Tay-Sachs/Sandhoff Disease Enzyme Analysis

Disease names Tay – Sachs Disease
Sandhoff Disease
Enzyme Names

Beta-hexosaminidase

Clinical info

Tay Sachs disease is an autosomal recessive lysosomal storage disorder caused by significantly reduced or absent activity of beta-hexosaminidase A. This deficiency results in accumulation of GM2 ganglioside which leads to the destruction of neurons in the brain and spinal cord. Although infants with Tay Sachs disease have normal developmental progress until the age of 3-6 months, regression becomes evident as the disorder progresses. Features of this condition include hypotonia, an increased startle reflex, inattentiveness, a retinal cherry-red spot, and loss of motor skills. Over time, seizures, hearing and vision loss, and spasticity develop, and most affected children die by the age of five. Tay Sachs disease occurs more frequently among specific groups including Ashkenazi Jewish, French Canadian, Pennsylvania Amish, and Louisiana Cajun populations.

Sandhoff disease is clinically indistinguishable from Tay Sachs disease, but it results from deficiencies in both beta-hexosaminidase A and hexosaminidase B. Higher frequencies of Sandhoff disease have been reported among individuals with backgrounds including Northern Argentina Creole, the Metis population in Saskatchewan, and Lebanese descent.

Indications This test can be used to confirm a suspected diagnosis of Tay Sachs or Sandhoff disease. Prenatal diagnosis and carrier testing via enzyme analysis are NOT available.
Associated Tests

Enzyme analysis for beta-hexosaminidase is included in the Lysosomal Enzyme Panel and the Neurological Enzyme Panel. Sequencing for Tay Sachs Disease is available individually, while both HEXA and HEXB sequencing are included in the NGS Lysosomal Storage Disease Panel.

Methodology Quantifies level of total and beta-hexosaminidase via the 4-methylumbelliferyl substrate
Specimen Requirements Enzyme activity can be measured in leukocytes or plasma. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For plasma, please send 5-10 ml of whole blood in a green top (sodium heparin) tube OR plasma can removed from spun down sample and sent frozen.
Transport Whole blood samples should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of specimen collection. Alternatively, plasma can be removed once the sample has been drawn and sent frozen on dry ice. Do not freeze whole blood.
Turnaround time 14 days
CPT Codes 83080
Cost $200
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.