Test Overview
The entire targeted gene(s) are sequenced with Illumina sequencing by synthesis (SBS) chemistry, using the Illumina DNA PCR-Free Tagmentation based whole genome sequencing (WGS) library preparation. Sequences are mapped and aligned to genome reference consortium human build 38 (GRCh38, hg38); variants are called by Illumina DRAGEN germline pipeline and analyzed with the assistance of Illumina Emedgene tertiary analysis pipeline. Average depth of coverage is ≥30x. A minimum sequencing depth of 10x is achieved for all coding regions (+/-15 bp). Regions not meeting these depth metrics are further assessed by either Sanger sequencing or manual review. Sequence variants of potential clinical significance, based on the ACMG/AMP guidelines (PMID: 25741868) and ClinGen specifications (clinicalgenome.org/working-groups/sequence-variant-interpretation), are reported. Copy number variation (CNV) of potential clinical significance, based on the ACMG/ClinGen standards (PMID: 31690835), are reported. All reported variants not meeting the quality criteria are confirmed by a different technology.
Sequencing and deletion/duplication reanalysis of NGS targeted genes.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Minimum depth coverage metrics do not apply to regulatory elements or deep intronic regions of the targeted gene(s); thus, variants in those regions may not be detected. Balanced structural variants are generally not analyzed. Furthermore, variants outside of the targeted gene(s) are not analyzed. This analysis may not reliably detect mosaicism or CNV in regions with pseudogene interference. Variant classification reflects the current state of scientific understanding at the time of test completion; when new scientific data are available, the interpretation and classification of variants may change. Test interpretation may be impacted by the presence of a hematologic malignancy or an allogenic bone marrow transplant.
Test Details
28 days
Specimen Requirements
Reanalysis of NGS DATA cannot be ordered unless a previous germline NGS panel was ordered in MMGL: BOPND, BOPN, CCND. Contact the laboratory for additional information.
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Additional Information
Most insurance carriers require prior authorization for genetic testing. Testing will not begin until insurance prior authorization is received by the laboratory or it is confirmed that prior authorization is not required. The ordering health care provider can obtain the prior authorization or request the laboratory to submit it. To obtain BCN prior authorization call Joint Venture Hospital Laboratories (JVHL) at 800-445-4979; for all other insurances, contact the plan directly. By ordering this test the clinician acknowledges that informed consent, https://mlabs.umich.edu/sites/default/files/2023-04/file/germline-conse…, has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.