JAK2 V617F "indeterminate" results by MutaScreen can be easily resolved using MutaQuant kits.

AIM: Janus kinase 2 (JAK2) V617F mutation testing has revolutionized the classification of myeloproliferative disorders, for which several tests have been introduced for qualitative and quantitative diagnostics including the MutaScreen and MutaQuant kits by IPSOGEN. One interesting technical observation are those values detected by MutaScreen kits, which have typically "indeterminate" meaning at a provided reference strand cutoff point and cannot be classified as either positive or negative for JAK2 V617F mutation. RESULTS: We ran 10 different patients with such a finding using the MutaQuant kit and got a better resolution and interpretation into clear-cut negative or positive cases, which were also clinically followed and confirmed as being nonmyeloproliferative or myeloproliferative entities, respectively. CONCLUSION: We propose that it is important to not consider the indeterminate or "at-the-reference strand" results obtained by MutaScreen as positive but rather perform additional testing using MutaQuant kits or other JAK2 quantitative assays. For laboratories that can afford it and utilize both assays, it may be a better strategy to directly initiate diagnostic testing using the MutaQuant rather than the MutaScreen kit.

The use of a reverse hybridization strip assay for the study of hemochromatosis-associated gene mutations in Lebanon.

AIMS: Hereditary hemochromatosis (HHC) is the most commonly identified autosomal recessive genetic disorder in the Caucasian population and HFE gene mutations are highly concentrated among European populations. This is the first study that screens for HHC-related gene mutations in a healthy Lebanese sample population. METHODS: Using the reverse hybridization Hemochromatosis StripAssay A from ViennaLab, the DNA extracted from a total of 116 healthy volunteers (59 males and 57 females) was analyzed, looking for 18 different mutations in the HFE, ferroportin, and transferrin genes. RESULTS: For the HFE gene, the C282Y mutation was not detected, but the H63D mutation was found with an overall carrier frequency of 25.8% (24.1% heterozygous and 1.7% homozygous). None of the mutations in the transferrin and ferroportin genes was identified. CONCLUSIONS: The Hemochromatosis StripAssay A from ViennaLab provides an easy and reliable technique for simultaneous screening of the different HFE gene mutations. This first study in Lebanon represents a baseline report for further future studies in the field using this easy technique with a reasonable turnaround time for diagnosis. We also note that ferroportin and transferrin gene mutations have not been detected in this population sample and larger clinical studies will be needed to better estimate their prevalence.