NovaNeuro
NDD & ASD testing
Could a genetic test help explain your child’s symptoms?
PHYSICIAN-ORDERED TEST
WES
A broad search of the protein-coding parts of your child’s DNA, interpreted alongside symptoms and family history.
$399
plus $70 kit and round-trip shipping
Whole-exome sequencing, or WES, looks across thousands of genes for changes that may help explain autism, developmental differences, epilepsy, language delay, intellectual disability, or related health concerns.
01 · BENEFITS OF WHOLE-EXOME SEQUENCING
If your child has autism spectrum disorder, neurodevelopmental disorder, or you are still looking for answers
Autism and other neurodevelopmental conditions can have many causes. WES searches the protein-coding parts of thousands of genes at the same time for changes that may help explain your child’s development or health needs.
A genetic finding may provide a clearer explanation and help the care team consider appropriate treatment, monitoring, referrals, or support. It may also provide information for relatives and future family planning.
Important to know
WES does not diagnose autism itself, guarantee an answer, or replace developmental and medical evaluation. Its role is to look for an underlying genetic cause.
02 · WHAT WES EXAMINES
A broad look across the parts of genes that make proteins
Genes are instructions used by the body. WES examines most of the sections of genes that provide instructions for making proteins. Many currently known disease-causing changes are found in these regions.
ABC
Small DNA changes
WES may find a single changed DNA “letter” or a small number of missing or added letters within a gene.
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Small missing or extra DNA
WES may identify some small deletions or duplications.
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Results matched to your child
Your child’s symptoms, development, examination findings, and family history help the team decide which genetic findings may be relevant.
WES may be considered for children with:
Language delay
Trouble understanding or using language
Speech delay
Late talking or difficulty saying words clearly
Developmental delay
Taking longer to reach milestones
Epilepsy or seizures
Repeated seizures or unusual movements
Intellectual disability
Learning and reasoning difficulties
Dysmorphic or distinctive physical features
Unusual facial or body features
Movement or balance concerns
Unsteady walking, poor coordination, shaking, stiffness
Unusual head size
A head that is smaller or larger than expected
Children with mild symptoms but with a family history
Children of a sibling affected by ASD/NDD, or with family members who are affected.
What WES may miss
WES does not examine all DNA and may not reliably detect every copy-number change, repeat expansion such as Fragile X, methylation or imprinting disorder, balanced chromosome rearrangement, low-level mosaic change, deep intronic change, or technically difficult region.
Your physician may recommend chromosomal microarray, Fragile X testing, WGS, or another test when appropriate.
03 · WHEN NO ONE ELSE IN THE FAMILY HAS AUTISM OR NEURODEVELOPMENTAL DISORDER
Could it still be genetic? Yes.
NEW
Sometimes a genetic change occurs for the first time in a child and was not inherited from either parent. This is called a de novo, or a new change.
Finding a new change may help explain the child’s condition. However, whether a finding causes disease depends on the strength of the scientific and clinical evidence, not simply on whether it is new.
04 · CAN IT HAPPEN AGAIN?
Family testing may help clarify inheritance
Some genetic conditions are caused by a change inherited from a parent. Others are caused by a new change in the child. Testing both biological parents with the child, called trio testing, may help determine which situation applies and improve interpretation.
A Cost-Conscious, Step-by-Step Approach
Nova generally begins by testing the child alone. If the initial result identifies a finding that could be clarified by testing the parents, trio testing may then be recommended. This approach helps families avoid paying upfront to test both parents when the child’s test finds nothing requiring parental follow-up.
NEW CHANGE
Not found in either parent
The chance of the same condition occurring again may be lower, but it is not always zero.
INHERITED CHANGE
Passed down from a parent
The chance of recurrence depends on the gene, how the condition is inherited, and whether the parent has the change. Your physician or genetic counsellor can explain the risk for your family.
05 · IS THE TEST COVERED BY INSURANCE?
Nova WES is offered as a self-pay test
Nova does not submit insurance claims, request prior authorization, or bill an insurer. The self-pay pathway is designed for families who want to avoid insurance approval delays, who do not have coverage, especially for children with mild symptoms that are unlikely to be covered by insurance, or whose deductible or co-pay may cost more than the self-pay option.
The test must still be ordered by a physician. The physician decides with the family whether WES is medically appropriate.
06 · POSSIBLE RESULTS
What might the report say?
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A genetic cause is found
A disease-causing change may explain some or all of your child’s condition. It may guide care, monitoring, referrals, family testing, or future family planning.
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No clear cause is found
The test did not find a confirmed disease-causing change among the small DNA changes examined across many genes associated with autism and neurodevelopmental disorders.
However, this does not totally rule out a genetic cause. The cause may involve a type of change that WES cannot reliably detect, a gene not yet known to be associated with the child’s condition, or scientific evidence that is still developing.
Your physician may recommend other testing or future reanalysis.
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An uncertain finding is found
A DNA change may be found, but there is not enough evidence to know whether it causes disease. It is not a confirmed diagnosis and should not be used alone for major medical decisions.
Your physician may recommend other testing or future reanalysis.
The chance that WES will find a genetic explanation
The chance of finding a clear genetic cause with WES is about 25–30% for children with neurodevelopmental disorders and about 15–20% for children with autism spectrum disorder. The chance may be higher when autism is accompanied by additional medical or developmental features.
07 · HOW TESTING WORKS
Physician-guided, with support along the way
1
Talk with your physician
You and your physician decide whether WES is appropriate. Your physician completes Nova’s guided clinical form with your child’s symptoms and family history.
2
Consent and self-pay
A parent or guardian reviews and signs the consent form, then pays the self-pay fee after the physician initiates the test.
3
Collect the cheek swab
A buccal-swab kit is shipped for simple at-home cheek collection and return to the clinical testing laboratory.
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Testing
Sequencing is performed by the Broad Clinical Labs in its CLIA-certified and CAP-accredited laboratory.
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Reporting
Findings are correlated with the child's symptoms and family history, and reported with clinical context, limitations, and appropriate next steps.
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Review the result
The report is sent securely to the ordering physician. Nova also provides a genetic counsellor-written summary in everyday English for parents.
08 - EVIDENCE-INFORMED CARE
WES is one part of a complete clinical evaluation
The American Academy of Pediatrics and the American College of Medical Genetics and Genomics recommend considering WES or WGS early for children with developmental delay, intellectual disability, birth differences, or epilepsy with developmental concerns.
WES may also help children with autism who have language delay, unusual physical features, an unusual head size, seizures, or other health concerns. It may be considered when earlier tests, such as chromosomal microarray or Fragile X testing, have not found a cause. This approach is described by the American Academy of Pediatrics and the CDC.
The American Academy of Child and Adolescent Psychiatry, Autism Speaks, and the Autism Science Foundation also support genetic evaluation for autism.
NEXT STEP
Talk with your child’s physician
Ask whether physician-ordered WES may be appropriate based on your child’s symptoms, medical history, prior testing results, and family history.