Ordering Recommendations

Submission of control samples from the patient’s parents, or other similarly affected family members, is helpful to aid in result interpretation.

Performed

Weekly

Methodology

Next Generation Sequencing (NGS)

Reported

Routine: 16 days from receipt of specimen

Synonyms

  • Whole Exome Sequencing
  • Parental Control, Blood
  • Next Generation Sequencing (NGS)
  • Mendelian Disorder
  • MEXP
  • Inherited Disease
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 16 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on

Specimen Type

Blood

Specimen Volume

5 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     

Reference Interval

The reference interval for the whole exome and panel tests are defined as the DNA sequence corresponding to those regions targeted by the assay as listed in the Genome Reference Consortium Human build 37 (GRCh37).

Interpretive Data

Refer to report for result specific interpretation details.

The Whole Exome Sequencing test is a next generation sequencing assay (NGS) which evaluates all protein coding exons in the genome for the presence of pathogenic variants related to the patient’s medical condition. Whole exome sequencing may be used to determine the diagnosis when a Mendelian genetic condition is suspected. The entire exome, including all known nuclear genes (>18,000 genes, approximately 1-2% of the human genome) is analyzed to identify a potential causative variant(s). Submission of control samples from the patient’s parents, or other similarly affected family members, is helpful to aid in result interpretation. Parental control specimens are only used to aid interpretation for the patient and full analysis of the control specimen is not conducted.

Consent for genetic testing is recommended.

This test may also return results for “secondary findings” as defined by the American College of Medical Genetics and Genomics (ACMG) for several inherited conditions that increase the risk for developing cancer, cardiovascular issues, metabolic disorders, problems with anesthesia, eye diseases, and other conditions where monitoring or early treatment may be available. These secondary findings are included in the report unless the patient opts out of these findings on the genetic testing consent form. Parental control samples will also receive secondary findings unless opted out on the genetic testing consent form.

The resulting genomic profile can be used to provide molecular confirmation of a clinical diagnosis in a symptomatic person and/or assist with risk assessment of relatives of an affected individual.
Ordering

Ordering Recommendations

Submission of control samples from the patient’s parents, or other similarly affected family members, is helpful to aid in result interpretation.

Performed

Weekly

Methodology

Next Generation Sequencing (NGS)

Reported

Routine: 16 days from receipt of specimen

Synonyms

  • Whole Exome Sequencing
  • Parental Control, Blood
  • Next Generation Sequencing (NGS)
  • Mendelian Disorder
  • MEXP
  • Inherited Disease
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 16 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on
Collection

Specimen Type

Blood

Specimen Volume

5 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     
Result Interpretation

Reference Interval

The reference interval for the whole exome and panel tests are defined as the DNA sequence corresponding to those regions targeted by the assay as listed in the Genome Reference Consortium Human build 37 (GRCh37).

Interpretive Data

Refer to report for result specific interpretation details.

The Whole Exome Sequencing test is a next generation sequencing assay (NGS) which evaluates all protein coding exons in the genome for the presence of pathogenic variants related to the patient’s medical condition. Whole exome sequencing may be used to determine the diagnosis when a Mendelian genetic condition is suspected. The entire exome, including all known nuclear genes (>18,000 genes, approximately 1-2% of the human genome) is analyzed to identify a potential causative variant(s). Submission of control samples from the patient’s parents, or other similarly affected family members, is helpful to aid in result interpretation. Parental control specimens are only used to aid interpretation for the patient and full analysis of the control specimen is not conducted.

Consent for genetic testing is recommended.

This test may also return results for “secondary findings” as defined by the American College of Medical Genetics and Genomics (ACMG) for several inherited conditions that increase the risk for developing cancer, cardiovascular issues, metabolic disorders, problems with anesthesia, eye diseases, and other conditions where monitoring or early treatment may be available. These secondary findings are included in the report unless the patient opts out of these findings on the genetic testing consent form. Parental control samples will also receive secondary findings unless opted out on the genetic testing consent form.

The resulting genomic profile can be used to provide molecular confirmation of a clinical diagnosis in a symptomatic person and/or assist with risk assessment of relatives of an affected individual.

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