WHEN SHOULD I CONSIDER MaXome®?
COMPLEX PHENOTYPES
SUSPECTED RARE DISEASE
GENETIC HETEROGENEITY
Patient presentations involving multiple organ systems or complex clinical features that suggest an underlying genetic etiology but lack a clear diagnostic direction.
Cases where a single-gene or small panel approach is unlikely to capture the broad differential diagnosis required for rare mendelian disorders.
Clinical conditions known to be caused by variants in any of hundreds of different genes where a comprehensive exome approach is more efficient.
MULTISYSTEM DISEASE
Scenarios where clinical manifestations cross traditional specialty boundaries, requiring a broad genomic lens to identify a unifying diagnosis.
UNCLEAR INHERITANCE
Cases with atypical family histories or suspected de novo occurrences where wide-scale exome analysis provides the necessary clinical context.
When targeted panels or chromosomal microarrays have failed to yield a diagnosis, MaXome® expands the scope to the entire protein-coding region.
Periodic re-evaluation of existing exome data in light of evolving clinical features or newly published gene–disease associations.
A BROADER EXOME-BASED STRATEGY MINIMIZES THE NEED FOR SEQUENTIAL TESTING AND ACCELERATES THE DIAGNOSTIC PATHWAY.
CLINICAL INFORMATION IS PART OF THE ANALYSIS.
DETAILED PHENOTYPE
Comprehensive clinical documentation of the patient's symptoms and presentation to guide diagnostic focus.
INHERITANCE CONSIDERATIONS
Assessment of de novo, autosomal dominant, recessive, X-linked, or mitochondrial inheritance models.
RELEVANT INVESTIGATIONS
Other diagnostic data, including imaging and laboratory tests, to refine phenotype-variant correlations.
FAMILY HISTORY
A detailed multi-generational pedigree helps identify possible inheritance patterns and co-segregation.
PREVIOUS GENETIC TESTING
Results from previous panels or microarray to prevent redundant findings and focus on unresolved questions.
THE SEQUENCE DOES NOT CHANGE. THE CLINICAL AND SCIENTIFIC CONTEXT EVOLVES.
FROM PHENOTYPE TO GENOMIC PRIORITIZATION.
01
Clinical phenotype data is integrated with genomic evidence for high-precision variant prioritization.
CLINICAL PHENOTYPE
02
Deep phenotyping information is structured into standardised computational terms.
PHENOTYPE STRUCTURING
03
Gene–Phenotype Correlation
Review of genes associated with clinical features and assessment of pathogenic potential.
04
Analysis of inheritance patterns based on family history and segregation data.
INHERITANCE ASSESSMENT
05
Systematic prioritization of high-interest variants using bioinformatics and phenotypic context.
VARIANT PRIORITIZATION
06
Analysis of population frequencies, computational predictions, and functional literature.
EVIDENCE EVALUATION
07
Variants are reported according to clinical significance and international guidelines.