MMQCI'S BLOG
How Next-Generation Sequencing Is Reshaping CF Newborn Screening
Mon, Jun 1st, 2026 9:41 am
Cystic fibrosis (CF) is a life‑limiting autosomal recessive disease caused by pathogenic variants in the CFTR gene on chromosome 7, which encodes an epithelial chloride channel.[1–4] Defective CFTR leads to dehydrated, viscous secretions that obstruct small ducts and airways, driving chronic lung infection, exocrine pancreatic insufficiency, malnutrition, male infertility, and multi‑organ complications.
Decoding Leukemia: How NPM1 and PML-RARA Drive Diagnosis and Treatment in AML
Dec 16th, 2025
Understanding the molecular drivers of acute myeloid leukemia (AML) has transformed how clinicians diagnose, classify, and treat this complex disease. Two of the most informative genetic alterations—NPM1 mutations and the PML-RARA...
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Quantitative External Quality Controls for Leukemia – Vital Overseers of Blood Cancer Assay Performance
Jan 15th, 2025
Leukemias are a relatively common set of blood cancers, with close to half a million cases diagnosed worldwide every year. An increase in the availability of diagnostic assays, and advances in leukemia treatments, have overall increased remission...
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Quality Controls: The Unsung Hero of Molecular Diagnostics
Jun 6th, 2024
Molecular diagnostics has emerged as a cornerstone for disease diagnosis, treatment guidance, and patient management. The ability of molecular assays to detect genetic alterations and identify specific pathogens plays a critical role in shaping...
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You want to run what? 3 Different Perspectives on Using Quality Controls
Apr 16th, 2024
The College of American Pathologists (CAP) Accreditation Program Molecular Pathology Checklist (v. 08.24.2023) defines controls as “surrogates for patient specimens to monitor the ongoing performance of the entire analytic process in every run.”
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