NovaGrowth
Unexplained short-stature testing
Could a genetic test help explain why your child is shorter than expected?
PHYSICIAN-ORDERED TEST
WES
A broad search of the protein-coding parts of your child’s DNA, interpreted alongside symptoms, growth measurements, and family history.
$399
plus $70 kit and round-trip shipping
Whole-exome sequencing, or WES, looks across thousands of genes that may affect growth, bones, hormones, or other parts of the body.
01 · BENEFITS OF WHOLE-EXOME SEQUENCING
“Idiopathic” today may become genetically explained tomorrow.
Some children are naturally shorter because of family height or later growth and puberty. Short stature can also result from nutrition, chronic illness, hormone conditions, bone-growth disorders, chromosome differences, or changes in individual genes.
A genetic finding may help when the child’s growth remains unexplained and the physician believes a genetic cause is possible. It searches hundreds of genes together instead of testing a few genes at a time.
WES 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 replace accurate growth measurements, physical examination, bone-age assessment, or appropriate endocrine and medical evaluation.
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.
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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:
Very short height
Height far below what is expected for the child’s age
Slowing growth
Falling across height lines on the growth chart
Different body proportions
Arms, legs, or trunk growing in an unusual proportion
Born small without catch-up
Remaining short after birth small for gestational age
Developmental differences
Learning or developmental concerns, or a head size smaller or larger than expected
Other health differences
Birth differences, unusual facial or body features, or concerns affecting several body systems
No explanation after evaluation
Routine growth, endocrine, nutritional, or medical testing has not found a cause
Children with mild symptoms but with a family pattern
Several relatives with significant short stature or a similar growth pattern
What WES may miss
WES does not examine all DNA and may miss some large deletions or duplications, chromosome changes, methylation or imprinting disorders, regulatory changes, low-level mosaic changes, and technically difficult regions.
If Turner syndrome is suspected, karyotyping may be considered first. If an imprinting disorder is suspected, special methylation testing may be needed.
03 · HOW A GENETIC ANSWER MAY HELP
A genetic diagnosis may provide more than an explanation.
1
Obtain a diagnosis
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.
2
Guide medical care
A diagnosis may guide care, monitoring, referrals, family testing, or future family planning.
3
Help the family
A result may explain inheritance, guide testing for relatives, and provide information for future family planning.
4
Inform growth-treatment discussions
A genetic finding may help the physician assess whether growth hormone could be considered, may be less likely to help, or requires caution.
Growth-hormone decisions: A genetic result does not by itself determine whether growth hormone should be used. Treatment decisions require evaluation by the child’s physician or pediatric endocrinologist.
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 15% for children with short stature but have no other health concerns.
The chance may increase to about 50–70% when a child also has unusual facial or body features, bone or joint differences, developmental concerns, birth differences, or signs of a genetic condition.
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.
4
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 2026 international guideline says WES may be considered after a child has had a careful growth and medical evaluation, and common non-genetic causes such as nutrition, chronic illness, or hormone problems have been assessed.
The American College of Medical Genetics and Genomics (ACMG) also includes WES as an option in the genetic evaluation of short stature. The most appropriate test depends on the child’s growth pattern, physical features, family history, and previous test results.
WES is not the first test for every child - other specialized genetic tests may be more appropriate when a particular condition, such as Turner syndrome or an imprinting disorder, is suspected.
NEXT STEP
Talk with your child’s physician
Ask whether physician-ordered WES may be appropriate based on your child’s growth pattern, examination, medical history, prior testing results, and family history.