Whole Exome Sequencing - Proband Only

Whole blood, oral swab, extracted DNA

Whole blood; oral swab or extracted DNA (from blood or oral swab only)

4 mL, 1 swab, or 200 ng of DNA

Whole blood: 4 mL; oral swab: 3 swabs; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only, extracted DNA

Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

• 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

• Room temperature: whole blood: 14 days; swab: 60 days

• Refrigerated: whole blood: 30 days; swab: 60 days

• Frozen: do not freeze

Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified; thus, it has a higher chance to find the cause of a heritable disease. WES can be used if a patient has symptoms, which, after exhaustive testing, cannot be linked to a diagnosis and corrective treatment is necessary to change the prognosis. WES can also be used if, upon clinical presentation, multiple disease states may be suspected and a clinician wishes to improve his/her testing approach. Once a genetic variant has been identified, this information can then be linked back to the phenotype of the patient, which will improve the pathway to a correct diagnosis and a suitable treatment plan can be administered. Proband Only testing is exome sequencing for the patient only. Proband-only samples are acceptable when parental or other family member samples are not available.

Diagnostic testing

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.<>

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

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.

Whole Exome Sequencing

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs)