Targeted familial variant
- WHAT IT CHECKS
- Checks an exact, previously known variant from a confirmed family report.
- MAIN BOUNDARY
- It does not replace a broad diagnostic search and cannot be based on a gene name, recollection or VUS.
RARE DISEASE / FIRST RELEASE 0.12
A rare disease is a clinical question—not a test name.
Panels, CMA, exome and genome detect different classes of change. Compare their roles, limitations and the place of reanalysis—without a symptom questionnaire, form-based diagnosis or automated test order.
METHODS IN THE MAP6
from an exact familial variant to reanalysis
CLINICAL QUESTIONS5
the method follows phenotype and previous testing
FORM-BASED DIAGNOSES0
the decision remains with the clinical team
LOCAL · NO FREE-TEXT SYMPTOMS · NO ANALYTICS
You select general categories only. They are matched in browser memory against a local method map and are not placed in the URL, cookies, storage, analytics, the controller’s server or an external API. Do not enter a diagnosis, symptoms, variant, family history, test number or report text—there are no such fields here.
The result is a comparison map—not a test order
The navigator explains which methods may be discussed for the selected clinical question, what each method can miss and which questions to ask a medical-genetics professional. It does not diagnose, estimate disease probability, or choose a laboratory or test for a clinician.
METHOD MAP
Six tools. Six different boundaries.
This is not a ladder from ‘worse’ to ‘better’. A method is assessed by clinical question, expected variant class, specimen, coverage and prior testing.
Single gene / panel
- WHAT IT CHECKS
- Focuses analysis on a specific hypothesis or group of genes with overlapping phenotypes.
- MAIN BOUNDARY
- Content and technical coverage vary; more genes do not automatically mean a better-fitting test.
CMA
- WHAT IT CHECKS
- Looks for genomic losses and gains—CNVs—at a defined resolution.
- MAIN BOUNDARY
- It generally does not answer most single-nucleotide variants or small indels.
Clinical exome
- WHAT IT CHECKS
- Analyses mainly protein-coding regions across many genes and can be useful for broad heterogeneity.
- MAIN BOUNDARY
- Coverage is uneven; repeats, some CNVs/SVs, mosaicism and non-coding variants may need another method.
Clinical genome
- WHAT IT CHECKS
- Covers coding and non-coding regions and may integrate several variant classes.
- MAIN BOUNDARY
- Broad coverage does not guarantee interpretability; laboratory and variant-class capabilities still require review.
Reanalysis
- WHAT IT CHECKS
- Re-evaluates data or a report using new gene/variant knowledge and an updated phenotype.
- MAIN BOUNDARY
- Reanalysis cannot recover a variant class the original assay could not technically detect.
CLINICAL LOGIC
Phenotype → method → result → reassessment.
- 01
Structure the phenotype
Not an online symptom list, but clinical features, age at onset, assessments and pedigree assembled by a relevant team.
- 02
Define relevant variant classes
SNVs/indels, CNVs, structural variants, repeats, mosaicism, mitochondrial DNA and methylation require different analytical capabilities.
- 03
Review the report—not just the headline
Method, coverage, genome build, transcript, classification, gene–disease validity and negative-result limitations are required.
- 04
Return to the question after the result
A VUS is not a diagnosis. A negative result is not exclusion. Reanalysis is useful only when the original assay’s capabilities are understood.
PRIMARY SOURCES
Not a test list. A versioned evidence map.
Editorial link check: 30 August 2026. International documents do not replace local indications, availability, laboratory accreditation or clinical guidance.