remains high, following up with additional testing such as chromosomal microarray analysis or karyotyping is a reasonable next step. Keep a record of symptoms and growth milestones, as this information is helpful for any further genetic evaluation.

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.

Cri Du Chat FISH Test - Chromosome 5 Deletion 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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