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Routine Hemoglobinopathy
Molecular Assays


Linear Array
Multiplex Gap PCR
DNA sequencing
Multiplex Ligation probe amplification


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Clinical Diagnostics and Research tools

Molecular Assays

Molecular techniques expand  the analysis of hemoglobinopathies. The Linear Array assay is a multiplexed reverse dot blot genotyping method, used to simultaneously test for a panel of  common beta globin variants (Hb S, C, E, D, and O), as well as majority (>95%) of common beta-thalassemia mutations. The Multiplex Gap PCR assay (amplification using oligo-primers flanking deletion breakpoints) is used to detect common alpha thalassemia deletion mutations, alpha globin gene duplications, and other globin gene deletions, such as Hb Lepore and HPFH. DNA sequence analysis of alpha, beta or gamma globin genes is performed to definitively identify unknown point mutations or sequence variation.  
Multiplex Ligation-dependent Probe Amplification (MLPA) is used to identify large or unknown alpha-thalasssemia or beta-thalassemia deletions.

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Clinical Diagnostics and Research tools