Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies
Use
This test is crucial for establishing a molecular diagnosis in patients with frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). It identifies genetic variants associated with these conditions, aiding in predictive testing for at-risk family members. Detecting such variants could substantially assist with clinical diagnosis, management, prognosis, and genetic counseling by providing insights into recurrence risks and informing familial screening protocols. The test comprises next-generation sequencing to identify single nucleotide and copy number variants across 51 key genes linked to FTD and ALS, alongside a PCR-based assay to detect C9orf72 repeat expansions.
Special Instructions
This panel includes the C9orf72 GGGGCC hexanucleotide repeat expansions test, which is also available independently as a first-tier test. For targeted familial variant testing, the FMTT / Familial Variant, Targeted Testing is recommended. Panel customization and single gene analysis options are available through the CGPH / Custom Gene Panel service. Clinicians must submit complete and accurate clinical backgrounds, as misinterpretation can occur with incomplete or inaccurate data.
Limitations
The test's next-generation sequencing may not capture all genomic variants, potentially resulting in false negatives or positives. High GC content and repetitive sequences might hinder certain gene regions' effective evaluation due to assay limitations. While the test is designed to identify a significant portion of deletions and duplications, its capacity diminishes with specific intricacies, like deletions-insertions beyond 40 bp and balanced rearrangements, which might go undetected. Additionally, potential contamination from prior hematopoietic transplants could skew results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0
- 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 original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
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 |