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Test Code LAB1915 Targeted Gene Variant Sequencing

Important Note

This request is for testing to be performed by Seattle Children's Molecular Genetics Lab only.  Please review the Gene List for appropriate use of this test. If the relative was not tested at Seattle Children’s Laboratory, contact the Laboratory Genetic Counselors (206-987-5400, labgc@seattlechildrens.org) for approval of testing prior to submitting samples.

Clinical System Name

Targeted Gene Variant Sequencing

Description

This test is limited to requests for targeted gene variant sequencing to be performed at Seattle Children's Hospital Molecular Genetics Lab.  For genes covered by SCH Next-Generation Sequencing Panels and Sanger Gene Sequencing see the complete gene list.

 

For targeted mosaic variant testing of genes in the VANseq Vascular Anomalies Sequencing panels, please see VANseq page for specimen requirements and methodology.

 

Please contact the Laboratory Genetic Counselors (206-987-5400, labgc@seattlechildrens.org) if you have questions.  In some cases it is also necessary to provide an additional sample to be used as a positive control from the proband.  For these cases you will be notified.

 

For targeted variant testing to be performed by non-SCH lab, please search Lab Test Catalog by gene.  

Sample Requirements

Specimen: Whole blood

Container(s): Lavender/EDTA

Preferred Vol: 3 mL

Minimum Vol: 1 mL

Note: Heparin samples (Green tops) are unacceptable.

 

Specimen: Saliva collected using Oragene Dx OGD-575/675 collection kit.

Container: Oragene Dx OGD-575/675 collection kit

IMPORTANT NOTE: Manufacturer instructions must be followed. Please review link: How to Collect a Saliva Sample for Genetic Testing (Spanish). Contact the lab directly for more information or to obtain a kit - 206-987-2563, ReferenceLabTeam@seattlechildrens.org.

 

Specimen: Extracted DNA (MUST specify source on requisition)

Preferred: 5µg

Minimum: 2µg

Note: Isolation of nucleic acids for clinical testing must be performed in a CLIA-certified
laboratory or a laboratory meeting equivalent requirements as determined by the CAP
and/or the CMS. DNA concentration minimum 50 µg/mL; 260/280 ratio 1.70-2.00.

Processing Instructions

Reject due to: Heparin

Spin: No

Aliquot: No

Temp: 2 - 8 C

Storage location: Molecular Genetics box in CPA refrigerator #2

Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.

Stability

Specimen Type Temperature Time
Whole blood, extracted DNA RT 3-5 d
Whole blood, extracted DNA 2 - 8 C 7 d

Saliva, extracted from ORAgene Dx OGD-575/675

 room temperature or refrigerated up to 2 weeks
Extracted DNA -20 C or -70 C  years

Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.

Availability

STAT Performed TAT
Contact lab Monday - Friday 4-6 weeks

 

Performing Laboratory

Seattle Children's Laboratory

Department

Department:  Molecular Genetics Laboratory

Phone: 206-987-3872

Lab Client Services: 206-987-2617

Lab Genetic Counselor: LabGC@seattlechildrens.org

CPT Codes

Call or email Lab Client Services, 206-987-2617, labclientservices@seattlechildrens.org, for targeted gene or targeted variant CPT codes.

Methodology

Sanger Sequencing: Bi-directional sequencing of targeted variant region

 

Reference Range

Interpretive report will be provided. 

Requisition

Molecular Genetics