Genetic diseases are health problems caused by genomic abnormalities. Their diagnosis typically requires genetic testing to identify specific gene mutations. As a supplier of in vitro diagnostic (IVD) products, Alta DiagnoTech provides professional institutions with advanced and comprehensive genetic disease testing solutions to ensure timely and accurate diagnostic support.
Genetic disease is a disease that is passed on genetically through families and is characterized by a single gene mutation, multiple gene mutations, or chromosomal abnormalities. Diagnosing genetic diseases usually relies on genetic testing, which analyzes DNA to detect genetic changes that may cause the disease. However, the diagnostic process is complex. This is because some hereditary diseases may have delayed-onset symptoms or exhibit significant phenotypic variation. In addition, the interaction of environmental and genetic factors may affect the diagnosis of the disease.
Genetic disease diagnostics market is growing at a rapid pace and is valued at USD 5.15 billion by 2023 and is expected to reach USD 8.93 billion by 2030, benefiting from technological advancements in next-generation sequencing and rising prevalence of the disease. Genetic testing is used in the field of genetic disease by analyzing DNA to identify lesions and meet the demand for early genetic disease detection and personalized medicine.
In vitro diagnostics (IVDs) are medical tests or diagnostic procedures performed in a controlled laboratory environment using samples such as blood, urine, and other bodily fluids. These tests can help accurately identify genetic abnormalities and genetic diseases, which is crucial for early diagnosis and personalized treatment. Below are some IVD test kits designed for common genetic diseases.
| Product Name | Detection Methods | Applications |
| Mitochondrial Disease Hotspot Mutation Detection Kit | Polymerase chain reaction (PCR), sequencing | Diagnosis of mitochondrial disease (one of the most common inherited metabolic diseases, caused by mutations in nuclear or mitochondrial DNA). |
| Human BRCA1/2 Gene Mutation Detection Kit | Fluorescence PCR | Assessing genetic risk for breast cancer, ovarian cancer, and other cancers. |
| Spinal Muscular Atrophy (SMA) Carrier Screening Kit | Fluorescence PCR-capillary electrophoresis | Detecting carrier status for the SMA pathogenic gene. |
| Phenylketonuria-related Gene Detection Kit | Gene sequencing | Diagnosis of amino acid metabolic diseases such as phenylketonuria. |
As a global leading supplier of IVD products, Alta DiagnoTech has delved deeply into the field of precise genetic disease detection and launched a series of genetic disease detection kits covering the entire life cycle. This product line utilizes human samples such as blood, urine, saliva, and tissue, combined with cutting-edge technologies such as high-throughput sequencing (NGS) and quantitative PCR, to enable precise screening, diagnosis, and dynamic monitoring of conditions such as single-gene disorders, chromosomal abnormalities, mitochondrial diseases, and genetic tumor susceptibility.
Our genetic screening kit is easy to use and provides rapid initial screening for large populations, accurately identifying potential genetic disease risk signals. It provides strong support for the early detection and timely intervention of genetic problems, helping to improve overall health. Specific coverage:
Relying on advanced molecular detection technology, our molecular diagnostic products cover the genetic level and accurately identify gene mutations related to various genetic diseases, providing a solid and reliable basis for accurate diagnosis, detailed classification, and the formulation of personalized treatment plans. Specific coverage:
Our next-generation sequencing technology (NGS) solutions utilize high-throughput sequencing technology to comprehensively and deeply analyze genomic information, efficiently identifying rare and unknown genetic variations, and providing powerful and effective tools for the precise diagnosis and in-depth research of complex genetic diseases. Specific coverage:
| A-F | ||
| Achondroplasia (ACH) | Alagille Syndrome (ALGS) | Alpha-1 Antitrypsin Deficiency (A1AD) |
| Alport Syndrome | Angelman Syndrome (AS) | Adrenoleukodystrophy (ALD) |
| Amyotrophic Lateral Sclerosis (ALS) | Barth Syndrome (BTHS) | Cystic Fibrosis (CF) |
| Duchenne Muscular Dystrophy (DMD) | Ehlers-Danlos Syndrome (EDS) | Fabry Disease (FD) |
| Familial Hypercholesterolemia (FH) | Fragile X Syndrome (FXS) | Fraser Syndrome |
| G-O | ||
| Gaucher Disease | Hemochromatosis | Hemophilia |
| Hereditary Hemorrhagic Telangiectasia (HHT) | Huntington's Disease (HD) | Long QT Syndrome (LQTS) |
| Maple Syrup Urine Disease (MSUD) | Marfan Syndrome (MFS) | Myotonic Dystrophy (DM) |
| Neurofibromatosis | Noonan Syndrome (NS) | Oculocutaneous Albinism (OCA) |
| P-Z | ||
| Phenylketonuria (PKU) | Polycystic Kidney Disease (PKD) | Pompe Disease |
| Prader-Willi Syndrome (PWS) | Primary Ciliary Dyskinesia (PCD) | Retinitis Pigmentosa (RP) |
| Rett Syndrome (RTT) | Roberts Syndrome | Sickle Cell Disease (SCD) |
| Smith-Lemli-Opitz Syndrome (SLOS) | Spinal Muscular Atrophy (SMA) | Von Hippel-Lindau Disease (VHL) |
| Wilson Disease | X-Linked Agammaglobulinemia (XLA) | Zellweger Syndrome |
Clinical Diagnosis
Assists physicians in accurately diagnosing patients with genetic diseases and developing personalized treatment plans.
Genetic Counseling
Provide carrier screening, prenatal diagnosis, and personalized risk assessment for individuals with a family history of genetic diseases.
Newborn Screening
Offers neonatal screening for inherited metabolic diseases, enabling early diagnosis, treatment, and better outcomes.
Alta DiagnoTech integrates cutting-edge technologies and continuous innovation to lead the field of genetic disease diagnostics. We offer a comprehensive range of IVD products, enabling early detection, personalized treatment, and improved patient outcomes. From single-gene mutation analysis to multi-gene panel testing, our IVD solutions are precisely tailored to the specific application scenarios in the genetic disease field. If you need more information about our products or want a quote, please feel free to contact us!
Reference
| Cat.No | Product Name | Price |
|---|---|---|
| GD-QCY-0012 | Acute Myeloid Leukemia FISH Test Kit | Add To Cart |
| GD-QCY-0013 | Acute Myeloid Leukemia PCR Test Kit | Add To Cart |
| GD-QCY-0014 | Acute Myeloid Leukemia IDH2 Mutation Test PCR Kit | Add To Cart |
| GD-QCY-0015 | Acute Myeloid Leukemia IDH1 R132 Mutation Test PCR Kit | Add To Cart |
| GD-QCY-0016 | Aggressive Systemic Mastocytosi Test Kit | Add To Cart |
| GD-QCY-0017 | B-cell Chronic Lymphocytic Leukemia FISH Test Kit | Add To Cart |
| GD-QCY-0018 | Bladder Cancer Test Kit | Add To Cart |
| GD-QCY-0019 | Breast Cancer HER2 Mutation Test Kit | Add To Cart |
| GD-QCY-0020 | Breast Cancer HER2 Mutation CISH Test Kit | Add To Cart |
| GD-QCY-0021 | Breast Cancer PIK3CA Mutation RT-PCR Test Kit | Add To Cart |
| GD-QCY-0022 | Chromosome Abnormalities FISH Test Kit | Add To Cart |
| GD-QCY-0023 | Chronic Myeloid Leukemiaq PCR Test Kit | Add To Cart |
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