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

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


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%.


Not provided

Proficiency Testing (PT)

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

FDA Regulatory Clearances of the Test


Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center