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Test Code LAB11013 GDX Exome Sequencing

Important Note

This test is only orderable for Seattle Children's Genetic Medicine Division providers in EPIC. Please answer all required order questions carefully. A paper requisition is not required for this order.

Clinical System Name

GDX Exome Sequencing

Synonyms

Exome; WES; Whole Exome; Whole Exome Sequencing

Description

Exome sequencing and CNV (copy number variant) analysis to analyze genetic causes of conditions with a high degree of genetic heterogeneity performed at GeneDx via the Aura interface.

 

Concurrent mitochondrial genome sequencing and deletion testing can be ordered. Nuclear exome sequence analysis is performed on the affected individual (i.e., the proband) and, when submitted together for analysis, biological parental samples, and/or additional biological relatives as needed. Standardly, a report is issued only for the proband. Mitochondrial genome sequencing and deletion test results are issued in a separate report.

Sample Requirements

Preferred Specimen: Whole Blood

Container: Lavender top (EDTA)

Preferred Vol: 5.0 mL

Minimum Vol: 3.0 mL

  • 1.0 mL may be acceptable for infants. Please contact Send Outs at ext. 7-2563 for confirmation of 1.0 mL minimum volume.

 

Alternative Specimen(s): GeneDx can send genetic testing collection kits directly to the family's home address. Please use the EPIC order questions to indicate if  kits should be shipped to the family. You DO NOT need to place a seperate "Genetic Test Kit Request" order in EPIC. Please contact Send Outs at referencelabteam@seattlechildrens.org or call us at ext. 7-2563 for additional questions regarding alternative specimen acceptibility.

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp:

  • Whole Blood or Extracted DNA: 2 - 8 C
  • Buccal Swabs or Saliva Swabs: RT

Storage Location:

  • CPA refrigerator, Send Outs rack.
  • Send Outs room temperature rack.

Off-Site Collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole Blood Room Temp 3 d
  Refrigerated 7 d
  Frozen Unacceptable
Buccal Swabs Room Temp 90 days

 

Availability

STAT TAT
N 5 - 7 w

Performing Laboratory

GeneDx

207 Perry Parkway

Gaithersburg, MD 20877

Phone Number: (301) 519-2100

Department

Department: Send Outs/Genetic

Phone Number: (206) 987-2563

Methodology

Next-generation sequencing with CNV calling of exons ± mitochondrial genome

Reference Range

Interpretive report provided.

Resources

Reference Lab Test Page

Test Information Sheet

Clinical Utility

A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.

Send Out Instructions

Reference Lab Test Name:

XomeDx (GeneDx)
Reference Lab Test Code:

XomeDx:

  • 561b (Proband w/o mtDNA)
  • 561e (Duo w/o mtDNA)
  • 561a (Trio w/o mtDNA)

XomeDx Plus
Send-out Instructions:

This test is interfaced through GeneDx Aura in EPIC. Add specimens to GeneDx pakcing list to trigger order communication to GeneDx. Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted.