In a large gene with widespread mutations such as L1CAM, a mutation must be detected in another family member before direct prenatal mutation testing can be done within the required timeframe. If the proper family members are available, haplotyping offers a fast but indirect test with several limitations.
Encarnación Ernesto Bobadilla SotoAngélica Espinoza‐OrtegaFrancisco Ernesto Martínez-Castañeda
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