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Test Code G6PDZ Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies


Ordering Guidance


For initial or time-sensitive screening for glucose-6-phosphate dehydrogenase deficiency, order G6PD1 / Glucose 6-Phosphate Dehydrogenase Enzyme Activity, Blood.



Necessary Information


Include physician name and phone number with the specimen.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient 30 days

 


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Therapeutics Test Request (T831)

-Benign Hematology Test Request Form (T755)

Useful For

Genetic test for individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency

 

Aiding in the diagnosis of G6PD deficiency

 

Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping results

 

Differentiation of heterozygotes with skewed X-inactivation from homozygotes and compound heterozygotes

 

Definitive diagnosis of carrier status

 

Evaluation of neonates with unexplained jaundice

 

Identifying individuals at risk of drug-induced acute hemolytic anemia related to G6PD deficiency

Method Name

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

Reporting Name

G6PD Full Gene Sequencing, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 0.45 mL
Saliva: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations will be evaluated according to the latest American College of Medical Genetics and Genomics recommendations and the most recent World Health Organization system for classifying genetic variants of G6PD.(1,2) Variants will be classified based on known, predicted, or possible effect on gene pathogenicity and reported with interpretive comments detailing their potential or known significance.

Day(s) Performed

Monday, Wednesday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81249

LOINC Code Information

Test ID Test Order Name Order LOINC Value
G6PDZ G6PD Full Gene Sequencing, V 94231-8

 

Result ID Test Result Name Result LOINC Value
618837 G6PD Phenotype 47998-0
618838 Result Details 82939-0
618839 Interpretation 69047-9
618840 Additional Information 48767-8
618841 Method 85069-3
618842 Disclaimer 62364-5
618843 Reviewed By 18771-6