Test Code LAB3896 Genome Sequencing

Important Note

Please refer to GDX Genome Sequencing (LAB11010) for genome sequencing interfaced through Aura at GeneDx. This order (LAB3896) should be used for orders to UW GSTL, GeneDx add-ons and non-interfaced orders only.

This test is only available to Seattle Children's patients and must be ordered in coordination with a genetics provider. Please contact the Laboratory Genetic Counselor team at LabGC@seattlechildrens.org with questions.

Additional Codes

GENOME SEQ

Clinical System Name

Genome Sequencing

Description

Genome sequencing and CNV (copy number variant) analysis to analyze genetic causes of conditions with a high degree of genetic heterogeneity performed at one of two laboratories: University of Washington Genetics and Solid Tumors Lab (UW GSTL) and GeneDx.

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. If ordered through UW GSTL, the mitochondrial genome sequencing and deletion test results are issued in one integrated report. If ordered through GeneDx, 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: 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: Buccal Swab

Alternative Specimen: Saliva (UW GSTL Only)

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp:

Whole Blood: 2 - 8 C

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	Ref Lab Dependent
Extracted DNA	Room temp	3-4 d
	Refrigerated	1 yr
	Frozen	Indefinitely

Availability

STAT	TAT
N	4 weeks

Performing Laboratory

GeneDx

207 Perry Parkway

Gaithersburg, MD 20877

Phone Number: (301) 519-2100

University of Washington Genetics & Solid Tumors Laboratory (UW GSTL)

1959 NE Pacific St

Seattle, WA 98195

Phone Number: (206) 685-1176

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

GeneDx:

Reference Test Name:	GenomeSeqDx
Reference Lab Test Code:	J774a
Instructions:	GeneDx: Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted.

UW GSTL

Reference Test Name:	Genome Sequencing
Reference Lab Test Code:	GNOME
Instructions:	Send Monday through Friday with the UW courier (0700, 1400, or 2200). Attach a Pass Thru label to the temperature-appropriate UW biohazard bag. Write "UW GSTL" in the "To:" field and "SEACOH" in the "From:" field.

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