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NovaNeuro 

​

NDD & ASD testing 

​​​

A physician-ordered,

phenotype-informed pathway

for

  • Neurodevelopmental disorders

  • Autism spectrum disorder

NOVA TESTING PATHWAY

1

2

INITIAL TEST

WES​

Broad assessment of coding regions with phenotype-driven interpretation.

$399

WES

$70

kit + round-trip shipping

≤6 weeks

after an acceptable sample

unresolved or complex presentation

PHYSICIAN-SELECTED ESCALATION

WGS​

Broader genomic assessment when clinically appropriate.

INDICATIONS FOR TESTING​

NDD 

Global developmental delay

Delay in two or more developmental domains, particularly when unexplained after history, examination, hearing/vision assessment, and other clinically directed evaluation.

Intellectual disability

Unexplained intellectual disability of any severity. Yield may be higher when accompanied by epilepsy, dysmorphism, congenital anomalies, abnormal growth, or a positive family history.

Epilepsy or seizure disorder

Early-onset, drug-resistant, syndromic, or otherwise unexplained epilepsy, especially with developmental impairment, regression, multiple seizure types, or neurological abnormalities.

Speech or language delay

Marked receptive, expressive, or mixed language impairment when accompanied by broader developmental, behavioral, neurological, motor, or family-history findings.

Hypotonia or movement abnormality

Unexplained central hypotonia, motor delay, ataxia, dystonia, tremor, abnormal gait, or another movement phenotype—particularly when developmental features are also present.

Congenital, dysmorphic, or growth findings

NDD with multiple congenital anomalies, distinctive physical features, skeletal findings, abnormal growth, microcephaly, or macrocephaly suggesting a syndromic diagnosis.

Developmental regression

Loss of previously acquired language, motor, social, or cognitive skills. Consider urgent evaluation for genetic, metabolic, epileptic, or neurodegenerative etiologies.

ASD

Autism with one or more of the above NDD clinical features

ASD accompanied by symptoms such as developmental delay, intellectual disability, seizures, regression, congenital anomalies, dysmorphic features, or abnormal head growth.

Children with mild ASD symptoms, or non-syndromic presentations but with a family history of NDD or an affected sibling

ASD with a relevant family history, consanguinity, or an affected sibling

CLINICAL UTILITY

How an etiologic diagnosis may change care.

Etiologic diagnosis

Identify a pathogenic or likely pathogenic variant that may explain all or part of the patient’s presentation.

Prognosis, anticipatory comorbidities

Clarify expected clinical features and identify associated conditions that may emerge over time.

Management, surveillance

Support condition-specific surveillance, referrals, treatment discussions, and multidisciplinary care when clinically indicated.

Parental testing

Determine whether a finding is de novo or inherited, which may support reclassification from VUS to likely pathogenic.

Recurrence counselling

Refine reproductive risk according to the diagnosis, inheritance pattern, penetrance, and possibility of germline mosaicism.

Diagnostic efficiency

​Reduce serial testing and repeated referrals when a genomic diagnosis resolves a complex presentation.

RECURRANCE RISK

De novo findings

A variant present in the child but absent from parental samples may support pathogenicity and generally lowers, but does not eliminate recurrence risk because germline mosaicism may occur.

Inherited findings

Recurrence risk depends on the mode of inheritance, penetrance, and parental phenotype. Some autosomal-dominant findings may confer a 50% transmission probability.

TEST PROCESS & LABORATORY

Clinical sequencing through the Broad Clinical Labs

BCL

Broad Clinical Labs

Clinical sequencing is performed by Broad Clinical Labs, a CLIA-certified and CAP-accredited subsidiary of the Broad Institute.

Accreditations:

  • CLIA Number: 22D2055652

  • ​CAP Number: 8707596​

1

Physician order

Select WES and complete Nova’s guided clinical form (physician attestation).

2

Counsellor review

Our genetic counsellor reviews, structures the phenotypes, and prepare HPO terms before analysis and interpretation.

3

At-home collection

The family receives a buccal-swab kit for cheek-swab collection and return shipment to the clinical laboratory.

4

Clinical sequencing

Sequencing is performed by Broad Clinical Labs in its CLIA-certified and CAP-accredited laboratory.

5

Interpretation and reporting

Findings are correlated with the phenotype and reported with clinical context, limitations, and appropriate next steps.

6

Result review

The physician receives the report; physician summary written for primary care teams, and genetic counselor summary in everyday English are included.

Comprehensive ASD Gene and Symptom-Based Analysis

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ASD Gene Analysis

Nova analyzes approximately 450 genes that are closely associated with autism spectrum disorder (ASD) and related comorbidities. These include

  • Single-letter DNA changes - single nucleotide variants (WES & WGS)

  • Small insertions/deletions (WES & WGS)

  • Mutations at gene splice sites, which may affect how genes are read by the body (WGS, limited analysis with WES)

  • Copy number variants (CNVs) on all 450 ASD genes and large chromosomal CNV beyond this list (WGS, very limited analysis with WES).

Genome-Wide Analysis Based on Symptoms​

  • Beyond the 450 core genes, the test also looks at additional genes linked to ASD symptoms and co-occurring issues, based on standardized clinical features (HPO terms), such as:

    • ​Intellectual disability

    • Developmental and language delay

    • Neurological or behavioral abnormalities

    • Social and communication challenges

CLINICAL REPORT

Four principal result categories

Pathogenic/Likely Pathogenic
01
Positive Finding

​

A pathogenic or likely pathogenic variant may establish or support an etiologic diagnosis.​

Potential value

Diagnosis, prognosis, surveillance, referrals, condition-specific management, family testing, or reproductive counselling.

NEG
02
Negative finding

​

No reportable disease-causing variant was identified with the current test and knowledge.

Clinical implication

No disease-causing single nucleotide variants in coding regions was detected. A genetic etiology is not excluded. Consider alternative tests such as WGS, and future reanalysis of WES data.

VUS
03
Uncertain finding

​

Variant of uncertain clinical significance (VUS) was detected. Available evidence is insufficient to classify the variant as disease-causing or benign.

Clinical implication

Do not use a VUS alone for diagnosis or major management decisions. Segregation, phenotype evolution, functional evidence, or future reanalysis may help.

PHENOTYPE-CORRELATED REVIEW

Selected uncertain findings may still deserve clinical attention.

04

Nova manually correlates selected VUS with the patient’s phenotype and current evidence.

 

Findings with a meaningful clinical fit and emerging evidence may be highlighted for conservative follow-up or reassessment of evolving comorbidities. They remain uncertain and do not independently justify treatment.

ORDERING & SUPPORT

Physician ordered. Family self-pay. No insurance submission.

Physician responsibilities

  • Complete Nova’s guided clinical form (requisition form)

  • Enter clinical indications and select the appropriate test

 

For parents/patients

  • Discuss possible positive, negative, and uncertain results

  • Review limitations, consent, and family implications

  • Receive and disclose the clinical report

Clinical report is emailed or fax to the ordering physician​

Nova support

  • Pre-test physician support - indications for testing, singleton vs trio/duo testing, WES vs WGS, test limitations

  • Physician-friendly interpretation and next-step summary

  • Parent explanation written in everyday English

  • Post-test genetic counselling and reanalysis options available

Testing Available in All U.S. States Except New York

Nova currently accepts physician orders for patients residing in all U.S. states except New York.

​

Testing is not currently available to New York residents.

Genetic Counseling Available

Genetic counseling is available to help patients and families understand what the results mean, family testing, or future family planning.

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Genetic counseling is available through DNAvisit, which provides genetic counseling services nationwide. A 30-minute session costs approximately $150. Appointment information will be provided with the genetic test report.

Fees are set by DNAvisit and are subject to change. ​

Billing and refund policy

This is a self-pay service. The standard WES price is $399, plus $70 for the buccal-swab kit and round-trip shipping. Patients or families pay directly through the Nova website.

 

Nova does not verify insurance benefits, request prior authorization, or submit claims.

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Tests are non-refundable after online ordering. If the sample fails quality control and testing cannot proceed, the test fee will be refunded, but the $70 shipping fee will not.

EVIDENCE

Evidence informing the clinical pathway

The American Academy of Pediatrics and the American College of Medical Genetics and Genomics (ACMG) recommends considering whole-exome or whole-genome sequencing as a first-tier test for children with developmental delay, intellectual disability, or congenital anomalies, including children who also have epilepsy.

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These features may occur alongside autism spectrum disorder and may increase the likelihood of identifying an underlying genetic cause.​ WES may be considered for ASD children with these NDD features.

 

For children with autism without these specific NDD features, but with other comorbidities such as language delay, dysmorphic features, microcephaly, the American Academy of Pediatrics, the American Academy of Child and Adolescent Psychiatry, Autism Speaks, the Autism Science Foundation and the CDC recommend considering WES when earlier testing has not identified a genetic cause (such as Fragile X or microarray testing). 

References

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  1. Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report. Pediatrics. 2025;156(1):e2025072219.

  2. Diagnostic utility of trio–exome sequencing for children with neurodevelopmental disorders. JAMA Network Open. 2025;8(3):e251807.

  3. The Heritability of Autism Spectrum Disorder. JAMA. 2017;318(12):1182-1184.

  4. Comorbidities in autism spectrum disorder and their etiologies. Translational Psychiatry (2023) 13:71.

  5. Age at autism spectrum disorder diagnosis: A systematic review and meta-analysis from 2012 to 2019. Autism. 2021 May;25(4):862-873.

  6. Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism. A Randomized Clinical Trial of Outcomes to Diagnosis. JAMA Pediatr. 2021;175(11)

  7. Recent Advances in Understanding the Genetic Architecture of Autism. Annu Rev Genomics Hum Genet. 2020 Aug 31:21:289-304.

  8. Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study. J Med Genet. 2025 Apr 1:jmg-2024-110463.

    • This study assessed the real-world clinical utility of whole genome sequencing (WGS) in 202 families affected by autism spectrum disorder (ASD). Among them: 100 families (49.5%) had WGS findings deemed clinically significant.

    • The study demonstrates that genomic data can provide value beyond diagnosis, including identification of treatable metabolic or neurogenetic conditions.

  9. Return of genetic research results in 21,532 individuals with autism. Genetics in Medicine. Volume 26, Issue 10, October 2024, 101202

    • In a study of over 21,000 individuals with autism, likely pathogenic or pathogenic genetic variants were found in about 8.6%, most of which were previously unknown to the participants. These findings highlight the value of obtaining actionable genetic diagnoses, particularly in individuals with co-occurring medical or cognitive conditions​

  10. State of the Art of Genetic Testing for Patients With Autism - A Practical Guide for Clinicians. Semin Pediatr Neurol 34:100804. 2020.

    • ​In State of the Art of Genetic Testing for Patients with Autism, Kreiman and Boles argue that whole genome sequencing (WGS) not only offers a cost-effective alternative to multiple separate tests, but also provides actionable insights that can improve patient outcomes.

    • They highlight that, in clinical practice, identifying genetic risk factors through testing has led to better results in up to half of the cases.​

  11. Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder. Genes 2022, 13, 585. 

  12. Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. PEDIATRICS Volume 145, number 1, January 2020.

    • "Genetic evaluation should be recommended and offered to all families as part of the etiologic workup." From the American Academy of Pediatrics, Clinical Report, January 01 2020 

  13. Practice Parameter for the Assessment and Treatment of Children and Adolescents With Autism Spectrum Disorder. . Volume 53, Issue 2p 237-257 February 2014

    • "All children with ASD should have a medical assessment, which typically includes physical examination, a hearing screen, a Wood's lamp examination for signs of tuberous sclerosis, and genetic testing." From the American Academy of Child and Adolescent Psychiatry.

  14. 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.

  15. 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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Recommendations from Professional Societies/Organizations​/CDC

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  1. The American Academy of Pediatrics (AAP) recommends exome or genome sequencing as a first-tier genetic test for children with global developmental delay (GDD) or intellectual disability (ID) in most circumstances. Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report. Pediatrics. 2025;156(1).

  2. "We recommend anyone with an autism diagnosis get genetic testing. Unfortunately, less than half of people with autism do." Autism Speaks. https://www.autismspeaks.org/expert-opinion/genetic-testing-autism

  3. "The Value of Genetic Testing- With the improvement of genetic testing techniques, identifying genes contributing to an autism diagnosis is becoming increasingly precise. Currently, a genetic cause of autism can be pinpointed in around 20% of cases. While guidelines vary slightly, most professional organizations associated with autism recommend genetic testing for affected families. Testing can aid our understanding of autism symptoms as well as provides therapeutic options for individuals with a diagnosis." Autism Science Foundation. https://autismsciencefoundation.org/year-end-summary-2024/

  4.  "For example, your healthcare provider might recommend a type of chromosome testing called a chromosomal microarray if your child has autism spectrum disorder." "If your child has autism spectrum disorder, your healthcare provider might recommend whole exome sequencing if other testing does not find a cause." CDC. ​https://www.cdc.gov/genomics-and-health/counseling-testing/genetic-testing.html

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