Resolving diagnostic complexity: long-read sequencing unmasks a Hong Kongαα/‒α4.2 genotype mimicking a heterozygous ‒α3.7 deletion on multiplex ligation-dependent probe amplification.

Abstract excerpt

INTRODUCTION: Complex structural variants in thalassemia are rare and often undetectable or misdiagnosed by conventional genetic testing methods. We report a case initially misclassified by multiplex ligation-dependent probe amplification (MLPA) as a heterozygous ‒α3.7 deletion that was subsequently correctly identified by third-generation sequencing (TGS) as the Hong Kongαα (HKαα)/‒α4.2 genotype. METHODS: Gap...

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