This test is indicated for patients with symptoms suggestive of GM2 gangliosidosis, deficient HEXA enzyme activity, and normal HEXB enzyme activity; and family members of patients with pathogenic variants in the HEXA gene. This test is also indicated for asymptomatic individuals who are found to have HEXA enzyme activity in the heterozygous carrier range by population based screening. It allows the distinction between pseudodeficiency alleles and disease-causing alleles. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HEXA.

Pathogenic deletions in the HEXA gene are rare. Only one such deletion has been reported in the Quebec French Canadian population (Myerowitz and Hogikyan 1986).

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This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Two sequence variants in the HEXA gene (c.739C>T, p.Arg247Trp and c.745C>T, p.Arg249Trp) result in pseudodeficiency of the HEXA enzyme in the presence of the artificial substrate that is used in the enzyme assay. These two variants were identified in ~36% of non-Jewish individuals and ~ 3% of Jewish individuals who were found to have HEXA enzyme activity in the heterozygous carrier range by population based screening. These variants result in normal enzyme activity in-vivo and do not cause disease (Triggs-Raine et al. 1992; Cao et al. 1993; Cao et al. 1997; Kaback and Desnick 2011).

Tay-Sachs disease (TSD), also known as GM2 Gangliosidosis Type 1, is a neurodegenerative lysosomal storage disorder due to deficiency in the enzyme beta-hexosaminidase A. The enzymatic deficiency results in the accumulation of the lipid GM2 ganglioside, the natural substrate for beta-hexosaminidase A, mainly in nerve cells of the brain and retina. Two main variants of TSD are recognized.

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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Late-onset TSD is clinically heterogeneous in regards to the age of onset of symptoms, clinical features, and progression rate. It is further divided into subacute TSD and chronic TSD. In the subacute TSD, symptoms begin between 2-5 years of age and death occurs in the second decade of life, usually from infections. Symptoms include ataxia, loss of movement coordination, spasticity, dystonia, slow deterioration of speech, gait and posture, cerebellar atrophy, dementia, and loss of vision (Maegawa et al. 2006). In chronic TSD, age of onset varies from childhood to late adulthood and symptoms include seizures, unsteady gait and slow neurological deterioration with cognitive loss and psychosis (Johnson 1981; Navon and Proia 1989).

This test is indicated for patients with symptoms suggestive of GM2 gangliosidosis, deficient HEXA enzyme activity, and normal HEXB enzyme activity; and family members of patients with pathogenic variants in the HEXA gene. This test is also indicated for asymptomatic individuals who are found to have HEXA enzyme activity in the heterozygous carrier range by population based screening. It allows the distinction between pseudodeficiency alleles and disease-causing alleles. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HEXA.

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All TSD variants are inherited in an autosomal recessive manner and result from pathogenic variants in the HEXA gene (Myerowitz and Hogikyan 1986). TSD occurs worldwide, with a carrier frequency of 1/250 in the general population. It is however more prevalent in the Ashkenazi Jewish and Quebec French Canadian populations with carrier frequencies of 1/30 and 1/14, respectively (Kaback 2000).

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This test detects pathogenic variants in over 98% of Ashkenazi Jewish individuals with a diagnosis of TaySachs disease (Kaback et al. 1993) and in about 94% of non-Ashkenazi Jewish individuals (Strom et al. 2013).

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Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

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Over 160 pathogenic variants have been reported and include missense, nonsense, splicing, small insertions/deletions and one large deletion. Pathogenic variants occur throughout the HEXA gene and have been reported in patients from various ethnic and geographic backgrounds such as Argentinean (Zampieri et al. 2012), Indian (Mistri et al. 2012), and Spanish (Gort et al. 2012). However, four prevalent variants have been identified. Three of these, c.1274_1277dupTATC (p.Tyr427IlefsStop5), c.1421+1G>C, and c.805G>A, (p.Gly269Ser), account for the majority of pathogenic variants in Ashkenazi Jewish populations. The fourth variant is a 7.6-kb deletion found mainly in the Quebec French Canadian population (Myerowitz and Hogikyan 1986).

Infantile acute TSD is the most severe and most prevalent variant. It is characterized by onset before the age of 6 months, rapid progression and death by 4 years of age, usually from bronchopneumonia. Symptoms at onset include muscle weakness and atrophy, hypotonia, exaggerated startle response, cherry-red spot in the macula, and decline in psychomotor functions. Abnormal eye movements, visual difficulties and seizures of variable types occur later. Symptoms progress rapidly to blindness, deafness, and generalized paralysis, leading eventually to death (Gravel et al. In: Scriver et al. 2001).

This test provides full coverage of all coding exons of the HEXA gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

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The HEXA gene encodes the alpha-subunit of the beta-hexosaminidase A enzyme, which is involved in the biodegradation of GM2 ganglioside.

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