METHOD AND SYSTEM FOR DETERMINING FETAL SPINAL MUSCULAR ATROPHY HAPLOTYPE

摘要

Disclosed are a method for determining a fetal spinal muscular atrophy haplotype, comprising the following steps: constructing a third-generation sequencing library on the basis of blood samples, the blood samples being from parents of a fetus; performing third-generation sequencing on the third-generation sequencing library to obtain a third-generation sequencing resu determining the spinal muscular atrophy haplotypes of the parents according to the third-generation sequencing resu constructing a second-generation sequencing library on the basis of a test sample, the test sample being a peripheral blood sample of a pregnant woman; performing second-generation sequencing on the second-generation sequencing library to obtain a second-generation sequencing resu and determining the spinal muscular atrophy haplotype of the fetus according to the second-generation sequencing result and the spinal muscular atrophy haplotypes of the parents.