Lab Test

Test Definition Number : 277
Test Definition Name : G6PD sequence analysis
Lab Name : Mayo Clinic Personalized Genomics Laboratory
Lab Test Number of THIS Version : 1221
Lab Test Name : Glucose-6-Phosphate Dehydrogenase (G6PD) Full
Status : Active
Expired : No
Updated : 2018-05-17 06:59 EDT

General Attributes

Chromosome Band : Xq28
HUGO Gene Name : [G6PD] glucose-6-phosphate dehydrogenase
ICD-Oncology Code
(includes WHO classification diagnoses)
:

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Sequencing - Sanger - Bi-directional
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
Saliva
ICD-10 Code :
Use : Clinical - CLIA-certified lab
Clinical - certified for NY patients
Genetics Category : Germline (inherited)
Pharmacogenetics
SNOMED CT :
LOINC :
Comments : HUGO Gene Name: G6PD See https://www.mayomedicallaboratories.com/test-catalog/Specimen/64567 Useful For: -Genetic test for individuals at high risk for G6PD deficiency (for initial or time-sensitive screening for G6PD deficiency, refer to phenotyping enzyme assay G6PD / Glucose-6-Phosphate Dehydrogenase [G-6-PD], Quantitative, Erythrocytes) -Aiding in the diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency -Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping results -Differentiation of heterozygous females with skewed X-inactivation from homozygous and compound heterozygous females -Definitive diagnosis of carrier status in females -Evaluation of neonates (particularly males) with unexplained jaundice -Identifying individuals at risk of drug-induced acute hemolytic anemia (AHA) related to G6PD deficiency
Specimen Transport Requirements :
Samples Available for Proficiency Test Sample Exchange : No

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