Invitae Telomere Biology Disorders Panel
Use
The Invitae Telomere Biology Disorders Panel analyzes genes associated with abnormal telomere maintenance. These genes may present clinical features such as dysplastic nails, lacy reticular pigmentation, oral leukoplakia, bone marrow failure, hematologic malignancy, squamous cell carcinoma, pulmonary fibrosis, melanoma, sarcoma, and brain tumors. Genetic testing can help confirm a clinical diagnosis, predict disease prognosis, facilitate early detection, inform family planning, and potentially enroll patients in clinical trials.
Special Instructions
Not suitable for detecting somatic mutations. If the patient has undergone a bone marrow transplant or has circulating tumor cells, a non-blood specimen such as cultured fibroblasts from a skin biopsy should be used. For specimen selection questions, contact the clinical team.
Limitations
The test uses next-generation sequencing to analyze clinically important regions of genes, including coding exons and adjacent intronic sequences. It may not detect structural rearrangements, variants in non-coding regions, or events affected by complex sequence properties. Variants such as inversions or translocations may not be detected. In rare cases, single-exon copy number events may not be analyzed due to low data quality.
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)