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Fragile X DNA detection |
| Test |
Fragile X DNA detection |
| Indication |
Genetic studies can be done to determine the presence of fragile X mental retardation. The test is indicated for a family with a history of fragile X syndrome. |
| Physiology |
Fragile X syndrome is the most common form of inherited mental retardation in humans. It is characterised by mental retardation, and facial dysmorphy. |
| Interpretation |
Chromosome and genetic abnormality analysis |
| Sample |
Laboratory generally provides an interpretive report. |
| Test Method |
Southern blotting technique. |
| Related Tests |
Whole blood, amniotic fluid, chorionic villus |
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