Genesavvy Starter Kit

DESCRIPTION

This kit includes:

Saliva DNA collection kit (other collection methods can be requested)
Enhanced Human Whole-Exome Sequencing (WES)
Mitochondrial Whole-Genome Sequencing (mtWGS)
Genetic data harmonized specifically for use with GeneSavvy’s analysis, reporting, and research tools
Downloadable raw genetic data files (By request, we can provide your raw data in standard genetic file formats)
GeneSavvy Variant Exploration Report (see details below)

The Variant Exploration Report that comes with the starter kit includes:

All Genetic Variants found by our Enhanced Human Whole-Exome Sequencing (WES)
All Genetic Variants found by our Mitochondrial Whole-Genome Sequencing (mtWGS)
Genotyping data and SNPs curated for functional medicine practitioners
HLA Subtypes found (Human Leukocyte Antigens)
KIR Subtypes found (Killer-cell Immunoglobulin-like Receptors)
RCCX gene module information
And more**

**We are continuously pioneering new analysis tools to help identify functional genetic patterns between disease-associated rare variants, lifestyle-changing polymorphisms, real-time protein/enzyme activity, and environmental-genetic interactions among other insights. Many of these tools can be used to enhance your GeneSavvy reports by adding additional information to them without the need to collect and process new saliva samples.

Technical Information:

Our testing was designed to sequence the exons and canonical splice sites (+/1,2) of the whole exome
including extra coverage on genes and intron locations associated with medical disorders and treatment options. GeneSavvy has
developed highly advanced protocols to target and extract variants and genetic features in exonic regions, intronic regions
of interest, splice sites, and untranslated gene regions of interest with the following technical
specifications:

45x Depth of Coverage for Target Regions
100x Depth of Coverage for Mitochondrial Regions
Specificity >99%
Sensitivity >96%

Turn Around Time

Our current estimated turn around time is 10-14 weeks from the time we receive your sample. This estimate can vary based on our current testing volume, sample DNA quality, or DNA extraction issues that might happen during the DNA sequencing process. We will provide status updates throughout the process to keep you informed about estimated report delivery date.

Media Downloads

Collection Instructions
Sample Reports (Download)

THE PROCESS

We make it simple.

Investing just a few minutes
can change your health for the better, forever.

Step 1

Order the starter kit (includes the Variant Exploration Report)

Purchase your GeneSavvy Starter Kit. This kit is for the saliva sample collection that goes to our lab so you can extract your genetic data. Then we analyze your genetic data and prepare your GeneSavvy Variant Exploration Report which is full of functional data enrichment so you and your medical team can take action on what we find.

Do you already have raw data from GeneSavvy, or do you have data from another testing company?* If you already have data you can order a Variant Exploration Report or additional custom reports. *Warning: Many genetic tests return less data than our lab. If your data is incomplete, the resulting report will also be incomplete.

Step 2

Provide a saliva sample

When your kit arrives, you’ll fast for 30-40 minutes, spit in the tube, seal it, activate your kit here on the site, and put the sample back in the mail (using the pre-paid shipping label included with the kit). Your hard work is done! Can’t spit in a tube? That’s ok! We can provide options for assisted collection or alternative collection processes! Please contact us for more information.

Step 3

Recieve your data

It takes 10-14 weeks for the lab to recieve and process your genetic data. Once the data is ready, we will email you to let you know how to access your GeneSavvy Variant Exploration report so you can share it with your health team!

Step 4

Work with your health team to take action

The genetic information we provide in our reports can be utilized by you and your health team for many years, in just about all aspects of health! Find functional health professionals that will help you explore these results over time and use these results to continuously make your path to optimal health more personalized to your unique needs.

TECHNICAL INFORMATION

Lab Testing

This test was designed to sequence the exons and canonical splice sites (+/1,2) of the whole exome including extra coverage genes associated with Medical Disorders and treatment options. GeneSavvy has developed highly advanced protocols to target and extract variants in exonic regions, intronic regions of interest, splice sites, and untranslated gene regions of interest with the following technical specifications:

Mean depth of coverage: 100x
Specificity:>98%
Sensitivity: >94%

Insurance CPT Codes

GeneSavvy currently does not work with any insurance payments. However, we do provide any information we can find to help you self-submit to your insurance for potential reimbursement for our tests or services.

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Database

Our reports are built using our proprietary pipeline combined with manual curation to provide the most valuable and actionable results we can find. We utilise the following databases to build actionable results for you.

Gene/Variant Definitions

BUILD: hg19
RefSeq
UCSC
ENSEMBL
GENCODE
dbSNP
Population Frequency
1000 Genomes Project
ExAC
NHLBI-ESP
gnomAD
Complete Genomics

Splice Site Predictions

dbscSNV

Functional Variant Predictions

SIFT
PolyPhen2
LRT
Mutation Taster
Mutation Assessor
FATHMM
PROVEAN
MetaSVM
MetaLR
VEST
MitImpact
regSNP
LoFtool
GeneSavvyDB
M-CAP
CADD
GERP++
DANN
Eigen
GenoCanyon
fitCons
PhyloP
SiPhy
Revel
InterVar
RVIS-ESV
GDI
TMC-SNPDB