Answer: an abnormal traits passed through genes
inherited disorder
Single Consolidated Assay Detecting 420 Genes Including Difficult Variants Resulting From. Pseudogenes Paralogues Or Related Homology Issues such as GBA GBAP1 SMN1 SMN2 HBA1 HBA2
CarrierSeq ECS Kit · Genetic Analysis Solution · Next-Gen Sequencing
Brands: Ion Torrent Ion Gene Studio S5 Thermo Fisher Scientific
What is genetic carrier screening?
What are best practices for ECS?
CarrierSeq ECS
NGS-Based End-To-End Solution
Sample-To-Answer Workflow Solutions
PGT-A (aneuploidy) and PGT-M
Resources For ECS
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For Targeted Sequencing
Globally Recognized Gold-Standard
Next-Generation Sequencing
Specimen To Report In A Single Day
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Examples include: Familial hypercholesterolemia Gaucher disease Hunter syndrome Krabbe disease Maple syrup urine disease Metachromatic leukodystrophy Mitochondrial encephalopathy lactic acidosis stroke-like episodes (MELAS) Niemann-Pick Phenylketonuria (PKU) Porphyria Tay-Sachs disease Wilson's ...
A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder) by mutations in multiple genes (multifactorial inheritance disorder) by a combination of gene mutations and environmental factors or by damage to chromosomes (changes in the number or structure of entire chromosomes the structures that carry genes).
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Patterns of Inheritance. Genetic disorders are precisely what they sound like: Diseases caused by a mutation of a gene. When such diseases are inherited (rather than the result of a random mutation) it means they are passed along ...