Genomic diagnostics across
the full span of childhood

Children presenting with unexplained global developmental delay or intellectual disability of unknown etiology — particularly where standard chromosomal microarray has been non-diagnostic. WGS provides the highest resolution diagnostic yield in this population.

ASD with co-occurring intellectual disability, dysmorphic features, regression, or family history suggesting a syndromic etiology. Genomic workup can identify underlying causes, inform recurrence risk counseling, and direct targeted management.

Pediatric-onset epilepsy that is difficult to control, associated with developmental regression, or presents without a clear structural or metabolic cause. Early genomic diagnosis guides medication selection, identifies gene-specific therapies, and avoids ineffective or contraindicated treatments.

Two or more structural anomalies in the same child — particularly when involving multiple organ systems or when chromosomal microarray is negative. WGS detects single-gene causes of multi-system malformations not visible by standard cytogenetic methods.

Children who have undergone extensive workup without a diagnosis, or where clinical presentation suggests a rare genetic syndrome not captured by targeted panels. WGS is the most efficient single-test diagnostic strategy for rare disease — often ending multi-year diagnostic odysseys.

Presentations consistent with inborn errors of metabolism, mitochondrial dysfunction, or organic acidemias in infants or older children — including episodic decompensation, hypoglycemia, lactic acidosis, or failure to thrive with unclear etiology.

Children who had abnormal or borderline NBS results in the newborn period and require ongoing genomic characterization to clarify pathogenicity, guide prognosis, or refine management as they progress through early childhood and beyond.

Children diagnosed with cardiomyopathy, arrhythmia syndromes (long QT, Brugada, CPVT), or structural heart disease with a suspected genetic etiology. Genomic diagnosis informs cascade family screening and eligibility for gene-specific therapy protocols.

Children with cancer diagnoses where hereditary tumor predisposition syndrome is suspected — including Li-Fraumeni, DICER1, APC, or BRCA pathway variants. Identification of germline predisposition changes surgical planning, surveillance protocols, and family counseling.

Children with recurrent, severe, or unusual infections suggestive of primary immunodeficiency. Comprehensive genomic evaluation identifies the causative gene and informs treatment approach — including whether hematopoietic stem cell transplant is indicated.

Children with progressive muscle weakness, hypotonia, myopathy, or motor regression where standard EMG, biopsy, and panel-based testing is inconclusive. WGS detects causative variants in over 500 neuromuscular disease genes — including deep intronic and structural variants.

Pediatric patients presenting with joint hypermobility, aortic dilation, lens dislocation, or features suggestive of Marfan syndrome, Ehlers-Danlos, or Loeys-Dietz syndrome. Early diagnosis drives aortic surveillance schedules and preventive cardiac management.