Diagnosis

OGM-Dx Prenatal Whole Genome SV utilizes optical genome mapping (OGM), a technique that provides genome-wide assessment of all classes of SVs, including: aneuploidies, large and small copy number variants, balanced and unbalanced rearrangements including insertions, inversions, and translocations. This assay may be indicated for fetuses where a genetic anomaly is … OGM-Dx Prenatal Whole Genome SV utilizes optical genome mapping (OGM), a technique that provides genome-wide assessment of all classes of SVs, including: aneuploidies, large and small copy number variants, balanced and unbalanced rearrangements including insertions, inversions, and translocations. This assay may be indicated for fetuses where a genetic anomaly is suspected, such as abnormal ultrasound or positive non-invasive prenatal screening (NIPS), fetal abnormalities, previous child with chromosomal abnormality, spontaneous fetal demise of unknown origin (any gestational age), and history of recurrent pregnancy loss. View more

The OGM-Dx Prenatal Whole Genome SV test is a laboratory developed test (LDT) performed using the optical genome mapping assay on the Saphyr® system at Bionano Laboratories (6777 Nancy Ridge Drive, San Diego, CA 92121). The OGM technology is based on specific labeling and mapping of ultra-high molecular weight DNA … The OGM-Dx Prenatal Whole Genome SV test is a laboratory developed test (LDT) performed using the optical genome mapping assay on the Saphyr® system at Bionano Laboratories (6777 Nancy Ridge Drive, San Diego, CA 92121). The OGM technology is based on specific labeling and mapping of ultra-high molecular weight DNA in nanochannel arrays and enables the detection of all classes of structural variations (SVs) at a very high resolution. The genome-wide structural variation analysis includes the detection of insertions, deletions, duplications, balanced and unbalanced translocations, inversions, large copy number changes and whole chromosome aneuploidies. View more

Tests performed
Entire test performed in-house

Analytical validation of the OGM-Dx Whole Genome SV Prenatal assay was performed at Bionano Laboratories and included a comprehensive assessment of performance characteristics. Overall accuracy, sensitivity, specificity, positive predictive value, and negative predictive value are >90%.

Optical Genome Mapping cannot detect single-nucleotide variants and does not make any claims related to sequence variants or variants not meeting the thresholds of the test that may have potential functional impacts. This method also cannot detect balanced Robertsonian translocations, triploidy or regions with absence of heterozygosity (AOH). For triploidy … Optical Genome Mapping cannot detect single-nucleotide variants and does not make any claims related to sequence variants or variants not meeting the thresholds of the test that may have potential functional impacts. This method also cannot detect balanced Robertsonian translocations, triploidy or regions with absence of heterozygosity (AOH). For triploidy and AOH determination, a request may be made for additional analysis.  Possible sources of testing error include rare and novel genetic variants that interfere with analysis, sample misidentification, and other sources. NOTE: The interpretation of OGM data is based on our current understanding of the genome. These interpretations may change over time as more information about constitutional disorders and gene-specific phenotype associations become available in the future. View more

Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

Software used to interpret novel variations Help
Medical Literature Review

Laboratory's policy on reporting novel variations Help
Novel variations meeting reporting criteria (including VUS, pathogenic, and likely pathogenic variations) are reviewed and reported per a standard reporting protocol.