Inherited Spastic Paraplegia Gene Panel, Varies
Use
This test is useful for establishing a molecular diagnosis for patients with hereditary spastic paraplegia. It identifies variants within 128 genes known to be associated with hereditary spastic paraplegia, allowing for predictive testing of at-risk family members. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hereditary spastic paraplegia.
Special Instructions
Informed consent is required for New York clients. Documentation must be on file as indicated in the request form or electronic order. Customization of this panel and single gene analysis for any gene present on this panel are available. For detailed information, see the Targeted Genes and Methodology Details document related to this test.
Limitations
Next-generation sequencing may not detect all types of genomic variants and has technical limitations in regions of homology, high GC content, and repetitive sequences. In some cases, false-negative or false-positive results may occur. Deletion and duplication analysis may not achieve single exon resolution due to isolated reduction in sequence coverage or inherent genomic complexity. Deletions-insertions of 40 or more bp, including mobile element insertions, may be less reliably detected than smaller delins. Results may be affected by recent blood transfusions or bone marrow transplants due to the presence of donor DNA.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103730-8
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
21-35 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 original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |