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Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing
Clinical Genetic Test
Help
offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000593056.3
CAP
PHARMACOGENOMICINHERITED DISEASEHEMATOLOGY ... View more
Last updated in GTR: 2024-04-08
View version history
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Drug Response; Risk Assessment; ...
Conditions (9): Help
Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Chlorpropamide response; Glibenclamide response; ...
Genes (1): Help
G6PD (Xq28)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals with clinical features of glucose-6-phosphate dehydrogenase (G6PD) deficiency. Carrier …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Guidance for selecting a drug therapy and/or dose
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
G6PDZ
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Elyse Love, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
gcmolgen@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/Overview/610053#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Agilent 2100 Bioanalyzer
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Risk Assessment; Therapeutic management
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Glucose-6-phosphate dehydrogenase deficiency. Cappellini MD, et al. Lancet. 2008;371(9606):64-74. doi:10.1016/S0140-6736(08)60073-2. PMID: 18177777.

Guidance for selecting a drug therapy and/or dose
View citations (1)
  • Relling MV, McDonagh EM, Chang T, Caudle KE, McLeod HL, Haidar CE, Klein T, Luzzatto L, . Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype. Clin Pharmacol Ther. 2014;96(2):169-74. doi:10.1038/clpt.2014.97. Epub 2014 May 02. PMID: 24787449.

Target population: Help
Individuals with clinical features of glucose-6-phosphate dehydrogenase (G6PD) deficiency. Carrier screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency in females with a family history of glucose-6-phosphate dehydrogenase (G6PD) deficiency. Individuals needing preemptive or reactive genotyping for pharmacogenomic purposes.
View citations (2)
  • Glucose-6-phosphate dehydrogenase deficiency. Cappellini MD, et al. Lancet. 2008;371(9606):64-74. doi:10.1016/S0140-6736(08)60073-2. PMID: 18177777.
  • Relling MV, McDonagh EM, Chang T, Caudle KE, McLeod HL, Haidar CE, Klein T, Luzzatto L, . Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype. Clin Pharmacol Ther. 2014;96(2):169-74. doi:10.1038/clpt.2014.97. Epub 2014 May 02. PMID: 24787449.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All detected variants are evaluated according to the most recent American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Contact lab for details.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Genomic DNA is extracted from whole blood. The G6PD gene is amplified by polymerase chain reaction (PCR). The PCR products are then purified and sequenced in both directions using fluorescent dye-terminator chemistry. Sequencing products are separated on an automated sequencer and trace files analyzed for variations in the exons and … View more
Test Platform:
Other
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy and analytical sensitivity for simple variants (SNVs and INDELs): (>99%).
Assay limitations: Help
Patients who have received a heterologous blood transfusion within the preceding 6 weeks, or who have received an allogeneic blood or marrow transplant, can have inaccurate genetic test results due to the presence of both donor and recipient DNA. For patients who have been transfused within the preceding 6 weeks, … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
Variants may be analyzed using any combination of the following: Alamut, REVEL, Polyphen-2, SIFT, AGVGD, MutationTaster, SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, gene-specific online databases, ISCA, UCSC Genome Browser

Laboratory's policy on reporting novel variations Help
All novel variants and copy number variants are evaluated for potential pathogenicity and included in the written report, accordingly.
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.