Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Prognostic, Recurrence, Therapeutic management
A disorder characterized by recurrent seizures. [from SNOMEDCT_US]
Individuals with autism spectrum disorder, developmental delays or regressions, intellectual disability, congenital anomalies, and/or seizures. Unless suggested by specific phenotype and supported with peer-reviewed literature, it is recommended that NSDX is performed after a non-diagnostic chromosomal microarray/FirstStepDx PLUS.
- Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. - PubMed ID:
26757139
- Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. - PubMed ID:
26846091
- Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. - PubMed ID:
27431290
- Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. - PubMed ID:
27572814
- Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders. - PubMed ID:
28330790
- A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. - PubMed ID:
28333917
- Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities. - PubMed ID:
30952489
Not provided
Lower cost than traditional diagnostic pathways
Citations- A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. - PubMed ID:
28333917
- Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. - PubMed ID:
28759686
- Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. - PubMed ID:
29314763
Establish or confirm diagnosis
Citations- Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. - PubMed ID:
28759686
Avoidance of invasive testing
Citations- Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. - PubMed ID:
28759686
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