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
Not provided.
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 - NCL multi anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
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 |