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Shortening the rare disease diagnostic odyssey with precision technology
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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
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Genome wide coverage: <0.1%
No copy number variations
No structural variations
Whole Exome
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Genome wide coverage: 1 - 2%
Inaccurate copy number variations
No structural variations
Whole Genome
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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)
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Single nucleotide variation/INDEL
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Copy number
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Annotation of identified variants
Aligned with ClinVar/ClinGen recommendations
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


A user-friendly report of medically meaningful insights
Test Name
Sample Requirements
RareVisionPeripheral 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:

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RareVision specimen kit
RareVision requires peripheral blood or buccal swab. Please see Sample Collection Form.
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Ship sample
Ship samples in the supplied RareVision specimen kits.
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Access test results
Most RareVision reports are available within four weeks. You can access the results through the online provider portal or receive the report by fax.
All RareVision samples are currently only processed in the Genome Insight Korea-based laboratory.
San Diego HQ
6330 Nancy Ridge Drive,
Suite 106,
San Diego, CA 92121
Seoul R&D
Hyobong Bldg. 4F, 
20 Seoun-ro, 
Seocho-gu, Seoul, 
South Korea 06734
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Daejeon R&D
Munji Campus T331
193 Munji-ro
Yuseong-gu, Daejeon
South Korea 34051
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Hong Kong
RD11, 133 Wai Yip Street
Kwun Tong,
Hong Kong
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