Ultimate genetic analysis covering the entire genome:

GENO-ME performs variant detection and interpretation using Whole Genome Sequencing (WGS), a comprehensive test technique encompassing the entire human genome, including single nucleotide polymorphisms (SNPs), insertions and deletions (Indels), copy number variations (CNVs), structural variants, repeat expansions, mitochondrial
DNA variants, and epigenetic modifications.

Superior diagnostic rate


WGS outperforms other genetic tests, including WES, by approximately 7-8%

Detection of Structural Variation (SV)

WGS tests excel in identifying Structural Variations (SV), encompassing single exon CNVs or balanced chromosomal rearrangements

Comprehensive Mitochondrial DNA (mtDNA) Coverage

WGS tests excel at detecting pathogenic variants in mtDNA, offering higher depth-ofcoverage compared to WES

Test Specification
Platform Illumina NovaSeq6000
Mean Depth of Coverage Approximately 30X
Mitochondrial Genome Coverage > 1000X
Read Length 150bp paired-end
Targeted Regions Covered at ≥ 20X ≥ 95%**
Variant Types SNV, INDEL, SV (including CNV)

GENO-ME test, conducted on the Illumina NovaSeq6000 platform, offers a mean depth of coverage of around 30X, with the mitochondrial genome having an exceptional coverage of over 1000X. The paired-end read length is set at 150bp, allowing for detailed analysis of genetic data

GENO-ME test provides robust coverage of targeted regions, with at least 95% of these regions having a depth of coverage greater than or equal to 20X. The analysis encompasses various variant types, including SNVs, INDELs, and SVs (including CNVs), all presented in an easily interpretable tabular format. This comprehensive approach ensures thorough detection and interpretation of genetic variations, enabling valuable insights for research, diagnostics, and personalized medicine.

Internal confirmatory testing is conducted using independent verification methods: Sanger sequencing; CNVs by Multiplex ligationdependent probe amplification (MPLA), quantitative polymerase chain reaction (qPCR) or chromosomal microarray (CMA)

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Efficient Genetic Testing with Whole Exome Sequencing:

GentoXome provides a highly effective genetic testing solution, targeting the exome region, and excels in detecting most rare genetic diseases. It proves valuable when identifying the underlying cause of disease challenging patient's condition.

Test Specification
Platform Illumina NovaSeq6000
Mean Depth of Coverage Approximately 100X
Mitochondrial Genome Coverage > 1000X
Read Length 150bp paired-end
Targeted Regions Covered at ≥ 20X ≥ 98%
Variant Types SNV, INDEL, CNV

Preliminary Genetic Testing Recommendation:

ACMG Guidelines for Developmental Disabilities:

The ACMG recommends using WES-based genetic testing as the initial test for children with developmental, cognitive, and intellectual disabilities.

Genetic Testing for Non-Specific Symptoms:


Indeterminate Genetic Diseases:

When a doctor suspects a genetic disease, but diagnosis solely based on patient phenotypes is inconclusive, WES becomes a valuable option for further investigation.

Undiagnosed Despite Multiple Tests:

If disease-causing variants remain undetected after multiple panel tests, a WES test should be strongly considered for comprehensive evaluation.

All-Inclusive Genetic Analysis:

Instead of pursuing numerous single or panel tests, patients and doctors can explore the benefits of a single WES test covering all genes, offering a comprehensive approach to diagnosis.

GentoXome: Faster, Cost-effective, and Personalized Exome Sequencing

GentoXome whole exome sequencing is faster, cost-effective, and personalized. Avoids unnecessary
treatments and assesses genetic heritability.

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Detects disease-causing DNA variants in selected protein-coding regions.

Clinical Exome Sequencing :

Beneficial for unclear medical conditions with possible gene changes, aiding diagnosis when specific genes are suspected.

Test Specification
Platform Illumina NovaSeq6000
Mean Depth of Coverage Approximately 100X
Mitochondrial Genome Coverage > 1000X
Read Length 150bp paired-end
Targeted Regions Covered at ≥ 20X ≥ 98%
Variant Types SNV, INDEL, CNV

Clinical Exome Test Highlights:

  • Paired-end read length of 150bp enables detailed genetic examination.
  • High coverage of targeted regions (≥20X in 95%) ensures reliable clinical evaluations.
  • Comprehensive analysis includes SNV, INDEL, and SV (including CNV) variants.
  • Ideal for medical diagnoses and personalized treatments.
Who should undergo Clinical Exome Sequencing Examples of Syndromes
Patients with genetically heterogeneous diseases Intellectual disability, Autism spectrum disorders, Epileptic encephalopathy, Cerebral palsy
Patients with a long list of differential diagnoses Undiagnosed multiple symptoms, Global developmental delay, Unexplained organ dysfunction
Patients with atypical presentations of genetic disorders Atypical muscular dystrophy, Unusual neurocutaneous disorders, Rare craniofacial anomalies
Patients who have exhausted other genetic testing options Hereditary breast cancer, Hereditary colon cancer, Hereditary cardiac conditions
Infants in NICU with life-threatening conditions and unknown cause Neonatal metabolic disorders, Severe congenital heart defects, Neonatal-onset epileptic encephalopathy, Neonatal respiratory distress

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