Test Details
Methodology
Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)
Result Turnaround Time
28 - 42 days
Use
Diagnostic testing
Special Instructions
This specimen should be collected from the father of the patient for whom Whole Exome Sequencing - DUO (Proband) [620023] or Whole Exome Sequencing - TRIO (Proband) [620022] is being ordered. The test to be ordered for the father is Whole Exome Sequencing Comparator - Father [620197].
Specimen Requirements
Limitations
This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Specimen
Whole blood; oral swab or extracted DNA (from blood or oral swab only)
Volume
Whole blood: 4 mL; oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Minimum Volume
Whole blood: 2 mL; oral swab: 1 swab; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Container
Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Collection Instructions
Whole blood: standard phlebotomy; oral swab: follow kit instructions; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Stability Requirements
• Room temperature: whole blood: 14 days; swab: 60 days
• Refrigerated: whole blood: 30 days; swab: 60 days
• Frozen: do not freeze
LOINC® Map
Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
---|---|---|---|---|---|---|
620197 | Whole Exome Seq - Father | 86205-2 | 620181 | Preauthorization | N/A | |
620197 | Whole Exome Seq - Father | 86205-2 | 620198 | Result | 86205-2 | |
620197 | Whole Exome Seq - Father | 86205-2 | 630861 | 80563-0 | ||
Order Code | 620197 | |||||
Order Code Name | Whole Exome Seq - Father | |||||
Order Loinc | 86205-2 | |||||
Result Code | 620181 | |||||
Result Code Name | Preauthorization | |||||
UofM | ||||||
Result LOINC | N/A | |||||
Order Code | 620197 | |||||
Order Code Name | Whole Exome Seq - Father | |||||
Order Loinc | 86205-2 | |||||
Result Code | 620198 | |||||
Result Code Name | Result | |||||
UofM | ||||||
Result LOINC | 86205-2 | |||||
Order Code | 620197 | |||||
Order Code Name | Whole Exome Seq - Father | |||||
Order Loinc | 86205-2 | |||||
Result Code | 630861 | |||||
Result Code Name | ||||||
UofM | ||||||
Result LOINC | 80563-0 |