When would a doctor recommend this test instead of?

[Anonymous]

When would a doctor recommend this test instead of, or in addition to, gene sequencing?

[Genetic Counselor]

This technique is chosen specifically when a large deletion or duplication is suspected rather than a small sequence-level change — for example, when a patient has a strong family history of a condition but a prior sequencing report was negative, since sequencing alone can miss large rearrangements. It is also the first-line test for conditions where large deletions or duplications are the predominant mutation type, such as Duchenne muscular dystrophy or spinal muscular atrophy, making it more cost-effective than sequencing as a starting point. In most comprehensive genetic testing workflows, sequencing and this technique are used together, since each detects a different category of genetic change and neither alone gives a complete picture.

[Author]

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