PRKAG2-Related Disorders via the PRKAG2 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 11603 | PRKAG2 | 81406 | 81406,81479 | $990 | Order Options and Pricing |
Pricing Comments
Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.Turnaround Time
3 weeks on average for standard orders or 2 weeks 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.
Clinical Features and Genetics
Clinical Features
Wolff-Parkinson-White syndrome (WPW), also called pre-excitation syndrome is characterized by short PR intervals and prolonged QRS. Age of onset varies between 11 and 50 years of age. WPW syndrome occurs in isolation or with hypertrophic cardiomyopathy (HCM-WPW). HCM-WPW is characterized by juvenile to adult onset, atrial fibrillation, atrioventricular conduction block, and electrophysiological abnormalities, especially preexcitation (Gollob et al. N Engl J Med 344:1823-1831, 2001; Blair et al. Hum Mol Genet 10:1215-1220, 2001). The lethal congenital form of glycogen storage disease of heart is characterized by fetal onset, electrocardiographic abnormalities, cardiomegaly, and pulmonary compression resulting in heart failure and ultimately death (Regalado et al. Pediatr Cardiol 20:304-307, 1999).
Genetics
WPW, HCM-WPW and the lethal congenital form of glycogen storage disease of the heart may be caused by heterozygous variants in the PRKAG2 gene. While the WPW and HCM-WPW causative variants are inherited in an autosomal dominant manner (Gollob et al. N Engl J Med 344:1823-1831, 2001; Blair et al. Hum Mol Genet 10:1215-1220, 2001), the glycogen storage disorder of the heart is caused by de novo variants (Burwinkel et al. Am J Hum Genet 76:1034-1049, 2005; Akman et al. Pediatr Res 62:499-504, 2007). All PRKAG2 variants reported to date are missense, except for a single in-frame insertion of a leucine residue in a highly conserved domain of the protein (Blair et al. 2001).
The PRKAG2 gene encodes the gamma-2 regulatory subunit of AMP-activated protein kinase, which regulates substrate use for energy production.
Clinical Sensitivity - Sequencing with CNV PGxome
The sensitivity of this test is not currently known.
Testing Strategy
This test provides full coverage of all coding exons of the PRKAG2 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
Patients with WPW syndrome, patients with HCM and WPW, and patients with lethal congenital glycogen storage disease of heart.
Patients with WPW syndrome, patients with HCM and WPW, and patients with lethal congenital glycogen storage disease of heart.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| PRKAG2 | 602743 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Familial Hypertrophic Cardiomyopathy 6 | AD | 600858 |
| Glycogen Storage Disease Of Heart, Lethal Congenital | AD | 261740 |
| Wolff-Parkinson-White Pattern | AD | 194200 |
Citations
- Akman, H. O., et.al. (2007). "Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase." Pediatr Res 62(4): 499-504. PubMed ID: 17667862
- Blair, E., et.al. (2001). "Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis." Hum Mol Genet 10(11): 1215-20. PubMed ID: 11371514
- Burwinkel, B., et.al. (2005). "Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency." Am J Hum Genet 76(6): 1034-49. PubMed ID: 15877279
- Gollob, M. H., et.al. (2001). "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome." N Engl J Med 344(24): 1823-31. PubMed ID: 11407343
- Regalado, J. J., et.al. (1999). "Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency." Pediatr Cardiol 20(4): 304-7. PubMed ID: 10368461
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.