DG Clinical Exome®
The clinical exome study allows the analysis of genes of proven clinical relevance and associated with known clinical phenotypes.
Clinical areas
Broader studies
Documentation
- EDTA blood (1x 5 ml)
- Saliva (specific Isohelix kit)
- Buccal exudate (2x sterile isopes)
- gDNA (>30 ng/μl in >100 μl TE buffer)
Remember to label each sample with the patient's first and last name or with the identifier used on the request form.
DG Exome®
The DG Exome® whole exome study involves the sequencing of all coding genomic regions to obtain the maximum possible genetic information of the patient. From the sequencing of more than 20,000 genes, the genes to be studied can be sequentially selected according to the patient's phenotype.
Indications
- Genetic disease undiagnosed by previous genetic testing or there is an inconclusive result of a previous genetic testing.
- Heterogeneous and complex clinical phenotype leading to suspicion of several genetic diseases.
- Clinical phenotype that does not correspond to any known genetic disease.
- Absence of a specific genetic test.
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
DG Clinical Exome®
The DG Clinical Exome® clinical exome study allows the analysis of genes of proven clinical relevance and associated with known clinical phenotypes. This ensures maximum clinical utility of the study, avoiding inconclusive results.
In our study, we performed whole exome capture and sequencing and filtered and analysed the coding regions of more than 6,000 genes currently considered clinically relevant according to OMIM, HGMD and ClinVar reference databases, among others.
Indications
- Patients with complex clinical phenotype compatible with several genetic diseases.
- Suspected non-specific syndrome where selection of a particular set of genes is not possible.
- Complex disease with difficulties to establish whether it has a genetic basis or not and/or high genetic heterogeneity.
- Complex differential diagnosis.
Information
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Analysis: SNVs, Indels and CNVs -
Medium coverage: >100X -
Delivery time: 30 working days
Exoma trio
The analysis of a family trio involves the study of the clinical exome or complete exome in the patient and two relatives, usually their parents. The exome of each of the three members of the family trio is sequenced and the genetic sequences are then analyzed and compared to identify inherited variants and those that may have arisen de novo.
This strategy increases diagnostic yield compared to studying the patient in isolation.
Information
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Analysis: SNVs, Indels and CNVs in the patient -
Medium coverage: >100X -
Delivery time: 35 working days