Whole Genome Sequencing

Early and actionable health insights using your child's DNA


What is Whole Genome Sequencing for Newborns and Children?

Test performed using a cord blood sample or a saliva sample.

Whole Genome Sequencing for newborns and children is a test that sequences all 22,000 genes in the genome and analyzes the 2,500 genes that have known associations with childhood-onset conditions.


Our Whole Genome Sequencing Test Includes:

+  Analysis of 2,500 genes associated with childhood-onset conditions

+  Includes the analysis of 50+ genes identified as medically actionable by the American College of Medical Genetics (ACMG)

+  Identification of Drug Sensitivities

+  Personalized Results Report  

 Genome Snapshot readily-available for future testing requirements

 Physician & Genetic Counselor Support

 Health Action Plan

 Expert Customer Service

Questions or Ready to Order? We're here to help. Call 866-565-2237


Who Is This Test For?

Our Whole Genome Sequencing test is for healthy newborns and children.


Who Can Request The Whole Genome Sequencing Test?

Parents & Guardians 

When a parent or guardian requests the test, an independent physician from Genome Medical will serve as the ordering physician (at no extra cost).


Physicians 

You may choose to use your own physician to order the test. Your physician will be the only person to receive your results and will pass them along to you.


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Conditions Detected With Whole Genome Sequencing Include:


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Heart Conditions

Aortic Aneurysms | Cardiomyopathies 



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Hereditary Childhood Cancers

Retinoblastoma | Neurofibromatosis | Endocrine Neoplasia 



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Hearing Loss

Sensorineural Hearing Loss 



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Others

Autism Spectrum Disorder | Vision Loss | Lysosomal Storage Disorders 


See the benefits of whole genome sequencing

What Will You Learn From Our Whole Genome Sequencing Test?

The Whole Genome Sequencing test will capture your child’s entire genome and provide analysis for potential disease-causing variants in over 2,500 genes associated with childhood onset conditions, as well as provide insights into medication sensitivity and response. The information from the test will allow your family to make proactive and informed health decisions.


Patients will have the option of choosing from 3 categories: 

1. Genes associated with Childhood Onset Conditions 

2. Medically actionable genes 

3. Pharmacogenomics

 

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Childhood-Onset Conditions

2,500 Genes are known to be associated with childhood-onset conditions. Whole Genome Sequencing can accurately identify whether you are at an increased risk for any of those conditions.


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Medically Actionable Conditions

24 inherited conditions have clinical and management guidelines that may be life saving for affected individuals.


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Drug Sensitivities 

Pharmacogenomics use your genetic map to figure out how you will respond to a medication or certain treatments, for example Warfan (for prevention of heart attacks and strokes) and Citalopram (commonly used to treat depression)


Re-Analysis of Your Genomic Data Available

A Resource For Life

Sequence your whole genome one time and reanalyze it as many times as you wish using the same sample. As knowledge increases, variants are occasionally reclassified. When a variant that was reported as uncertain is now considered actionable (pathogenic/likely pathogenic) or a variation thought to be actionable is now considered uncertain or benign, reanalysis should be performed. 


What Can You Expect With Our Test?


✔    Support from beginning to end

Our Customer Service team is available to assist you every step of the way throughout your genetic testing experience.


✔    Genetic Counselor & Physician Support

A physician is provided to order your test and a Genetic Counselor is provided both before and after testing. Together you and your Genetic Counselor will determine next steps for your child’s health.


✔    Results You Can Trust

Our lab, PerkinElmer Genomics is comprised of experts from across the clinical diagnostic arena, including world-renowned geneticist Dr. Madhuri Hegde, a staff of board-certified geneticists and genetic counselors.

    Data Privacy

Your privacy is paramount to us. We securely store your DNA information and do not share your DNA information with anyone without your permission.




Questions or Ready to Order? We're here to help. Call 866-565-2237







IMPORTANT NOTE: For Research Use Only. Not for use in Diagnostic Procedures. The content shall not be used to make a diagnosis or to replace or overrule a health care provider’s judgement. Always consult with a qualified and licensed physician or other medical care provider.
 
 
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