Shortening the rare disease diagnostic odyssey with precision technology
Comprehensive whole genome analysis: a new era for rare disease diagnosis and treatment
Our whole genome approach to rare disease offers comprehensive analysis of a patient’s genetic information, which can provide clinically meaningful insights that aid in diagnosis and enable the development of personalized treatment plans.
Targeted Panel
<0.1%
Genome wide coverage: <0.1%
No copy number variations
No structural variations
Whole Exome
1-2%
Genome wide coverage: 1 - 2%
Inaccurate copy number variations
No structural variations
Whole Genome
>90%
Genome wide coverage
Copy number variations fully covered
Structural variations fully covered
Why RareVision?
Whole genome sequencing provides a more complete view (>90%) of your genetic makeup than other tests.
Our whole genome sequencing approach enables precise identification of disease-associated variants, including non-coding variants and structural variations that are often missed by other sequencing methods. By improving sensitivity and providing a refined understanding of the patient's condition, we offer valuable insights that inform diagnostic and treatment decisions.
Comprehensive genomic testing through a whole genome approach is beneficial for patients who have:
Rapidly deteriorating clinical status
Multiple congenital anomalies
Genetically heterogeneous disease
Long list of differential diagnoses
Atypical presentation of a genetic disorder
Exhausted currently available genetic testing
The RareVision Test
Our approach combines state-of-the-art bioinformatic curation tools with our in-house clinical expertise to provide timely, accurate, and clinically meaningful insights into rare diseases.
Variant calling
(germline comparison to reference genomes)
Single nucleotide variation/INDEL
Structural variations
Copy number variations
Transposable elements
Annotation of identified variants
Aligned with ClinVar/ClinGen recommendations
Filtering
From millions of variants, significant ones are identified based on their quality and population data
AI-empowered variant interpretation and pathogenicity assessment
Individual clinical characteristics Family history and mode of inheritance
ACMG guideline Medical and Genomics specialists' curation
RareVision
A user-friendly report of medically meaningful insights
Test Name
Sample Requirements
TAT
RareVision
Peripheral blood or buccal swab
10-14 days
How to order a test
Place your order
Please download and fill out our Test Requisition Form and email it to:
