Complete genome as a basis
Investigates sequence variants in nuclear and mitochondrial DNA, as well as regions outside the exome, within the technical limits of NeoGenoma.
WGS+FMR1 ASD and neurodevelopment
NeoGenoma TEA: integrated genetic investigation.
NeoGenoma TEA combines whole-genome sequencing, deletion and duplication analysis, and a dedicated test for the expansion associated with Fragile X in a single order.
Understand what is included- Accepted samples
- Peripheral blood, Buccal swab, Extracted DNA
- Turnaround time and when it starts
- Published turnaround time: up to 20 calendar days; confirm when this period starts with our team.
- Medical order
- Required. View requirements and limitations.
A more direct journey
Three diagnostic questions in the same flow.
Instead of organizing successive investigations, the test brings together sequence analysis, copy number, and Fragile X from the beginning. The goal is to reduce steps without simplifying clinical interpretation.
Deletions and duplications
CNV analysis looks for gains and losses of genetic material throughout the genome, according to the validated scope of the assay.
Dedicated Fragile X analysis
The CGG expansion in FMR1 requires specific assessment and is not inferred from conventional genome sequencing alone.
Clinical indication
When to consider NeoGenoma TEA.
The indication depends on clinical assessment, family history and previous tests. The diagnosis of ASD remains clinical.
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01
Autism Spectrum Disorder
Etiological investigation in people with a clinical diagnosis of ASD, especially when there are other associated signs.
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02
Global delay or intellectual disability
Persistent differences in multiple domains of development or intellectual disability without a defined cause.
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03
Syndromic picture
ASD or delay associated with epilepsy, regression, dysmorphia, malformations or growth changes.
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04
Relevant family history
Relatives with ASD, intellectual disability, developmental delay or a condition related to FMR1.
Scope and limits
Broad scope with explicit limitations.
A broad examination can bring together more hypotheses, but does not identify all possible causes of ASD or neurodevelopmental delay.
The analysis considers
Variants, CNVs and FMR1.
- SNVs, small indels, and other classes within the validated scope of NeoGenoma.
- CNVs, including deletions and duplications detectable by the method.
- CGG expansion in FMR1 through dedicated Fragile X analysis.
- Correlation with reported clinical signs and family history.
Important limitations
A negative result does not end every investigation.
- Not every case of ASD or neurodevelopmental delay has a genetic cause identifiable with current technologies.
- Complex regions, low-fraction mosaicism, epigenetic changes, and other expansions may require specific methodologies.
- A negative result does not exclude a genetic contribution and does not, in itself, modify the clinical diagnosis of ASD.
- The interpretation must be made by the treating healthcare professional in conjunction with the clinical picture.
Testing process
From indication to integrated report.
A single stream to coordinate genomic research and dedicated Fragile X analysis.
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01
Clinical indication
The request, phenotype and family history guide the analysis.
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02
A single sample collection
A peripheral blood sample is prepared for the analyses included in the test.
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03
Whole genome
The DNA goes through sequencing, quality control and analysis of variants and CNVs.
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04
Fragile X Analysis
CGG expansion in FMR1 is assessed by dedicated assay.
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05
Integrated report
The findings are classified and interpreted in relation to the reported clinical picture.
Frequently asked questions
Before requesting the test.
Does NeoGenoma TEA diagnose autism?+
No. The diagnosis of ASD is clinical. The test looks for a possible genetic cause and can contribute to monitoring and counseling the family when a relevant finding is identified.
Why does Fragile X need a dedicated analysis?+
Fragile X syndrome generally results from an expansion of CGG repeats in FMR1. This change is not reliably assessed by conventional sequencing alone, which is why the examination includes a specific test.
Does the test replace separate exome, array and Fragile X tests?+
It brings together, in a single flow, investigation of sequence variants, CNVs and Fragile X. Equivalence depends on the validated scope of each methodology; Specific situations may still require additional examinations.
Does a negative result rule out a genetic cause?+
No. The change may be outside the current scope of the examination or available scientific knowledge. The result should be discussed with the assistant team, who may consider reanalysis or another strategy.
Is a medical request necessary?+
Yes. The hypothesis, clinical signs and family history are essential to guide the analysis and interpretation of findings.
Support with test selection
Discuss the case with our team.
We provide guidance on the scope, sample, documentation and limits of NeoGenoma TEA before sample collection.
Test information
Technical details for NeoGenoma TEA
Method, scope, requirements and limitations
Integrated investigation of ASD and neurodevelopmental delay using whole-genome sequencing, CNV analysis and a dedicated Fragile X test.
- Applications
- Rare and hereditary diseases, Genome-wide investigation
- Accepted samples
- Peripheral blood, Buccal swab, Extracted DNA
- Estimated turnaround time
- Published turnaround time: up to 20 calendar days; confirm when this period starts with our team.
- Methodology
- Whole-genome sequencing (WGS), CNV analysis and dedicated testing of CGG repeat expansion in FMR1 for Fragile X.
- Analytical scope
- Sequence variants in nuclear and mitochondrial DNA, regions outside the exome, and deletions and duplications within NeoGenoma’s technical limits; CGG expansion in FMR1 assessed by dedicated analysis.
- Medical order
- Required
Requirements
A medical order, clinical hypothesis, clinical signs and family history to guide the analysis. A peripheral blood sample is prepared for the analyses included in the test.
Limitations
It does not identify every cause of ASD or neurodevelopmental delay. Complex regions, low-level mosaicism, epigenetic changes and other expansions may require specific methods. A negative result does not rule out a genetic contribution or, by itself, change the clinical diagnosis of ASD.
Additional information
Published turnaround time: up to 20 calendar days; confirm when this period starts with our team.
