Invitae Antley-Bixler Syndrome Test
Use
The Invitae Antley-Bixler Syndrome Test analyzes the POR gene associated with Antley-Bixler Syndrome (ABS). ABS is characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, and joint contractures, as well as genitourinary anomalies and impaired steroidogenesis. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Special Instructions
Ordering requires the collection of a specimen, such as whole blood, saliva, or buccal swab. Alternate specimens are also accepted. For specimen collection kits and further ordering instructions, contact client services. Test customization is available by adding or removing genes.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. In rare situations, single-exon copy number events may not be analyzed due to sequence properties or data quality. Certain types of variants, like structural rearrangements and complex sequences, may not be detected. Sequence changes in promoter, non-coding exons, and other non-coding regions are not covered unless explicitly guaranteed. Additionally, mosaicism, phasing, or mapping ambiguity may not be fully resolved.
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)