Loeys-Dietz Syndrome Core Panel, Sequencing
Also known as: LDS NGS
Use
The Loeys-Dietz Syndrome Core Panel is utilized for diagnosing Loeys-Dietz syndrome in individuals who meet clinical criteria. It targets pathogenic germline variants primarily in TGFBR1 and TGFBR2, associated with cardiovascular, skeletal, craniofacial, cutaneous, and gastrointestinal manifestations.
Special Instructions
Patients from New York must have their specimens sent to a New York state-approved laboratory. Informed consent is required for genetic testing for New York patients. A patient history form for Aortopathy, Loeys-Dietz, or Marfan Syndrome Testing must accompany the order.
Limitations
The test's limitations include not detecting variants in genes other than TGFBR1 and TGFBR2, missing regulatory region variants and certain insertions/deletions, and a potential reduced sensitivity for larger variants. Low-level mosaic or somatic variants and interpretive challenges from allogeneic stem cell transplants are also noted.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |