Delay in more than one area
When communication, movement, learning or interaction present persistent differences together, the professional may consider a broader investigation.
Patients and families Care journey
Genetic testing and developmental delay
Differences in speech, movement, learning or interaction can have many causes. When a genetic cause is involved, the test can help find an explanation, relate signs and guide the next steps in care.
The assessment considers the entire child and monitors changes over time.
When to consider
When genetic research can help.
Persistent differences in one or more areas of development deserve evaluation. The professional considers the child's trajectory, other signs, previous tests and family history before recommending a test.
Loss of skills
The loss of something the child already did must be promptly communicated to the healthcare team for evaluation, regardless of genetic testing.
Other clinical findings
Seizures, growth differences, vision or hearing changes, and congenital malformations can add information to the evaluation.
Family history
Family members with similar development, intellectual disability, neurological conditions or a known genetic diagnosis can guide the choice of test.
First step: Write down concrete examples, when they were noticed and how they changed over time. Milestone lists can help organize observations for the pediatrician.
What the test can add
A result can organize care—without promising all the answers.
When a cause is identified and confirmed in the clinical context, the information can support decisions shared with the care team.
- 01
Define or refine a diagnosis
The finding can link features that previously seemed separate and help name a condition.
- 02
Plan assessments and follow-up
Some diagnoses carry specific recommendations for surveillance, referral or support; still others have limited knowledge.
- 03
Understand family implications
The result can inform whether other relatives should receive guidance and how to talk about the risk of recurrence.
- 04
Find information and support
When a diagnosis exists, families can find compatible content, associations, and studies. Participating in research is voluntary, requires separate consent, is not a substitute for care, and may require clinical confirmation of findings.
Choice of test
From the most appropriate test to talking about the result.
Many conditions can present similar signs. The team may consider exome, genome or a targeted test depending on the clinical question, previous tests and the child's history.
Parts of genes that make proteins
It mainly evaluates the parts of genes used to produce proteins. It does not identify all types of genetic alteration.
Broader investigation
Analyzes the parts of genes used to make proteins and other regions of DNA. It also looks for more types of changes, but does not detect all possible causes.
Family context
When indicated and possible, comparing the child with the biological parents can help interpret variants. The absence of one or both parental samples does not necessarily preclude examination.
Important: panels, analysis of losses or duplications of stretches of chromosomes, repeat tests, chemical changes in DNA or metabolism may be more appropriate in specific situations. The choice takes into account signs and previous tests.
Compare exome and genomeTest day
Four stages, from assessment to monitoring.
The flow varies depending on the case and the test chosen. Recommended interventions and follow-ups do not need to wait for the genetic result.
Rating and history
The professional brings together development, physical examination, pregnancy, birth, family history, previous assessments and family priorities.
Choice and consent
The person responsible understands what the test analyzes, its limits, the possible results and the use of the data. The child or adolescent participates in the decision when possible, with an age-appropriate explanation.
sample collection and analysis
The team guides the appropriate sample, and the laboratory evaluates the data along with clinical information, within the scope of the test. Each family member separately authorizes the use of their sample and data.
Result and follow-up
The professional relates the report to the table, discusses the next steps and assesses whether a future review could be useful.
Results and limits
The report may bring certainty, uncertainty or no current explanation.
Every result needs to be interpreted with the child's history, the physical examination, the method used and the scientific knowledge available.
- 01
Diagnostic result
An alteration classified in the report as pathogenic (disease-causing) or probably pathogenic can explain the condition when it matches the signs and what is known about the gene.
- 02
Negative or inconclusive result
Failure to find an explanation does not exclude a genetic cause. Current knowledge, sample type and test limits influence the result.
- 03
Variant of uncertain meaning
A VUS does not yet have enough evidence to be considered a cause. It does not confirm diagnosis nor should it guide treatment, surgery, surveillance, prognosis or predictive testing. If reported in a NeoGenomica examination, it remains accompanied by Infinity VUS.
Frequently asked questions
Before deciding to test.
Does every developmental delay have a genetic cause?
No. Neurological, environmental, sensory, metabolic factors and other conditions may also be involved. In some children, more than one factor contributes to the condition.
Does a skill not yet acquired mean my child has a condition?
Not necessarily. An isolated landmark does not establish a diagnosis. Share the observation with your pediatrician, who will be able to evaluate the development as a whole and recommend formal screening when necessary.
Who can recommend genetic testing?
The qualified professional analyzes the signs, history and tests already carried out to determine whether genetic investigation can help and which test best answers the health question.
Are exome and genome the same thing?
No. The exome mainly analyzes the parts of genes used to make proteins. The genome examines a larger area of DNA and more types of alterations, within the limits of each test.
Do parents need to take the test?
Not always. Parental samples can help interpret the inheritance of variants, but the strategy depends on the availability of the family and the test requested.
For patients and families
Information for each stage of the journey.
Start with the topic that comes closest to your question.
