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<p>With the increasing integration of genetic diagnostics into routine clinical care, clinicians need to ensure that laboratory quality testing is met for better result interpretation and patient counseling. Genetic diagnostic laboratories in India face unique challenges due to diverse methodologies and evolving technologies. This review emphasises the necessity for robust quality assurance systems tailored to the unique requirements of cytogenetics, molecular genetics, and biochemical genetics. Cytogenetic testing requires stringent aseptic sample handling, culture protocols, and microscopy standards for detecting chromosomal abnormalities. Molecular genetic testing should ensure quality DNA extraction, variant-specific PCR validation, and accurate interpretation of variants as per the guidelines. Biochemical genetics, often used for diagnosing metabolic disorders, relies on precise sample requirements, standardising and validating biochemical assay protocols for better reporting. Each field involves distinct pre-testing, testing, and post-testing quality control measures, which must be included in the diagnostic laboratory. Accreditation, participation in external quality assurance schemes, and inter-lab comparison are critical steps toward achieving diagnostic consistency. A systematised quality framework should be adopted by the labs, which is vital for improving diagnostic yield and ensuring clinical utility in genetic medicine.</p>

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Quality Issues in Medical Genetics Laboratories: “What a Clinician Needs to Know?”

  • 期刊论文

  • 发表日期：

    2026年4月17日

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  • Usha R Dutta,
  • Rashmi Shukla,
  • Jyotsna Verma,
  • Ashwin Dalal

摘要

With the increasing integration of genetic diagnostics into routine clinical care, clinicians need to ensure that laboratory quality testing is met for better result interpretation and patient counseling. Genetic diagnostic laboratories in India face unique challenges due to diverse methodologies and evolving technologies. This review emphasises the necessity for robust quality assurance systems tailored to the unique requirements of cytogenetics, molecular genetics, and biochemical genetics. Cytogenetic testing requires stringent aseptic sample handling, culture protocols, and microscopy standards for detecting chromosomal abnormalities. Molecular genetic testing should ensure quality DNA extraction, variant-specific PCR validation, and accurate interpretation of variants as per the guidelines. Biochemical genetics, often used for diagnosing metabolic disorders, relies on precise sample requirements, standardising and validating biochemical assay protocols for better reporting. Each field involves distinct pre-testing, testing, and post-testing quality control measures, which must be included in the diagnostic laboratory. Accreditation, participation in external quality assurance schemes, and inter-lab comparison are critical steps toward achieving diagnostic consistency. A systematised quality framework should be adopted by the labs, which is vital for improving diagnostic yield and ensuring clinical utility in genetic medicine.