Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
Use
This test is used for following up on abnormal biochemical results that suggest Sandhoff disease and aids in establishing a molecular diagnosis for patients with Sandhoff disease. It identifies variants within the HEXB gene that are known to be associated with Sandhoff disease, allowing for predictive testing of at-risk family members. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Sandhoff disease.
Special Instructions
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the HEXB gene associated with Sandhoff disease. Prenatal specimens such as amniotic fluid or chorionic villi require additional culture tests which incur extra charges. For cord blood specimens with maternal blood, maternal cell contamination studies are performed for additional charges.
Limitations
Potential limitations include the inability to obtain viable cells from fibroblast or chorionic villi specimens. The test primarily focuses on detecting variants in the HEXB gene and might not identify all possible variants associated with Sandhoff disease. Reflex tests and additional analysis may be required for comprehensive genetic assessment, which are performed at an additional cost.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided