Invitae Adams-Oliver Syndrome Panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000597555.1
NYS CLEP
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2022-07-15
Last annual review date for the lab: 2023-10-10 LinkOut
At a Glance
Diagnosis; Recurrence; Risk Assessment
Adams-Oliver syndrome 1; Adams-Oliver syndrome 2; Adams-Oliver syndrome 3; ...
Genes (8): Help
ARHGAP31 (3q13.32-13.33), DLL4 (15q15.1), DOCK6 (19p13.2), EOGT (3p14.1), KCTD1 (18q11.2), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
The Invitae Adams-Oliver Syndrome Panel analyzes genes that are associated …
Not provided
Not provided
Ordering Information
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Registered Nurse
Test Order Code: Help
434342
How to Order: Help
Tests can be ordered online or by submitting a paper requisition form.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 8
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Recurrence; Risk Assessment
Target population: Help
The Invitae Adams-Oliver Syndrome Panel analyzes genes that are associated with Adams-Oliver syndrome, scalp-ear-nipple syndrome, and Johanson-Blizzard syndrome, which are characterized by cutis aplasia of the scalp and various other abnormalities including limb defects and/or congenital heart defects. These genes were selected based on the available evidence to date to … View more
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the … View more

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

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations: Help
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 8884
Status: Approved
Additional Information

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