More clarity for a child’s developmental journey.
Physician-ordered whole-exome sequencing (WES) for children with neurodevelopmental disorders, autism spectrum disorder & idiopathic short stature.
Designed to turn complex findings into clearer clinical information.
Self-pay WES is $399 plus $70 shipping, including an at-home cheek-swab kit and return shipping to the clinical testing laboratory.
Whole-genome sequencing is also available when broader analysis is clinically appropriate.
If your physician recommends genetic testing for a child with mild symptoms, or no symptoms yet but with a family history, insurance may not cover the test. Nova offers a straightforward self-pay option.
Even when testing is covered, Nova’s self-pay option may cost less than some deductibles or co-pays.
Physician ordered
Clinical Testing
Accessible
$469 standard US total
Clinically focused
Phenotype-informed interpretation
Clear report linking results to your child’s health
Supported
Genetic counselor’s explanation included
Genetic counselling available
CONDITIONS WE EVALUATE
Genetic answers for development and growth
Nova evaluates genetic causes of developmental differences, autism spectrum disorder, and unexplained short stature using whole-exome sequencing, with whole-genome sequencing available when indicated.
DEVELOPMENT & BEHAVIOR
01
Neurodevelopmental and autism spectrum disorders
Nova evaluates genetic causes of developmental differences, autism spectrum disorder, and unexplained short stature using whole-exome sequencing, with whole-genome sequencing available when indicated.
Autism spectrum disorder is highly heritable and often runs in families. Many autistic children also have co-occurring developmental or health conditions, such as speech or learning delays, intellectual disability, growth concerns, or epilepsy (also known as comorbidities). Sometimes, autism and related conditions are caused by changes in certain genes. Some associated health concerns appear early, while others may emerge as the child grows. A genetic diagnosis may help physicians understand what to monitor and choose treatments that work better for the child. For example, some forms of epilepsy and metabolic disorders have specific treatments. At Nova, our goal is to use genetic testing (WES or WGS) to find answers that can help. A genetic diagnosis may also clarify the comorbidities that may affect the child, allowing doctors to preemptively monitor for emerging illnesses. We provide easy-to-understand genetic reports to help parents and physicians understand what the findings mean, and provide the support the child needs at the right time - like therapy and medical monitoring, based on the child’s unique condition.
GROWTH
02
Unexplained short stature
Genetic testing may help explain why a child is significantly shorter than expected when routine medical testing has not identified a cause. Results may guide treatment, monitoring, and discussions about growth-related therapy.
Idiopathic short stature means that a child is significantly shorter than expected, but routine medical testing has not found a clear explanation. “Idiopathic” simply means that the cause is currently unknown, it does not mean that there is no cause. Some children are naturally shorter because of family height or later growth patterns. In others, a genetic change may affect bone growth, growth hormones, or development. Finding a genetic cause may help explain your child’s growth, guide treatment or monitoring, and identify other health concerns to watch for. Certain genetic findings may help the physician decide whether growth hormone therapy should be discussed. Some findings may support treatment, while others may suggest that it is unlikely to help or requires additional caution. Treatment decisions may depend on the genetic diagnosis and the child’s overall clinical findings.
FOR PARENTS
Understanding genetic testing
Developmental differences, autism, and unexplained short height can have many causes. Genetic testing looks for changes in DNA that may help explain your child’s development, growth, or health needs.
WES
What is whole-exome sequencing?
Whole-exome sequencing, or WES, examines most protein-coding regions of the genome. These regions represent a small part of our DNA but contain many variants currently known to cause genetic disorders.
Instead of testing one gene at a time, WES can assess thousands of genes together, helpful when different genetic conditions can have similar developmental features.
$
A self-pay path when insurance is a barrier
The standard price is $399 for physician-ordered WES plus $70 shipping, for a total of $469.
Shipping includes a buccal-swab kit for simple at-home cheek-swab collection for your child, and return shipping to the clinical testing laboratory.
This may be useful when testing is not covered, authorization is delayed, or a deductible or co-pay would cost more.
Your child’s clinical story matters
Many genetic tests do not find a clear cause or may return only uncertain findings.
We work with your physician to carefully collect your child’s symptoms, developmental history, and family history, then match this information with the genetic results. This approach may help make uncertain findings reported by other laboratories more meaningful by showing how they may relate to your child and whether they are worth following up.
We interpret findings in the context of your child, not DNA data alone.
WHAT TO EXPECT
Four steps, with support throughout
1
Talk with your clinician
You and your physician decide together whether testing is right for your child.
Your physician completes Nova’s guided clinical form, and our genetic counsellor reviews your child’s development, medical history, examination findings, and family history. You review and sign a consent form before testing.
2
Collect the cheek-swab sample at home
The shipping package includes a buccal-swab kit for simple at-home collection by gently swabbing the inside of your child’s cheek, plus return shipping to the clinical testing laboratory.
Testing both biological parents with the child (trio WES) often improves interpretation. This test option is available.
3
Laboratory analysis
Thousands of genes are analyzed for changes that may explain the child’s features.
4
Review the result
Results are typically available within six weeks.
Your physician, supported by our genetic counsellor, explains the result, its limitations, and what they may mean for your child’s care or family planning.
POSSIBLE RESULTS
Every result needs clinical interpretation
Nova provides a genetic counsellor-written summary of the findings in everyday English for parents.
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A diagnosis is found
A pathogenic or likely pathogenic variant may explain the child’s condition and can sometimes guide care, surveillance, referrals, or testing of relatives.
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No diagnosis is found
A negative result does not rule out a genetic cause. Some genetic changes may not be reliably detected by WES.
Your physician may recommend follow-up whole-genome sequencing (WGS) to look for additional findings.
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An uncertain result
Making uncertain findings more useful
Nova reviews uncertain genetic findings against your child’s symptoms. We highlight findings that may be relevant, helping your physician consider appropriate monitoring, further evaluation, or reanalysis in the future.
An uncertain finding does not confirm a diagnosis and should not be used alone to make medical decisions.
Could genetic testing help your child?
More information; frequently asked questions
Tests
For
Unexplained short height
For
Neurodevelopmental disorders Autism spectrum disorder
Explore NovaNeuro →
Explore NovaGrowth →
FOR PHYSICIANS
A phenotype-led genomic evaluation
WES is a recommended first diagnostic offering for genetically heterogeneous neurodevelopmental or short stature presentations (1-3).
Nova’s guided clinical form and genetic counsellor review convert each patient’s clinical presentation into structured phenotypes. The phenotype profile guides variant interpretation, enables comprehensive clinical correlations, and improves diagnostic yield.
Whole genome sequencing and reflex-to-trio-sequencing options are available.
Indications for testing:
Neurodevelopmental disorders (NDD)
Autism spectrum disorder (ASD)
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Intellectual disability, developmental delay or speech/ language delay
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Autism spectrum disorder with one or more neurodevelopmental disorder comorbidities, such as intellectual disability, developmental delay, language deficit, epilepsy, dysmorphic features, abnormal head size
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Epilepsy, movement disorder or hypotonia
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Microcephaly or macrocephaly, dysmorphic features
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A relevant family history, consanguinity, or an affected ASD sibling
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For children with mild symptoms and with an affected ASD sibling, or with an ASD family history - About 75% of ASD is inherited (*).
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ASD children with mild symptoms for whom physicians would like to determine if there is a genetic cause for comorbidity surveillance
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Congenital anomalies or a suspected genetic syndrome
* The Heritability of Autism Spectrum Disorder. JAMA. 2017;318(12):1182-1184.
Indications for testing:
Idiopathic short stature (ISS) (5-7)
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Height below the third percentile or markedly below the expected family range
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Poor growth or decreasing height percentiles over time
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Short stature affecting several family members
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Birth size that was small for gestational age without adequate catch-up growth
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Unusual body proportions, skeletal findings, or distinctive physical features
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Developmental delay, learning difficulties, congenital differences, or other health concerns
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Normal or inconclusive endocrine, nutritional, and other standard evaluations
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A suspected genetic condition that may affect treatment or health monitoring
Why use Nova's exome-first approach?
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WES is recommended as a first-tier test by guideline and policy statements for NDD (1-4) and ASD (6-10)
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The guideline emphasizes WES as a high-yield modality, second only to WGS, for ISS (11-13).
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Broad assessment across established and emerging disease genes
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Phenotype-driven variant interpretation using the child's clinical information
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A stepwise reflex strategy, from singleton WES to trio testing when needed, can confirm de novo variants while avoiding unnecessary upfront testing costs for families
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For patients with no findings, especially for syndromic children, options to reflex to whole genome sequencing available
TEST SELECTION
WES first. WGS when broader coverage matters.
WHOLE EXOME SEQUENCING
Protein-coding exons
Guideline-recommended, broad first-line assessment for many NDD & idiopathic short stature presentations
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NDD diagnostic yield: 28%-35%
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Isolated ISS cases: 15%
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Syndromic ISS cases: 26%
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ISS with skeletal abnormalities: up to 70%
Small nucleotide variants (SNVs), small indels, and limited copy number variant (CNV) analysis
Incomplete coverage of some exons; limited CNV detection
WHOLE GENOME SEQUENCING
Coding and non-coding genome-wide sequence
Unresolved cases requiring broader variant assessment
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NDD diagnostic yield is expected to be about 40-50%
SNVs, indels, CNVs, and non-coding variants, subject to assay validation
Interpretation of non-coding and complex variation remains incomplete
FEATURE
Primary scope
Best fit & diagnostic yield
Variant assessment
Limitations
REFERRAL WORKFLOW
Nova guides phenotype collection, reporting & counseling
The physician clinical form prompts entry of relevant developmental, neurological, behavioral, growth, congenital, and family-history information. Our genetic counselor prepares structured phenotypes for interpretation and retains them for post-test counselling.
Clinical summaries written for primary care teams and genetic counselor summary of findings for parents are included with the reports
01
Order and phenotype
Guided clinical form captures clinical presentation and family history
02
Review and sequence
Genetic counsellor review; sample QC then proceed to sequencing
03
Correlate and interpret
Phenotype-led review of diagnostic variants and selected VUS with evidence
04
Report and counsel
Clear interpretation written for primary care teams, with prognosis, recommended surveillance if indicated, limitations and next steps
Pre-test considerations
Discuss the possibility of positive, negative, or uncertain results, along with test limitations and potential implications for family members.
WES may not reliably detect all copy-number variants, repeat expansions such as Fragile X syndrome, methylation or imprinting disorders, balanced rearrangements, low-level mosaicism, or variants in technically challenging regions. Chromosomal microarray, Fragile X testing, methylation studies, or whole genome sequencing test may still be indicated.
A test result should be usable
Not just technically complete
THE NOVA APPROACH
Better phenotype in.
More clinically focused information out.
Extensive phenotyping
Nova's clinical form prompts the ordering physician to provide comprehensive symptoms and family history.
Phenotype-based VUS correlation
Nova combines detailed phenotyping with manual evidence review to identify VUS with stronger evidence of clinical relevance, including variants approaching likely pathogenic classification.
These findings are highlighted for physicians to consider surveillance for associated comorbidities that may not yet have emerged.
A VUS does not confirm a diagnosis and should not alone guide medical management.
Population-aware interpretation
Nova has over 10 years of experience in interpreting results from underrepresented populations, where most interpretation pipelines underperform.
Reports designed for primary care teams
Nova reports are designed for pediatricians and primary care clinicians without specialist genetics training. Each report explains the findings, how they relate to the child’s symptoms and health risks, possible comorbidities, prognosis, and test limitations. It also provides practical next steps, including surveillance when indicated, referrals, family testing, and follow-up.
A clear summary for parents
Nova provides a genetic counsellor-written summary in everyday English. It explains what was found, what it may mean for the child, their limitations, and possible next steps.
When parents understand the findings, they are better prepared to support their child’s care and watch for emerging health concerns.
CLINICAL TESTING GUIDE
Explore the complete NDD, ASD & idiopathic short stature testing pathway
Review detailed clinical indications, the WES-first pathway, when to consider WGS, test scope and limitations, result interpretation, and the self-pay ordering process.
For pediatricians, neurologists, developmental specialists, pediatric endocrinologists, geneticists, and primary care clinicians.
View physician testing pages
Explore NovaNeuro →
Explore NovaGrowth →
References
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Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report. Pediatrics. 2025;156(1):e2025072219.
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Diagnostic utility of trio–exome sequencing for children with neurodevelopmental disorders. JAMA Network Open. 2025;8(3):e251807
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ACMG Guidelines: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Nov;23(11):2029-2037.
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Addendum: Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine (2024), 101335
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Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study. J Med Genet. 2025 Apr 1:jmg-2024-110463.
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Return of genetic research results in 21,532 individuals with autism. Genetics in Medicine. Volume 26, Issue 10, October 2024, 101202
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State of the Art of Genetic Testing for Patients With Autism - A Practical Guide for Clinicians. Semin Pediatr Neurol 34:100804. 2020.
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Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder. Genes 2022, 13, 585.
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Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. PEDIATRICS Volume 145, number 1, January 2020.
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Practice Parameter for the Assessment and Treatment of Children and Adolescents With Autism Spectrum Disorder. . Volume 53, Issue 2p 237-257 February 2014
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International guideline on genetic testing of children with short stature. European Journal of Endocrinology. 2026;194(2)–R36.
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Focused revision: ACMG practice resource - genetic evaluation of short stature. Genetics in Medicine. 2021;23(5):813–815.
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International consensus guideline on small for gestational age: Etiology and management from infancy to early adulthood. Endocrine Reviews. 2023;44(3):539–565.