DNA icon

Glucose-6-Phosphate Dehydrogenase Deficiency via the G6PD Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7657 G6PD 81249 81249,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7657G6PD81249 81249,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Luke Drury, PhD

Clinical Features and Genetics

Clinical Features

Glucose-6-phosphate dehydrogenase deficiency (G6PD) is a condition that mainly affects red blood cells. People with G6PD are largely asymptomatic but can develop bouts of illness. In affected individuals, mutations in the G6PD gene leads to a decrease in glucose-6-phosphate dehydrogenase enzymatic activity resulting in premature breakdown of red blood cells. Clinical features of G6PD may include hemolytic anemia leading to paleness, lumbar/substernal pain, jaundice, dark urine, fatigue, shortness of breath, and a rapid heart rate. Hemolytic anemia events are often triggered by infection or other oxidative stressors including certain drugs, medical conditions like diabetic ketoacidosis and fava beans (Rochford et al. 2013; Elyassi and Rowshan 2009; Frank 2005). Known drugs to trigger hemolysis in individuals affect with G6PD include sulfonamides, certain analgesics, naphthalene, methylene blue, thiazolesulfone, and a few non-sulfa antibiotics (nalidixic acid, dapsone, nitrofurantoin, isoniazid, and furazolidone) (Frank 2005). The World Health Organization has classified 3 main types of G6PD according to the magnitude of G6PD enzyme deficiency with class I being most severe with less than 10% of normal enzymatic function. Preventative measures such as blood transfusions, splenectomy, folic acid supplementation, and avoidance of drugs or foods that cause hemolysis have been used in management of G6PD (Frank 2005).

Genetics

G6PD is inherited in an X-linked recessive manner and thereby primarily affects males. Heterozygous females are usually asymptomatic. It affects an estimated 400 million people worldwide with the highest prevalence reported in Africa, southern Europe, the Middle East, Southeast Asia, and the Pacific islands. Missense mutations in the G6PD gene predominantly affect protein stability and are the main documented causative mutation type (Villiamy et al. 1988; Cappellini and Fiorelli 2008). Each ethnic group has predominant founder mutations such as G6PD Mediterranean (c.563C>T). G6PD deficiency provides protection against malarial infection owning to its prevalence in the indicated populations. G6PD enzyme catalyzes the first step in the pentose phosphate pathway which produces antioxidants to protect cells against oxidative stress. Triggers that heighten oxidative stress in red blood cells result in hemolytic anemia and symptom onset in patients with G6PD (Frank 2005).

Clinical Sensitivity - Sequencing with CNV PG-Select

Sequencing by this method is capable of detecting >95% of causative mutations for the G6PD. For individuals with biochemical testing indicating G6PD deficiency, clinical sensitivity is predicted to be >95%.

Testing Strategy

This test provides full coverage of all coding exons of the G6PD gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients showing features consistent with G6PD (anemia, increased LDH, decreased haptoglobin, and presence of Heinz bodies). Biochemical G6PD enzymatic assays may appear normal during an acute hemolytic episode (Aster et al. 2013). Families with members who have known G6PD mutations are also strong candidates.

Gene

Official Gene Symbol OMIM ID
G6PD 305900
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Hemolytic anemia due to G6PD deficiency XL 300908

Citations

  • Aster, JC, Pozdnyakova, O, Kutok, JL. Hematopathology. Philadelphia: Elsevier Saunders, 2013.
  • Cappellini MD, Fiorelli G. 2008. Glucose-6-phosphate dehydrogenase deficiency. Lancet 371: 64–74. PubMed ID: 18177777
  • Elyassi AR, Rowshan HH. 2009. Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature. Anesth Prog 56: 86–91. PubMed ID: 19769422
  • Frank JE. 2005. Diagnosis and management of G6PD deficiency. Am Fam Physician 72: 1277–1282. PubMed ID: 16225031
  • Rochford R, Ohrt C, Baresel PC, Campo B, Sampath A, Magill AJ, Tekwani BL, Walker LA. 2013. Humanized mouse model of glucose 6-phosphate dehydrogenase deficiency for in vivo assessment of hemolytic toxicity. Proc. Natl. Acad. Sci. U.S.A. PubMed ID: 24101478
  • Vulliamy TJ, D’Urso M, Battistuzzi G, Estrada M, Foulkes NS, Martini G, Calabro V, Poggi V, Giordano R, Town M. 1988. Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Proc. Natl. Acad. Sci. U.S.A. 85: 5171–5175. PubMed ID: 3393536

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

loading Loading... ×

ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
×
Copy Text to Clipboard
×