Genetic diagnosis with clinical exome
Whole exome sequencing with ACMG/AMP classification of variants. The reference diagnostic tool for genetic diseases of unknown cause.
When is an exome requested?
The clinical exome is indicated when there is suspicion of a genetic disease without an established molecular diagnosis, especially in complex or poorly specific phenotypes.
Developmental delay
Psychomotor delay, intellectual disability, autism spectrum disorders and multiple congenital anomalies.
Epilepsy
Early epileptic encephalopathies, refractory epilepsies and conditions with complex neurological phenotype.
Hereditary cardiopathies
Cardiomyopathies, channelopathies, aortopathies and congenital heart disease with family history.
Infertility
Male or female infertility with previous negative panels and suspicion of monogenic aetiology.
Deafness
Congenital sensorineural hearing loss, syndromic and non-syndromic deafness with inconclusive panels.
Metabolic diseases
Inborn errors of metabolism, lysosomal storage diseases and suspicion of mitochondriopathies.
What a clinical exome analyses
We cover all coding regions of the genome and the clinically relevant adjacent intronic zones.
- Coding regionsAll 20,000+ human genes with their exons and intron/exon boundaries ±10 bp.
- Single nucleotide variants (SNV)Single nucleotide changes with Q30>90% quality and mean depth of 100x.
- IndelsSmall insertions and deletions (<50 bp) validated with high-sensitivity callers.
- Exonic CNVDeletions and duplications of one or more exons detected by read depth.
- Splicing variantsIn silico analysis with SpliceAI and specific predictors for deep intronic variants.
- Annual reanalysisOption to reanalyse upon changes in the knowledge base (ClinVar, HGMD, OMIM).
The process, step by step
From consent to signed clinical report in a maximum of six weeks.
Medical prescription
The clinician requests the study with the phenotype coded in HPO terms and the informed consent.
Sample collection
2 EDTA K2 blood tubes or saliva. Free refrigerated courier included.
DNBSEQ sequencing
Exome capture, PE150 sequencing at 100x and bioinformatics analysis with a validated pipeline.
Report + counselling
Report signed by clinical geneticist and genetic counselling session included.
Why our exome
- ACMG/AMP classificationEach variant according to current international guidelines, with explicit criteria.
- Uniform >100x coverageSufficient depth for reliable detection of mosaicism and complex heterozygous variants.
- Trio analysis availableExome of patient and both parents for segregation filtering and de novo detection.
- Integrated CNVDetection of structural variants from the same data, without additional MLPA or array.
- Genetic counsellingIn-person or telematic session included with clinical geneticist.
- Upgradeable to WGSIf the exome is inconclusive, we scale up to whole genome without a new sample.
Complete clinical exome
Clinical Exome
Diagnosis of genetic diseases
- 20,000+ genes analysed
- Mean coverage 100x
- ACMG/AMP classification
- Exonic CNV included
- Signed clinical report
- Genetic counselling
- Turnaround 4–6 weeks
Do you have a clinical case to discuss?
Our team of clinical geneticists reviews complex phenotypes and advises on the most appropriate test.