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Clinical Exome Sequencing

Important Note

This test is under utilization management.  All requests are reviewed for approval by the Clinical Exome Sequencing (CES) Committee.

Clinical System Name

Miscellaneous Test

Synonyms

CES

WES

Description

CES may only be ordered by Seattle Children's providers using the protocol described in the documents referenced below. Clinical exome sequencing (CES) utilizes DNA-enrichment methods and massively parallel nucleotide sequencing to identify protein-coding variants throughout the human genome. The analysis is limited to the DNA sequence of coding regions (exons) and flanking intronic regions of the genome. Mutations that can be identified by this method include missense mutations, nonsense mutations, splice-site mutations, and small deletion or insertion mutations. Clinical exome sequencing is not useful for identifying genetic disorders due to trinucleotide repeats (e.g. fragile X syndrome) or copy number variants and does not include analysis of the non-coding regions of the human genome. In addition to the possible identification of a disease-associated mutation, there is also the possibility of secondary findings (also called incidental results). Due to the complex nature of CES and potential challenges related to the results, a thoughtful testing approach is recommended.

Sample Requirements

Preferred Specimen: Whole Blood

Container: Lavender top (EDTA)

Preferred Vol: 5 mL

Minimum Vol: 2 mL

 

Alternative Specimen: Oral Rinse (30-40 mL)|Buccal Swab


Note: Extracted DNA is accceptable. Please contact the Lab Genetic Counselor (LabGC@seattlechildrens.org) for discussion prior to submiting a request for this sample type.

 

Processing Instructions

Reject due to:

Spin: No.

Aliquot:

Temp: Room temperature M-F daytime.  Refrigerate when Send-outs staff is gone.

Storage location: Send-outs rack.

 

Off-site collection:  Send whole blood refrigerated.

Stability

Room temp 3 d
Refrigerated 7 d
Frozen N

 

Availability

STAT TAT
No 8-12w

 

Performing Laboratory

GeneDx

 

 

Department

Send-outs Department: (206)-987-2563

 

Performing Laboratories:

GeneDx

207 Perry Parkway

Gaithersburg, MD 20877

(301)519-2100

 

 

Reference Range

Interpretive report is provided.
 

Methodology

Exome Capture and Next Generation Sequencing

Special Instructions

Clinical exome sequencing (CES) requires review by the Clinical Exome Sequencing Committee.  To submit a request for review, complete the CES Request Form.  Please contact LabGC@seattlechildrens.org to obtain additional details regarding the request & approval process.

Send Out Instructions

Reference Test Name:

XomeDx - Whole Exome Sequencing (Trio)

Reference Test Number: 561a
Instructions: GeneDx accepts Saturday delivery. Whole blood specimens may be stored refrigerated for up to 7 days prior to shipping. Ship overnight via FedEx M - F, ambient temperature.