DNA icon

Glycogen Storage Disease Type X via the PGAM2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
PGAM2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9099PGAM281479 81479,81479 $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.

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.


Genetic Counselors


  • Maxime Cadieux-Dion, PhD

Clinical Features and Genetics

Clinical Features

Glycogen storage disease type X (GSD10), also known as phosphoglycerate mutase (PGAM) deficiency, is a rare glycogen storage disease caused by deficiency of the muscle-specific isoform of PGAM (Tsujino et al. 1993). Most patients with GSD10 are asymptomatic in the absence of strenuous exercise, but experience exercise-induced myalgia, muscle-cramps, and myoglobinuria (Tsujino et al. 1993; Joshi et al. 2009; Naini et al. 2009; Tonin et al. 2009; Salameh et al. 2013). Some patients have also been reported to have tubular aggregates observed on muscle biopsy (Oh et al. 2006; Joshi et al. 2009; Naini et al. 2009; Salameh et al. 2013). To date, less than 20 patients with GSD10 have been reported worldwide (Tsujino et al. 1993; Oh et al. 2006; Joshi et al, 2009; Naini et al, 2009; Tonin et al. 2009; Salameh et al. 2013). Although the disorder appears to be more prevalent in individuals of African-American origin (Tonin et al. 2009), it has also been described in individuals of Italian, German, Pakistani, and Panamanian origin (Tsujino et al. 1993; Joshi et al. 2009; Naini et al. 2009; Salameh et al. 2013).


GSD10 is inherited in an autosomal recessive manner and is caused by variants in the PGAM2 gene. PGAM2 encodes the muscle subunit of phosphoglycerate mutase (PGAM). PGAM is a glycolytic enzyme that catalyzes the conversion of 3-phosphoglycerate to 2-phosphoglycerate (Tsujino et al. 1993; Naini et al. 2009). To date, a total of about 10 pathogenic variants have been reported in PGAM2 associated with PGAM deficiency, including five missense, two nonsense, and one single nucleotide deletion (Human Gene Mutation Database). The most common variant reported to date is c.233G>A (p.Trp78*), which has been reported in all patients of African American origin (Salameh et al. 2013). 

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic PGAM2 variants were reported in 27/28 (96.4%) of alleles in 14 patients diagnosed with GSD10 (Salameh et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the PGAM2 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

This test is appropriate for all patients with clinical features suggestive of GSD10 and asymptomatic carrier relatives. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PGAM2.


Official Gene Symbol OMIM ID
PGAM2 612931
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Glycogen Storage Disease Type X AR 261670


  • Human Gene Mutation Database (Bio-base).
  • Joshi P.R. et al. 2009. Acta Neuropathologica. 117:723-5. PubMed ID: 19322572
  • Naini A. et al. 2009. Archives of Neurology. 66: 394-8. PubMed ID: 19273759
  • Oh S.J. et al. 2006. Muscle & Nerve. 34 : 572-6. PubMed ID: 16881065
  • Salameh J. et al. 2013. Muscle & Nerve. 47: 138-40. PubMed ID: 23169535
  • Tonin P. et al. 2009. Neuromuscular Disorders. 19: 776-8. PubMed ID: 19783439
  • Tsujino S. et al. 1993. American Journal of Human Genetics. 52: 472-7. PubMed ID: 8447317


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

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard