GTR Home > Tests > Pyruvate kinase deficiency with hemolytic anemia

Overview

Test order codeHelp: 481

Test name

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Pyruvate kinase deficiency with hemolytic anemia

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
PCR with allele specific hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity

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Number of mutation were so far reported as causing mutation for this disease. More than dozen mutation were reported and majority of identified mutation are missense/nonsense, that can be identified with 99,9% specificity using standard sequencing at Centogene. Gene test for this gene could support precise diagnosis of the disease in majority of affected patients with family history, as well as number of sporadic patients with particular symptomatology.

Citations

Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • The gene test for this gene will lead to an improved health outcome in affected patients. The test can provide information about diagnosis, and support the treatment, management, or prevention of a disease. This gene test also supports following issues: the effectiveness of available interventions for individuals at increased risk, social consequences of genetic information, economic implications of genetic testing and follow-up of the patients.

How to order

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Order URL Help: https://www.centogene.com/ordering/how-to-order-a-test.html

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.

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