Invitae Adams-Oliver Syndrome Panel
Use
The Invitae Adams-Oliver Syndrome Panel analyzes genes associated with Adams-Oliver syndrome, scalp-ear-nipple syndrome, and Johanson-Blizzard syndrome. These conditions are characterized by cutis aplasia of the scalp, limb defects, and/or congenital heart defects. The panel provides a broad genetic analysis to confirm diagnoses and assist in treatment decisions. Genetic testing may also aid in recurrence-risk assessment and genetic counseling. Identification of causal variants helps improve understanding and management of these conditions.
Special Instructions
It is possible to customize this test by selecting specific genes to be removed from the analysis. Preferred specimen collection is a 3mL whole blood sample in a purple-top EDTA tube. Alternate specimens such as saliva, buccal swab, and gDNA are accepted. Specimen collection kits can be requested from Invitae.
Limitations
The assay identifies variants including single nucleotide variants, small insertions/deletions, and exon-level copy number changes. However, some structural variants, complex arrangements, or sequences with inherent characteristics may not be detected. Additionally, single nucleotide data changes, mosaic states, or phasing issues might not be resolved. Analysis does not cover all non-coding, promoter, or uncharacterized regions unless explicitly mentioned. In some cases, the DNA may not reflect the patient’s genome due to external factors.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
Purple-top EDTA tube (K2EDTA or K3EDTA)