Home
HelpTest Code LAB11019 GDX Xpress Exome Sequencing
Additional Codes
RPD WES
Rapid Exome
Clinical System Name
GDX Xpress Exome Sequencing
Description
Rapid 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: 6.0 mL
Minimum Vol: 3.0 mL
- Note: 1.0 mL is acceptable for infants if a higher volume is not possible.
Specimen: Extracted DNA
Container(s): Sterile Plastic Tube
Preferred Vol: 5 µg at a concentration of ≥50 ng/µL AND a volume of ≥100 µL
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 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 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 exons ± mitochondrial genome
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: |
XomeDxXpress |
| Reference Lab Test Code: | |
| 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. |