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Genetic Disorder Equipment & Supplies
30 equipment items found
Manufactured by:Access Bio based inSomerset, NEW JERSEY (USA)
Recommended by the WHO during the Malaria Policy Advisory Meeting. G6PD deficiency is an X-linked recessive genetic disorder, resulting in no or low G6PD activity. G6PD deficienct patients are vulnerable to the spontaneous destruction of red blood cells when exposed to high oxidative stress. High oxidative stress may result from consumption of primaquine ...
Manufactured by:ViennaLab Diagnostics GmbH based inVienna, AUSTRIA
Congenital adrenal hyperplasia (CAH) is an inherited disorder affecting steroid hormone synthesis. The CAH StripAssay® detects the most common point mutations, whereas the CAH RealFast™ CNV Assay identifies copy number variations (CNVs) in the CYP21A2 gene in patients with CAH. For comprehensive genetic analysis both assays should be used in ...
Manufactured by:ViennaLab Diagnostics GmbH based inVienna, AUSTRIA
Alpha-1 Antitrypsin (AAT) deficiency is an inherited disorder, which is still an underappreciated, but treatable cause of chronic obstructive pulmonary disease (COPD). The AAT RealFast™ Assay is designed for the simultaneous detection of protease inhibitor (PI) variants *S and *Z of the SERPINA1 gene, representing the most frequent alleles associated with AAT ...
Manufactured by:Anatolia Geneworks based inSultanbeyli – Istanbul, TURKEY
Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder, which occurs commonly in Mediterranean countries causing symptoms such as recurrent acute fever, abdominal pain, joint pain etc. FMF prevalence varies in Turkey locally. However, 0-5 out of every 1000 person have FMF disorder. ...
Manufactured by:Sana Biotechnology based inSeattle, WASHINGTON (USA)
Liver-related genetic disorders: Ornithine transcarbamylase deficiency ...
Manufactured by:Evox Therapeutics Limited based inOxford, UNITED KINGDOM
Argininosuccinic aciduria (ASA) is a rare genetic disorder characterized by a deficiency or lack of the enzyme argininosuccinate lyase (ASL). ...
by:Cartesian Therapeutics based inGaithersburg, MASSACHUSETTS (USA)
ImmTOR has the potential to administer multiple low doses to achieve therapeutic benefit without risk of overdosing, the ability to treat patients typically excluded from these treatments and is a novel approach to treating systemic diseases resulting from genetic disorders. ...
Manufactured by:MDL Srl based inDelebio, ITALY
Chiba needle with special point for amniocentesis. Amnio is a disposable needle for transabdominal sampling of amniotic fluid for prenatal diagnosis of genetic disorders of the fetus (amniocentesis). ...
by:Cartesian Therapeutics based inGaithersburg, MASSACHUSETTS (USA)
Selecta’s wholly owned gene therapy program for the treatment of ornithine transcarbamylase (OTC) deficiency is expected to enter the clinic in 2022. OTC deficiency is a genetic disorder urea cycle that causes ammonia to accumulate in the blood. The most severe form of the disorder presents within the first few days of life. Severe symptoms ...
by:CIS Pharma AG based inBubendorf, SWITZERLAND
Oligo- and poly-nucleotide based RNAi therapeutics comprise a high clinical potential for unmet medical diseases and are seen as promising approach to combat a number of different indications including oncology, genetic disorders, auto-immune disorders, orphan diseases and viral ...
Manufactured by:RI.MOS. srl based inMirandola (MO), ITALY
For transabdominal sampling of amniotic fluid (usually performed between the 15th and 18th pregnancy week) for prenatal diagnosis of genetic disorders of the foetus. It is also used for cytogenetic and biochemical studies. The mandrel is provided with an ultrasound detectable tip allowing an echo-guided insertion. The needle is provided with an adjustable stopper ...
Manufactured by:Rocket Pharmaceuticals, Inc. based inCranbury, NEW JERSEY (USA)
FA is a rare, genetic disorder affecting DNA repair. Approximately two-thirds of FA cases are caused by genetic defects in the FANCA gene, which results in the FA subtype known as FA Complementation Group A (FA-A). FA patients may develop bone marrow failure (very low blood counts), cancers of the blood or other ...
Manufactured by:GenSol Diagnostics based inClayton, GEORGIA (US) (USA)
Laryngeal paralysis (LP) is a genetic disorder that results in breathing difficulties which can be made worse by physical activity and may lead to suffocation in severe cases. The condition may require surgery to alleviate breathing difficulties. Symptoms of the disease can include a respiratory murmur, wheezing, reduced tolerance for exercise, voice impairment, ...
by:Neoclease based inBoston, MASSACHUSETTS (USA)
These enzymes are meticulously crafted using proprietary algorithms powered by state-of-the-art GPT neural networks, which are capable of redesigning nucleases for specific genetic targets. This approach allows Neoclease to tailor solutions uniquely to each client's needs. The focus on innovation extends to the creation of comprehensive nuclease libraries, ensuring a wide range ...
Manufactured by:Rocket Pharmaceuticals, Inc. based inCranbury, NEW JERSEY (USA)
LAD-I is a rare genetic disorder affecting the immune system and is caused by a defect in the ITGB2 gene, leading to a deficiency in CD18. Due to this deficiency, white blood cells (primarily neutrophils) are unable to leave the bloodstream to go to the site of infection. ...
Manufactured by:Rocket Pharmaceuticals, Inc. based inCranbury, NEW JERSEY (USA)
Danon Disease (DD) is a rare genetic disorder that is characterized by severe and primarily hypertrophic cardiomyopathy. Skeletal muscle weakness and mild cognitive impairment are also common. The causative mutation has been identified in the gene encoding for lysosome-associated membrane protein (LAMP2), and in particular the LAMP2B version of the gene which is ...
Manufactured by:HemoShear Therapeutics, Inc. based inCharlottesville, VIRGINIA (USA)
HST5040 is an investigational small molecule therapy being developed by HemoShear to reduce the levels of toxins associated with methylmalonic acidemia (MMA) and propionic acidemia (PA), rare genetic disorders caused by the de?ciency of certain enzymes required to metabolize amino acids. HST5040 is formulated for convenient daily administration at home as a ...
by:Aegle Therapeutics based inWoburn, MASSACHUSETTS (USA)
Epidermolysis bullosa (“EB”) is a group of rare genetic disorders that manifests as blistering or erosion of the skin in response to little or no apparent trauma. There are many genetic and symptomatic variations of EB. EB is always painful, often pervasive and debilitating, and is in some cases lethal before the age of 30. ...
Manufactured by:Ziphius Vaccines NV based inMerelbeke, BELGIUM
Proteins are large biological macromolecules that are essential parts of organisms and participate in virtually every process within cells. Proteins are created through the process of gene expression, in which genetic information from DNA is transcribed into messenger RNA (mRNA) in the cell nucleus. Next, the mRNA gets translated by ribosome in the cytoplasm into functional ...
Manufactured by:VECT-HORUS based inMARSEILLE, FRANCE
Vect-Horus has developed its “VECTrans®” breakthrough technology platform with the objective of making the ‘undruggable’ druggable by overcoming challenges of the BBB, and more generally biological barriers. VECTrans® is based on the specific design and optimization of ‘molecular vectors’ that, once conjugated to a payload, enable its delivery to target ...