Rare disease genetic testing holds significant promise for advancing healthcare. The global market for rare disease genetic testing has expanded substantially due to rising demand for early detection and the growing prevalence of rare diseases.
Increased focus on early detection, particularly in pediatric populations, further drives market growth. Additionally, factors such as higher patient demand and reduced turnaround times for tests contribute to this market's development.
Here are some methods of Genetic Testing for Rare Diseases:
Whole genome sequencing examines the entire genome, capturing all genetic variants including single nucleotide changes and structural variations. It offers the highest diagnostic yield and significantly shortens the time to diagnosis, potentially from years to just days.
Whole exome sequencing targets the exons or coding regions of the genome, which constitute about 1.5% of the total genome. It's a cost-effective method with a high diagnostic yield, particularly useful for detecting mutations that cause rare diseases.
Targeted gene panels focus on genes associated with rare diseases. These panels are tailored to diagnose known genetic conditions more efficiently and affordably than broader sequencing approaches.
Chromosomal microarray analysis identifies large chromosomal abnormalities such as deletions or duplications, which may not be detectable with traditional karyotyping. It is especially valuable for diagnosing developmental delays and congenital anomalies.
Sanger sequencing is used to confirm specific mutations discovered through other genetic testing methods. It is a precise technique commonly used for validating genetic variants identified in broader testing.
Biochemical testing examines proteins or metabolites to detect enzymatic deficiencies or abnormalities, crucial for diagnosing metabolic disorders where specific metabolites indicate a genetic condition.
Mitochondrial DNA testing focuses on the DNA in mitochondria, inherited maternally, to diagnose mitochondrial disorders. These disorders can affect multiple body systems and present diverse symptoms.
RNA sequencing analyzes gene expression and identifies mutations affecting RNA splicing. It provides functional insights into diseases, especially those involving abnormal gene expression.
Prenatal genetic testing, including non-invasive prenatal testing (NIPT) and chorionic villus sampling (CVS), screens for genetic conditions in the fetus. It enables early identification of chromosomal abnormalities, aiding informed decision-making.
Newborn screening involves testing infants shortly after birth for a panel of genetic and metabolic disorders. This early detection allows for prompt intervention and treatment, significantly improving outcomes for conditions that can be managed effectively if caught early, such as spinal muscular atrophy (SMA).
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In conclusion, the diverse types of genetic testing for rare diseases—including Whole Genome Sequencing, Whole Exome Sequencing, and targeted gene panels—offer comprehensive tools for accurate diagnosis and timely intervention. These methods collectively enhance early detection and personalized treatment, significantly improving outcomes for patients with rare genetic conditions.
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