Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies
Use
This test is useful for evaluating patients with a personal or family history that suggests hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD). Establishing a diagnosis of HLRCC or FHD through this test allows for targeted surveillance based on associated risks. It is also significant for identifying genetic variants that increase risk for HLRCC syndrome, enabling predictive testing of at-risk family members.
Special Instructions
Prior hematopoietic stem cell transplant from an allogeneic donor will interfere with testing. For queries regarding patients who have received a stem cell transplant, contact provided hotline. Informed consent is required for New York clients, and the document should be on file. Specific preparation is required based on specimen type (e.g., saliva collection).
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur, especially in regions of homology, high GC content, or repetitive sequences. Depth of coverage may vary, and assay performance below criteria will be noted in the report. Technical limitations include reduced detection capacity for certain deletion-insertions and ability to sequence through regions with complex genomic structures. Misinterpretation of results without complete clinical information is a risk.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 101382-0
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in the original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |