Invitae Cerebrotendinous Xanthomatosis Test
Use
The Invitae Cerebrotendinous Xanthomatosis Test analyzes the CYP27A1 gene. Pathogenic variants in CYP27A1 lead to cerebrotendinous xanthomatosis (CTX), a lipid-storage disease that manifests through symptoms such as infant/childhood-onset diarrhea, bilateral cataracts, tendon xanthomas, and progressive neurological abnormalities including pyramidal symptoms and cerebellar ataxia. Genetic testing can confirm a diagnosis, guide management decisions, and provide risk assessment and carrier status for at-risk relatives.
Special Instructions
The test is suitable for any individual in whom cerebrotendinous xanthomatosis is suspected based on clinical or laboratory findings. Adequate early diagnosis and replacement therapy with chenodeoxycholic acid may prevent clinical deterioration.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, as well as exon-level deletions and duplications. In rare cases, single-exon copy number events may not be analyzed due to sequence properties or data quality issues. Structural rearrangements or variants in complex architectures may not be detected. Sequence changes in non-coding regions are not covered unless explicitly guaranteed. Sequence analysis covers coding exons and adjacent intronic regions, with certain non-coding variants included.
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)