SEPTIN9 Gene, Full Gene Analysis, Varies
Use
This test is useful for establishing a molecular diagnosis for patients with hereditary neuralgic amyotrophy. It identifies variants within the SEPTIN9 gene associated with hereditary neuralgic amyotrophy, 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 neuralgic neuropathy.
Special Instructions
Additional tests may be added based on the specimen type received. For skin biopsy specimens, a fibroblast culture will be added at an additional charge. For prenatal specimens such as chorionic villi or amniotic fluid, maternal cell contamination testing and cultures will be performed at additional charges. If the specimen is received postnatal from an umbilical cord, maternal cell contamination studies are recommended. Informed consent is required for New York clients.
Limitations
Next-generation sequencing may not detect all types of genomic variants, with potential false-negative or false-positive results. The depth of coverage may be variable for some target regions, and regions of genes with homology, high GC content, or repetitive sequences may be challenging to evaluate. This test may not detect low levels of mosaicism or differentiate between somatic and germline variants. It is not designed to detect certain types of deletions or duplications extending past included genes.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 77067-7
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
28-42 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), acceptable: Green top (Sodium heparin)
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 acceptable. See Additional Information.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |