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Test ID G6PDB Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies

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 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

Method Name

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

Reporting Name

G6PD Full Gene Sequencing

Specimen Type

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


1. Patient's sex is required.

2. 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 specimen in original tube.

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

 

Specimen Type: Extracted DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated


Specimen Minimum Volume

Blood: 0.45 mL
Saliva: 1 swab

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday, Wednesday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81249

LOINC Code Information

Test ID Test Order Name Order LOINC Value
G6PDB G6PD Full Gene Sequencing 94231-8

 

Result ID Test Result Name Result LOINC Value
37847 Phenotype 47998-0
48399 Result Details 82939-0
37848 Interpretation 69047-9
37850 Method 85069-3
37902 Disclaimer 62364-5
38194 Additional Information 48767-8
37851 Reviewed By 18771-6

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:

-Benign Hematology Test Request (T755)

-Therapeutics Test Request (T831)