GM2-Gangliosidosis (Sandhoff Disease)

View All DNA Tests

Related Terms: HEXB

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

5–6 months

View Sample Collection and Shipping Instructions

Sample Processing

Cost: $75.00

Species and Breeds
Canine - Shiba Inu

Order Test We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical signs become apparent at 5–6 months of age. These clinical signs include ataxia (incoordination), intention tremor (a tremor that is evident when an affected dog initiates a voluntary movement), dysmetria (disturbance in the control in the range of muscular movement), progressive inability to stand, corneal clouding, and muscle rigidity. Dogs with this disease have dramatically shortened life expectancies and generally live for 14–15 months.

14–15 months

Autosomal recessive

Fluorescence microscopy of unstained neurons of the cerebellum, cerebral cortex, and retina demonstrates large accumulations of yellow-emitting autofluorescent storage bodies.

HEXB and XM_022414769.1:c.849_851delCCT

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with GM2-Gangliosidosis (Sandhoff Disease) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of GM2-Gangliosidosis (Sandhoff Disease) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of GM2-Gangliosidosis (Sandhoff Disease) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Wang P, Henthorn PS, Galban E, Lin G, Takedai T, Casal M. Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. J Vet Intern Med. 2018 Jan;32(1):340-347. doi: 10.1111/jvim.14862. Epub 2017 Nov 6. PMID: 29106755; PMCID: PMC5787214. Kolicheski A, Johnson GS, Villani NA, O'Brien DP, Mhlanga-Mutangadura T, Wenger DA, Mikoloski K, Eagleson JS, Taylor JF, Schnabel RD, Katz ML. GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. J Vet Intern Med. 2017 Sep;31(5):1520-1526. doi: 10.1111/jvim.14794. Epub 2017 Aug 20. PMID: 28833537; PMCID: PMC5598891.