🧬 Testing Methodology Credits: Dr. Mohammad Al-Shinnag, KFSHRC 🔬 Sample Type 🧬 Suspected Inherited Disorders (Germline Testing) 🩸 Peripheral blood 🧫 Skin fibroblasts 💇 Hair follicles 👄 Buccal swabs 📌 Requires dedicated non-tumor tissue for accurate germline analysis. 🩸 Cancer Diagnostic and Assessment Workup (Somatic Testing) 🧫 Tumor tissue 🧬 Cancer cells 🩸 Peripheral blood 🦴 Bone marrow 📌 Essential for diagnosis, prognosis, and therapeutic decision-making. ⚙️ Testing Methods 🧪 Chromosomal Analysis 🧬 Karyotyping – Detects large structural abnormalities and aneuploidy. 🔬 FISH (Fluorescence In Situ Hybridization) – Identifies specific gene rearrangements and copy number changes. 📊 Microarray (aCGH/SNP Array) – Detects submicroscopic deletions and duplications. 🧬 Molecular Analysis 🧪 Next-Generation Sequencing (NGS) – Comprehensive mutation profiling. 🔍 Sanger Sequencing – Gold standard for variant confirmation. 🧩 Fragment Analysis – Detects insertions, deletions, and repeat expansions. 📈 PCR-Based Assays/RT-PCR – Targeted detection and quantification of variants. 📊 Sensitivity and Limit of Detection (LOD) 🎯 Purpose of Testing 🔎 Diagnostic Testing – Identifies disease-causing variants. 📉 Prognostic and Management Testing – Guides risk stratification and therapy. 📈 Approximate Sensitivity by Method 🧬 Karyotyping: ~5–10% clone detection. 🔬 FISH: ~1–5%. 🧪 NGS: ~1–5% (≤1% with ultra-deep sequencing). 🧫 RT-qPCR/ddPCR: up to 10⁻⁴–10⁻⁶ for MRD assessment. 🩸 Clinical Relevance in Hematology 🔬 AML: NPM1, FLT3, IDH1/2 mutations. 🧬 CML: BCR::ABL1 detection and monitoring. 🩸 MDS: Cytogenetic abnormalities and somatic mutations. 🧫 ALL: Fusion genes and MRD assessment. 🧬 Myeloma: Copy number alterations and translocations. 🎯 Key Takeaway 📌 Optimal test selection depends on clinical context, specimen type, disease mechanism, and required sensitivity, forming the cornerstone of precision hematology. #MolecularGenomics #TestingMethodology #PrecisionMedicine #NGS #FISH #Cytogenetics #Hematology #KFSHRC

'Examination of exact testing methodology beyond purview of judicial review'; Calcutta High Court upholds tender process #CalcuttaHighCourt #JudicialReview #JusticeSabyasachiBhattacharyya #sampletesting #SterileGloves #tenderprocess #testingmethodology scconline.com/blog/post/2024…

Early communication is important in #ClinicalTrials that refer samples to path laboratories including #HospitalTransfusionLaboratories and #RCILaboratories to allow the understanding of the #Risk related to #TestingMethodology, #Capacity and #Staffing to ensure #GoodPatientCare.

Transaction testing is an unsung hero in business and financial operations! Designed to validate transactional continuity and integrity. Read this to know more. bit.ly/3buUq7w . #mbg #mbginsights #mbgblog #transactiontesting #testingmethodology #riskadvisoryservices

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"Brain" still continues to be the best Tool available for testers! #testing #testingmethodology #testingtechnique #tester #testertips