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Test Code LAB11015 GDX Xpress Genome Sequencing

Important Note

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

Additional Codes

RPD GENOME

Rapid Genome

Clinical System Name

GDX Xpress Genome Sequencing

Description

Rapid genome 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.

 

Nuclear and mitochondrial genome sequence analyses are 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: 2.0 mL

  • Note: 1.0 mL is acceptable for infants if a higher volume is not possible.

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: 2 - 8 C
  • Buccal 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 or Saliva Room Temp 90 d

 

Availability

STAT TAT
N Verbal result in 7 d, Final report in ~ 2 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 nuclear and mitochondrial genomes

Reference Range

Interpretive report provided.

Clinical Utility

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

Send Out Instructions

Reference Test Name:

GenomeXpress

Reference Lab Test Code:

TH78

Instructions:

GeneDx: 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.