One test, more answers with Whole Exome Sequencing

When a patient’s medical history and physical exam strongly suggests an underlying genetic cause, we recommend Whole Exome Sequencing.

Whole exome sequencing (WES) is available to patients who are searching for a unifying diagnosis for multiple medical issues. Unlike older technology where only one gene could be tested at a time, Baylor Genetics uses state-of-the-art technology to study a person’s exome. The exome refers to all our exons, which are the important protein-coding sections of DNA that are contained in our genes. The majority of DNA changes that may cause a genetic disorder are found in exons.

Scientists know what the sentences should say. Sequencing is a technology that looks at each letter in every sentence of DNA in the exome allowing scientists to compare the DNA of a person who has medical issues to the DNA from a person without medical issues. WES simultaneously looks at thousands of portions of genetic material at the same time. However, this technology cannot see all genetic changes that may lead to genetic conditions, which is why additional testing may be recommended. Finding an answer to your patient’s medical condition through whole exome sequencing can be life changing. Results can open options to treatment and additional research opportunities through Baylor College of Medicine.

When a patient’s medical history and physical exam strongly suggests an underlying genetic cause, we recommend Whole Exome Sequencing.

Whole exome sequencing (WES) is available to patients who are searching for a unifying diagnosis for multiple medical issues. Unlike older technology where only one gene could be tested at a time, Baylor Genetics uses state-of-the-art technology to study a person’s exome. The exome refers to all our exons, which are the important protein-coding sections of DNA that are contained in our genes. The majority of DNA changes that may cause a genetic disorder are found in exons.

Scientists know what the sentences should say. Sequencing is a technology that looks at each letter in every sentence of DNA in the exome allowing scientists to compare the DNA of a person who has medical issues to the DNA from a person without medical issues. WES simultaneously looks at thousands of portions of genetic material at the same time. However, this technology cannot see all genetic changes that may lead to genetic conditions, which is why additional testing may be recommended. Finding an answer to your patient’s medical condition through whole exome sequencing can be life changing. Results can open options to treatment and additional research opportunities through Baylor College of Medicine.

Baylor Genetics Exome Diagnosis Rates

The exome diagnosis rate at Baylor Genetics is approximately 30% for proband or trio exome, and approximately 40% for prenatal trio and critical trio exome. Ordering the exome test with a shorter turn-around time can impact health outcomes in a significant way, especially for younger patients.

Indications for Testing:

EXHAUSTED GENETIC TESTING OPTIONS

PATIENTS WITH A LONG LIST OF DIFFERENTIAL DIAGNOSES

ATYPICAL PRESENTATION OF DISEASE

Baylor Genetics Exome Diagnosis Rates

The exome diagnosis rate at Baylor Genetics is approximately 30% for proband or trio exome, and approximately 40% for prenatal trio and critical trio exome. Ordering the exome test with a shorter turn-around time can impact health outcomes in a significant way, especially for younger patients.

Indications for Testing

EXHAUSTED GENETIC TESTING OPTIONS

PATIENTS WITH A LONG LIST OF DIFFERENTIAL DIAGNOSES

ATYPICAL PRESENTATION OF DISEASE

PROBAND
WES

BLUEPRINT CUSTOM PANEL

TOTAL BLUEPRINT PANEL

TRIO
WES

CRITICAL TRIO WES

ADULT SCREENING EXOME

Test Code

1500

1300

1390

1600

1722

1605

Consent

REQUIRED

MD ONLY

REQUIRED

REQUIRED

REQUIRED

REQUIRED

Parents Needed

or
RECOMMENDED
or
RECOMMENDED
or
RECOMMENDED

REQUIRED

REQUIRED
or
RECOMMENDED

Parental Report Included

TAT (weeks)

10

6

8

6

5 Days

10

Can Elect to Receive Incidental Finding

Standard Reporting

Raw Data Available

Consent Available in Other Language

  • null
    Saliva
  • null
    Blood

All it takes is one test to get more answers

Specimen Requirements
SAMPLE TYPE REQUIREMENTS SHIPPING CONDITIONS

Blood

Draw blood in an EDTA (purple-top) tube(s). Send at least 5cc (children) or 10cc (adults).

Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. The sample must arrive within 7 days.

Buccal Swab

Collect with ORAcollect•Dx (OCD-100) self-collection kit (provided by Baylor Genetics with instructions). We highly recommend the sample be collected by a healthcare professional.

Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Cultured Skin Fibroblast

Send 2 T25 flasks at 80-100% confluence.

Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. The sample must arrive within 7 days.

Purified DNA

Send at least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).

Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. The sample must arrive within 7 days.

How It Works:

Order appropriate testing for your patient.

The patient’s sample is collected.

The patient’s sample is sent to Baylor Genetics.

Results are sent to the physician.

Discuss the results with the patient.

More questions? Please contact us by calling 1.800.411.4363.

Vice President, Clinical Genomics
Sr. Division Director, NGS/Molecular/CGI
Genetic Counselor

Ready to work together? Contact us today.

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