What's this test for?

This test is ideal if you're planning a family and want to know your carrier status for dihydrolipoamide dehydrogenase deficiency (DLDD), especially if you have Ashkenazi Jewish ancestry. It's also useful if you or a family member has unexplained symptoms like poor muscle tone, feeding problems, or lactic acid buildup that could point to a genetic metabolic condition. Many people use this test simply for peace of mind before starting a family.

What's included in this test?

This test looks specifically for two DLD gene changes that together explain most cases of this condition in people of Ashkenazi Jewish background. Screening for these two specific variants matters because it tells you and your partner your chances of passing this rare metabolic disorder on to a child, without needing broader, more expensive genetic testing.

What happens after I get my results?

Your results will show up in your online account along with a plain-language explanation of what a positive or negative carrier result means. If you test positive as a carrier, a practical next step is to have your partner tested too, since the condition only affects a child when both parents pass on a variant. You can download the official lab report anytime from your account, and if you test again in the future for other genetic panels, you'll be able to track your results over time. If a result raises urgent health concerns for a child already showing symptoms, seek medical care right away.

How can I naturally support metabolic health if I'm a carrier?

Being a carrier of a DLD gene variant does not affect your own metabolic health, since carriers typically have no symptoms at all. That said, general habits like eating a balanced diet, staying hydrated, and avoiding excessive fasting support healthy energy metabolism for anyone. If you're planning a pregnancy, focus on getting your partner tested and discussing family planning options based on both results.

When will I get my results?

Results are typically ready within about 7 days of your sample being processed at the lab. You'll get a notification as soon as your report is available in your secure online account, so there's no need to call and check.

Who should consider this test?

This test is a good fit for couples planning a pregnancy who want to know their genetic carrier status ahead of time, particularly those with Ashkenazi Jewish heritage where these variants are more common. It's also relevant for families with a history of unexplained metabolic or neurological symptoms in infants or young children. Anyone curious about their genetic background related to rare metabolic conditions can also consider it.

What symptoms indicate I may need this test?

In infants, warning signs include poor feeding, low muscle tone, vomiting, slow growth, and unusual sleepiness or lethargy. Older children or affected individuals might show developmental delays, stiffness or spasticity, seizures, or repeated episodes of unexplained illness during infections or fasting. If you've noticed these signs in a child, or if they run in your family history, this test can help identify an underlying genetic cause.

What is DLD deficiency and why does it matter?

DLD deficiency, also called maple syrup urine disease type III, is a rare inherited condition where the body can't properly break down certain proteins and produce energy correctly, leading to a buildup of harmful acids in the blood. It matters because untreated cases can cause serious problems like developmental delays, seizures, and repeated health crises, especially during illness or fasting. Knowing your carrier status ahead of a pregnancy lets you plan and get early testing for a newborn if needed.

What causes DLD deficiency to appear in a child?

A child only develops DLD deficiency if they inherit one altered gene copy from each parent, since it's a recessive condition. If both parents are carriers, each pregnancy has a 25% chance of the child being affected, a 50% chance the child is a carrier like the parents, and a 25% chance the child has no variant at all. This is why testing both partners is such an important step in family planning.

What should I do if my results are abnormal?

If you test positive as a carrier, the most useful next step is to have your partner tested for the same two variants to understand your combined risk for a future child. This information can then guide conversations about family planning options and whether additional prenatal or newborn testing makes sense. There's no need to worry about your own health, since carriers are generally healthy and unaffected.

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.

DLD Deficiency Test - Carrier Screening Panel

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

[email protected]

DLD Deficiency Carrier Genetic Test

Dihydrolipoamide Dehydrogenase (DLD) Deficiency

Prescription & all lab fees included

Doctor's guidance included

Fast & convenient

Prescription & all lab fees included

Doctor's guidance included

Fast & convenient

What's this test for?

What's included in this test?

What happens after I get my results?

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

Find a lab near you

DLD Deficiency Carrier Genetic Test

Prescription & all lab fees included

Doctor's guidance included

Fast & convenient

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