Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies
Use
The test is useful for follow-up of abnormal biochemical or electron microscopy results suggestive of neuronal ceroid lipofuscinoses (NCL), also known as Batten disease. It helps establish a molecular diagnosis for patients with NCL by identifying genetic variants within genes known to be associated with the disease. Moreover, the test facilitates predictive testing of at-risk family members, enhancing family counseling and management strategies.
Special Instructions
Customization of the panel and single gene analysis for any gene present in this panel are available upon request. This involves using the Inborn Errors of Metabolism disease state step on the provided Custom Gene Ordering Tool link. It's crucial to note that prior hematopoietic stem cell transplants can interfere with testing, and appropriate processes should be followed as described. Skin biopsy or certain prenatal specimens might result in additional fibroblast culture fees if viability is affected.
Limitations
Next-generation sequencing may not detect all types of genomic variations, particularly full structural rearrangements like translocations and inversions. Variants in regions with high homology, high guanine-cytosine content, or repetitive sequences may also not be effectively evaluated. Additionally, test performance is estimated at above 95% for deletions up to 75 bp and insertions up to 47 bp. Results could be inaccurate if the patient has had a stem cell transplant or recent blood transfusion containing donor DNA.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105349-5
- 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 original tube. Do not aliquot; collected postnatal from umbilical cord is also acceptable.
Storage Instructions
Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |