OGM-Dx Postnatal Whole Genome SV
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000613223.1
NERVOUS SYSTEMPSYCHIATRICINHERITED DISEASE ... View more
Last updated in GTR: 2024-05-01
Last annual review date for the lab: 2024-05-02 LinkOut
At a Glance
Diagnosis
Developmental delay; Autism spectrum disorder; Epilepsy; ...
Whole genome structural variants
Cytogenetics - Karyotyping: Optical Genome Mapping
OGM-Dx Postnatal Whole Genome SV utilizes optical genome mapping (OGM), …
Not provided
Not provided
Ordering Information
Offered by: Help
Test short name: Help
OGM-Dx Postnatal
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Lab contact: Help
Jenna Finley, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
jfinley@bionano.com
How to Order: Help
To order, please call 801-931-6200 to discuss the ordering process. The test requisition form can be found on https://bionanolaboratories.com/ogm-dx-postnatal-whole-genome-sv/
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Karyotyping
Optical Genome Mapping
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
OGM-Dx Postnatal Whole Genome SV utilizes optical genome mapping (OGM), a technique that provides genome-wide assessment of all classes of structural variants (SVs), including: aneuploidies, large and small copy number variants, and balanced and unbalanced rearrangements including insertions, inversions, and translocations. This assay may be indicated for individuals who have … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
ACMG guidelines (PMID: 24071793)

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
Technical Information
Test Procedure: Help
The OGM-Dx Postnatal 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 … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical validation of the OGM-Dx Postnatal Whole Genome SV 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%. Repeatability and reproducibility for the assay are 100%, respectively.
Assay limitations: Help
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 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
VUS:
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.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.