This specimen should be collected from the mother of the patient for whom Whole Exome Sequencing - DUO (Proband)  or Whole Exome Sequencing - TRIO (Proband)  is being ordered. The test to be ordered for the mother is Whole Exome Sequencing Comparator - Mother .
2 - 4 weeks
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
For more information, please view the literature below. These forms are required to submit for whole exome sequencing.
Whole blood, oral swab, extracted DNA
4 mL, 1 swab, or 200 ng of DNA
Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only, extracted DNA
Blood: ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze. Swab: 60 day post-collection room temperature; DNA: ship at room temperature after extraction.
• Room temperature: Blood: 5 days; Swab: 60 days; DNA: 30 days
• Refrigerated: Blood: 5 days; Swab: 60 days; DNA: 30 days
• Frozen: Blood: Do not freeze; Swab: 60 days; DNA: Indefinitely
Frozen blood EDTA tube; insufficient swab cell collection or incorrect oral swab device use; extracted DNA A260:A280 ratio outside of 1.8-2.0 range
Whole exome sequencing (WES) is a genetic test used to identify a hertiable cause of disorder. This test should be used in cases of WES DUO or TRIO sequencing where the mother can be used as a comparator to inform the diagnosis of the proband.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Whole Exome Sequencing
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|620192||Whole Exome Seq - Mother||620181||Preauthorization||N/A|
|620192||Whole Exome Seq - Mother||620193||Result||86205-2|
|620192||Whole Exome Seq - Mother||630859||80563-0|
© 2021 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.
The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf