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Screening & genetics

ALD Newborn Screening: Results and Next Steps

A call about a newborn screening result can bring a lot of questions at once. This guide explains the follow-up process and helps you prepare for conversations with your baby’s care team.

Private draft — medical review pending. This guide is awaiting review by an ALD specialist before public launch. It is educational and does not replace advice from your care team. Follow their recommendations for testing and monitoring.

Draft updated November 8, 2026. This is an editorial update, not a completed medical review.

Three things to know first

  • An out-of-range newborn screen is a reason for more testing. It is not a diagnosis by itself.

  • Follow-up matters even when your baby looks healthy. Arrange the recommended next steps promptly.

  • A screening result cannot tell you which features of ALD a child will develop.

Sources: HRSA: screening results and follow-up · International ALD recommendations.

Just received an ALD newborn screening result?

Start here. A positive screen needs follow-up, but it is not a diagnosis or a prediction of your baby’s future. There is reason for hope, and you do not have to find answers alone.

On this page

What does newborn screening look for?

Newborn screening checks for signs of certain conditions before symptoms appear. ALD screening starts with a small blood sample collected on a newborn screening card. The lab looks for a fatty substance called C26:0-LPC. An elevated result can be a sign that more testing is needed. Some programs also look at the ABCD1 gene as part of screening.

“Positive,” “out of range,” or “screen positive” describes the screening finding. Ask your provider which wording your program uses and what it means for the next step.

Sources: Research review of ALD newborn screening methods · HRSA: understanding screening results.

Was ALD included in my baby’s screen?

U.S. screening programs are run by states and territories. Ask the program where your baby was born whether ALD was included at that time; today’s list may differ from an older one. An in-range result does not rule out every condition, including ALD. Discuss any health concerns or family history with your child’s provider even if screening was reported as normal.

Sources: Find your state’s program · California’s screening limitations · Pennsylvania screening outcomes, including a missed case.

What usually happens next?

The order of tests and the people involved can vary. Your baby’s provider or screening program should explain the next steps and how soon they need to happen. These are common parts of follow-up:

  1. Talk through the screening result. Ask what was measured, whether genetic testing has already been done, and which results are still pending.

  2. Complete the recommended testing. This may include another blood sample to measure fatty-acid markers and testing of the ABCD1 gene. A repeat or follow-up test may be different from the original screen.

  3. Meet the appropriate specialists. An ALD specialist and genetics team can bring the findings together. Ask who will coordinate results, referrals, and appointments.

  4. Review what the findings mean. Ask whether ALD has been confirmed, ruled out, or remains uncertain, and what the plan is while any questions are being resolved.

If you are waiting for a referral or a result and do not know what happens next, contact the provider or screening program. You do not need to wait until your baby seems unwell to follow up.

If your newborn is limp or floppy, unresponsive, or difficult to wake, call emergency services immediately. For poor feeding or other concerning signs of illness, seek urgent medical evaluation and contact your baby’s care team without delaying emergency care. These signs can have many causes and do not by themselves establish ALD.

Sources: HRSA: screening results and follow-up · ACMG: X-ALD follow-up guidance for clinicians.

Why are there different test reports?

It helps to keep the reports separate before asking how they fit together.

Newborn screening

Flags a possible condition and the need for follow-up. It is designed to find babies who need a closer look.

Biochemical testing

Measures substances in blood, such as very long-chain fatty acids or C26:0-LPC. Ask which test was done and how the specialist interprets it.

Genetic testing

Looks for a change, called a variant, in ABCD1. The laboratory’s classification describes the evidence about whether that change causes disease.

Specialists use genetic and biochemical findings together. Sometimes additional investigation is needed, including consideration of other conditions that can affect these markers. One number or one unfamiliar word on a report is not the whole picture.

Sources: International ALD recommendations, 2022.

What if the genetic report says “uncertain”?

A variant of uncertain significance (VUS) means the evidence about a genetic change is not clear enough. It does not, by itself, confirm or rule out ALD. “Pathogenic” and “likely pathogenic” address evidence that a variant causes disease; they do not describe how severe an individual child’s future symptoms will be. Ask a genetic counselor to walk through your actual report.

Our Grey Zone guide explains uncertain results, what further evidence may help, and how research fits into these conversations.

Sources: MedlinePlus: interpreting genetic results · International ALD recommendations.

If ALD is confirmed, what is monitoring for?

Diagnosis and symptoms are different things. For boys with confirmed ALD, specialists recommend monitoring the brain and adrenal glands even when they seem well. This can include MRI scans and blood tests. Brain changes can appear before outward symptoms.

The plan depends on the person’s age and findings. Recommendations for girls and women differ, so the same schedule should not be assumed for everyone. Ask what each test is looking for, when it is needed, how results will reach you, and what would lead to a change in the plan.

If the diagnosis is still uncertain, ask what follow-up is appropriate while that uncertainty is being worked through. A screen alone is not a treatment plan.

Sources: International ALD recommendations.

Read more in our draft guides to cerebral ALD and brain monitoring and adrenal health.

What could this mean for other family members?

A genetic result can raise questions about relatives as well as the baby. A genetic counselor can help you put together a family history, explain inheritance, and discuss whether testing relatives would be useful. A finding may be inherited or may be new in a family.

Women with ALD can develop symptoms in adulthood, too. A genetic counselor or ALD specialist can explain what a relative’s particular result means for her health. Ask for guidance that addresses each person rather than treating every relative’s situation as the same.

Sources: International ALD recommendations.

Our genetics and inheritance guide explains family testing and questions for a genetic counselor. The adult ALD guide and dedicated women with ALD guide cover adults’ own health needs.

Getting ready for your appointment

You do not need to learn every medical term before the visit. A few notes can help you leave with a clearer plan.

Keep these together

  • Copies of the screening report and any follow-up blood or genetic reports, with test dates and laboratory names.

  • A short list of results or referrals you are still waiting for.

  • The name and contact details of the person coordinating care.

  • Your two or three biggest questions, plus any changes or concerns you want to mention.

Questions to take with you

  • What has been confirmed, what is still uncertain, and which tests support those conclusions?

  • What is the next step, when should it happen, and who should we call if we have not heard back?

  • Do the blood and genetic results fit together? Is more testing needed?

  • What monitoring do you recommend now, and what is each test looking for?

  • What concerns should prompt a call between appointments, and who is available after hours?

  • Would a genetic counselor or testing for relatives help?

  • If the variant is uncertain, who will check for a revised interpretation and let us know?

Before you leave, try to get the next step, contact person, and expected timing in writing. If travel, scheduling, blood draws, or MRI visits feel difficult to manage, bring that up too. Those are part of the conversation.

A few terms you may hear

ABCD1

The gene examined in ALD genetic testing.

C26:0-LPC / C26:0-lysoPC

Names for a lipid marker used in ALD screening and follow-up testing. It is one piece of evidence.

VLCFA

Very long-chain fatty acids. Your team may discuss these blood measurements alongside the genetic findings.

Confirmatory testing

Follow-up tests used to clarify whether the condition flagged by screening is present.

Surveillance or monitoring

Planned checks over time, including when someone has no symptoms.

Sources: Research review of ALD newborn screening methods · International ALD recommendations.

Sources and further reading

The sources below informed this draft. Medical expert review is still pending.

Related blog posts

Family perspectives and research conversations on this topic.

Keep exploring

What is ALD? · Understanding the Grey Zone · Family support · ALD directory · All ALD resources

Draft updated November 8, 2026 · Medical expert review pending · The Lucas Project Foundation