Whole Genome Sequencing (WGS) is a comprehensive test that covers up to 98% of the whole human genome.
Advancements in next-generation sequencing technology are poised to revolutionize diagnostic testing by the introduction of Whole Genome Sequencing (WGS). Your patient and family may have spent years undergoing multiple genetic testing without avail, which is why WGS may be the perfect test to potentially end their diagnostic odyssey. Alternatively, you may be managing a new patient or newborn with complex medical issues for whom a comprehensive approach would be the appropriate first-line test.
WGS is a powerful tool for detecting known and potential disease-causing variations. While other traditional genetic tests, such as whole exome sequencing and chromosomal microarray analysis, impart only particular changes in a patient’s DNA, WGS is advantageous as a single test to detect variants that may not be amenable to current genetic testing.
WGS can capture virtually all disease-causing genetic variations including single-nucleotide variants, small insertion/deletions, copy number variants, absence of heterozygosity (AOH), mitochondrial variants, and trinucleotide repeats. WGS has multiple applications ranging from being an effective diagnostic strategy for the clinical diagnosis of genetic and inherited disorders to treatment planning and pharmacogenomic uses.
The exome accounts for only 1 – 2% of the whole genome making WGS the most comprehensive test for your patient.
Advancements in next-generation sequencing technology are poised to revolutionize diagnostic testing by the introduction of Whole Genome Sequencing (WGS). Your patient and family may have spent years undergoing multiple genetic testing without avail, which is why WGS may be the perfect test to potentially end their diagnostic odyssey. Alternatively, you may be managing a new patient or newborn with complex medical issues for whom a comprehensive approach would be the appropriate first-line test.
WGS is a powerful tool for detecting known and potential disease-causing variations. While other traditional genetic tests, such as whole exome sequencing and
chromosomal microarray analysis, impart only particular changes in a patient’s DNA, WGS is advantageous as a single test to detect variants that may not be amenable to current genetic testing.
WGS can capture virtually all disease-causing genetic variations including single-nucleotide variants, small insertion/deletions, and copy number variants. WGS has multiple applications ranging from being an effective diagnostic strategy for the clinical diagnosis of genetic and inherited disorders to treatment planning and pharmacogenomic uses.
| Rapid Trio WGS | Rapid Duo WGS | Rapid Proband WGS | |
| Test Code | 1822 | 1823 | 1829 |
| Consent | REQUIRED | REQUIRED | REQUIRED |
| Parents Needed |
REQUIRED |
REQUIRED | NOT REQUIRED |
| Parental Report Included |
|
| NOT INCLUDED |
| TAT (days) | 7 | 7 | 7 |
| Can Elect to Receive Incidental Finding(s) |
|
|
|
| Raw Data Available |
|
|
|
Indications for Testing
MULTIPLE CONGENITAL ANOMALIES
AUTISM SPECTRUM DISORDERS
NEURODEVELOPMENTAL DISORDERS
DEVELOPMENTAL DELAY
INTELLECTUAL DISABILITY
FAILURE TO THRIVE
DYSMORPHIC FEATURES
EPILEPSY SYNDROMES
PATIENTS WITH AN EXTENSIVE
DIFFERENTIAL DIAGNOSIS
|
| Trio WGS | Duo WGS | Proband WGS |
| Test Code | 1800 | 1803 | 1810 |
| Consent | REQUIRED | REQUIRED | REQUIRED |
| Parents Needed |
REQUIRED |
REQUIRED | NOT REQUIRED |
| Parental Report Included |
|
|  |
| TAT (weeks) | 8 – 10 | 8 – 10 | 8 – 10 |
| Can Elect to Receive Incidental Finding(s) |
|
|
|
| Raw Data Available |
|
|
|
Indications for Testing
MULTIPLE CONGENITAL ANOMALIES
AUTISM SPECTRUM DISORDERS
NEURODEVELOPMENTAL DISORDERS
DEVELOPMENTAL DELAY
INTELLECTUAL DISABILITY
FAILURE TO THRIVE
DYSMORPHIC FEATURES
EPILEPSY SYNDROMES
PATIENTS WITH AN EXTENSIVE
DIFFERENTIAL DIAGNOSIS
| Test Code | 1800 |
| Specimen Types |    |
| Consent | REQUIRED |
| Parents Needed |
REQUIRED |
| Parental Report Included |
|
| TAT (weeks) | 8 – 10 |
| Can Elect to Receive Carrier Finding(s) |
|
| Can Elect to Receive Incidental Finding(s) |
|
| Raw Data Available |
|
Indications for Testing
MULTIPLE CONGENITAL ANOMALIES
AUTISM SPECTRUM DISORDERS
NEURODEVELOPMENTAL DISORDERS
DEVELOPMENTAL DELAY
INTELLECTUAL DISABILITY
FAILURE TO THRIVE
DYSMORPHIC FEATURES
EPILEPSY SYNDROMES
PATIENTS WITH AN EXTENSIVE
DIFFERENTIAL DIAGNOSIS
Take the first step with WGS
Specimen Requirements
Extracted DNA
| SAMPLE TYPE | REQUIREMENTS | SHIPPING CONDITIONS |
|---|---|---|
|
| 3-5 cc (2 yrs-adult), 2-3 cc (newborn-2 yrs) in EDTA(purple-top) tube (molecular testing). Attach clinical notes and concurrent laboratory reports. | Ship at room or refrigerated temperature in an insulated container by overnight courier. Do not heat or freeze. Specimen should arrive in the laboratory within 24-48 hours of collection. |
|
| 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. Sample must arrive within 72 hrs. |
|
| Send 2 T25 flasks at 80-100% confluence. | Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Cell line specimens should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze. |
|
| Send t least 20 ug with a minimum average concentration of 50 ng/μL. Attach clinical notes and/or concurrent laboratory reports as applicable. Extracted DNA will only be accepted if the isolation of nucleic acids for clinical testing occurs in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS. | Ship at room temperature in an insulated container by overnight courier. May also be shipped frozen on a minimum of 10 lbs of dry ice in an insulated container by overnight courier. |
|
| Collect with Oragene DNA Self-Collection Kit. | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
Blood
Buccal Swab
Cultured Skin Fibroblasts
Extracted DNA
Saliva
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.
