Diagnosis made possible with Whole Genome Sequencing

Whole Genome Sequencing (WGS) is a comprehensive test that covers up to 98% of the whole human genome.

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, 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.

Test Code	1822
Specimen Types
Consent	REQUIRED
Parents Needed	REQUIRED
Parental Report Included
TAT (weeks)	5 Days
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 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

Positive Results

Positive or “abnormal” results mean there is a genetic change related to the patient’s medical issues. Positive results can come in the form of the following genetic changes:

Related to the Patient’s Indications

Single nucleotide variants/indels
Copy number variants (CNV)
- Structural variants (SV)
- Absence of Heterozygosity (AOH)

Unrelated to the Patient’s Indications (Opt-in only)

Carrier findings
- Disorders recommended by the ACMG & ACOG
Incidental findings
- Incidental findings recommended by the ACMG

Negative Results

A genetic change related to the patient’s issues was not detected using this test. This does not guarantee that the patient is free from genetic disorders.

Results of Unclear Significance

WGS can detect change(s) in DNA that do not have a clear meaning known as a variant of uncertain significance (VUS). Every person has changes in their DNA; not all these changes cause medical issues. Studies of family members may help resolve the uncertainty.

Incidental Findings

WGS can sometimes detect a change in a person’s DNA unrelated to the reason for the sample being sent for testing. If this change is medically significant, it is called an incidental finding. Possible incidental findings include mutations that increase a person’s risk for cancer or heart disease. It is optional to receive results on incidental findings. Information regarding adult-onset dementia syndromes, such as Alzheimer’s disease, or other adult-onset neurological conditions will not be reported

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

Positive Results

Positive or “abnormal” results mean there is a genetic change related to the patient’s medical issues. Positive results can come in the form of the following genetic changes:

Related to the Patient’s Indications

Single nucleotide variants/indels
Copy number variants (CNV)
- Structural variants (SV)
- Absence of Heterozygosity (AOH)

Unrelated to the Patient’s Indications (Opt-in only)

Carrier findings
- Disorders recommended by the ACMG & ACOG
Incidental findings
- Incidental findings recommended by the ACMG

Negative Results

A genetic change related to the patient’s issues was not detected using this test. This does not guarantee that the patient is free from genetic disorders.

Results of Unclear Significance

WGS can detect change(s) in DNA that do not have a clear meaning known as a variant of uncertain significance (VUS). Every person has changes in their DNA; not all these changes cause medical issues. Studies of family members may help resolve the uncertainty.

Incidental Findings

WGS can sometimes detect a change in a person’s DNA unrelated to the reason for the sample being sent for testing. If this change is medically significant, it is called an incidental finding. Possible incidental findings include mutations that increase a person’s risk for cancer or heart disease. It is optional to receive results on incidental findings. Information regarding adult-onset dementia syndromes, such as Alzheimer’s disease, or other adult-onset neurological conditions will not be reported

Take the first step with WGS

PRODUCT OVERVIEW

REQUISITION

SAMPLE TYPE	REQUIREMENTS	SHIPPING CONDITIONS
Blood	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.
Cultured Cell Lines	Send two 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.
DNA (Extracted)	At 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.

SAMPLE TYPE

REQUIREMENTS

SHIPPING CONDITIONS

Blood

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.

Cultured Cell Lines

Send two 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.

DNA (Extracted)

At 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.