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Optical aberrations are imperfections in the way lenses converge rays of light to a point. These lens aberrations can be categorized into two types: the ...
DLC coatings can be optimized significantly to maximize durability, reduce friction, or improve appearance. All VaporTech diamond like carbon (DLC) coating equipment can be configured to apply both metal-based PVD finishes as well as our durable diamond-like carbon coatings. Our DLC machines apply coatings to machine tooling, engine components, cutting tools, dies and molds, medical devices, outdoor sports, and other high-value products.
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).
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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).
Our DLC coatings feature low friction, excellent wear resistance, and a dark gray to near-black color. The unique VaporTech plasma-enhanced chemical vapor deposition (PECVD) diamond like coating process can coat complex geometries.
Additionally, any stains or contaminants on the optic will be more visible and impossible to remove after coating. The first step in cleaning as-fabricated ...
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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.
The HEXA gene encodes the alpha-subunit of the beta-hexosaminidase A enzyme, which is involved in the biodegradation of GM2 ganglioside.
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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Choose the right-sized, right-priced system that deposits functional and durable/decorative coatings to meet your needs.
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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.
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W-DLC (a-C:H:W DLC) is a tungsten-doped amorphous carbon coating. With similar wear resistance to the DLC coating described above, W-DLC offers lower internal stresses, improved adhesion, and more toughness than undoped members of the DLC family. These a-C:H:W PVD coatings are ideal for applications such as gears, bearings, punches, dies, and molds. They come in shades of gray.
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.
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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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Choose the right-sized, right-priced system that deposits functional and durable/decorative coatings to meet your needs.
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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.
VaporTech® coatings enhance your product’s look, functionality, and durability with a rainbow of PVD colors and performance coatings for functional applications.
VaporTech® DLC coatings are diamond-like thin-film coatings applied through a plasma-enhanced chemical vapor deposition (PECVD) process.
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.
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).
VaporTech® coatings enhance your product’s look, functionality, and durability with a rainbow of PVD colors and performance coatings for functional applications.
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Plasma-Enhanced Chemical Vapor Deposition (PE-CVD), available in all VaporTech® systems, creates our popular VT- DLC (or a-C:H). VT-Series coaters bond this coating to the surface using a Physical Vapor Deposition (PVD) metal adhesion layer of Zirconium (Zr), Titanium (Ti), or Chromium (Cr). DLC coatings combine low friction and high hardness for applications requiring easy release or low sliding wear, like engine components, medical devices, dies, molds and firearms. Moreover, these diamond like coating processes create a rich, neutral black color that enhances product appearance and value.
Polarized lenses will block light coming through to your eyes from a certain angle, meaning they reduce glare, and allow you to see as you traverse the roads ...
by V Ruzzi · 2023 · Cited by 1 — This self-effect on beam propagation, known as Thermal Lensing (TL), is extensively exploited in sensitive spectroscopic techniques, and in ...
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).
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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).
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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).
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.
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.
DLC (a-C:H DLC) is an amorphous carbon coating with very low friction, high hardness, resistance to sliding wear, biocompatibility, and an attractive appearance. It is commonly used for automotive components, medical devices, dies, molds, firearms, cutting tools, sporting goods, and other durable consumer goods. This coating is typically a graphite to black color.