Invitae Hereditary Myelodysplastic Syndrome/Leukemia Panel
Use
The Invitae Hereditary Myelodysplastic Syndrome/Leukemia Panel analyzes genes associated with hereditary susceptibility to hematologic cancers, including myelodysplasia and acute leukemia. Genetic testing can confirm a clinical diagnosis, predict disease prognosis, facilitate early detection of symptoms, inform family planning, and encourage enrollment in clinical trials. This test is specifically for heritable germline mutations and not for somatic mutations.
Special Instructions
For patients who have undergone bone marrow or stem cell transplant, or have circulating tumor cells, testing of samples not derived from blood (e.g., cultured fibroblasts from skin biopsy) is recommended. Detailed guidelines can be found on the Specimen Requirements page, or by contacting the Clinical team.
Limitations
This panel does not detect somatic mutations. The test is not suitable for detecting structural rearrangements like inversions or translocations. The sequencing does not cover promoter and some non-coding regions unless specified. The analysis might not resolve details such as mosaicism or phasing. Certain single-exon copy number events might not be analyzed.
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)