GTR Home > Tests > Fructose-1,6-bisphosphatase deficiency

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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For Proficiency Testing, both external and internal, during years of our lab operation, we have Sanger-sequenced hundred thousands of PCR fragments, and the error rate is less than 0.01% (99.99% accuracy). We had performed MLPA on hundred thousand samples, and NGS and qPCR methods (used for increasing number of genes and panels) with the maximal possible technical accuracy (>99,8%). CentogeneĀ“s technical specificity for methods in use is > 99,9% and technical sensitivity > 99,8%. Mutation detection reproducibility for Sanger sequencing and qPCR is 100%.

Citations

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Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Formal PT program

FDA Regulatory Clearances of the Test

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Not provided

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