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Paget Disease of Bone (PDB) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
SQSTM1 81479,81479
TNFRSF11A 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
7385Genes x (2)81479 81479(x4) $990 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

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).

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


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Paget disease of bone (PDB, OMIM#602080) is the second most common metabolic bone disorder affecting ~2% of the population aged >40 years. The disorder is characterized by focal areas of increased and disorganized bone turnover, leading to bone pain, deformity, pathological fracture, neurological complications, and an increased risk of osteosarcoma (Laurin et al. Am J Hum Genet 70:1582-1588, 2002). The axial skeleton is preferentially affected. Common sites of involvement include the pelvis (70% of cases), femur (55%), lumbar spine (53%), skull (42%), and tibia (32%) (Ralston et al. The Lancet 372:155-163, 2008). PDB can be both inherited and sporadic, with the inherited form accounting for about one-third of patients with PDB (Michou et al. Joint Bone Spine 73:243-248, 2006).


The familial form of PDB is inherited in an autosomal dominant manner with ~80% penetrance (Michou et al. Joint Bone Spine 73:243-248, 2006). At least 8 loci have been described in familial PDB cases by linkage studies, suggesting extensive genetic heterogeneity; however disease-causing genes within most of these loci have not yet been discovered. The most important gene underlying PDB is SQSTM1, which encodes a scaffold protein (Sequestosome 1) in the nuclear factor κB (NFκB) signaling pathway. Mutations in SQSTM1 have been reported to account for 20–50% of familial cases and 5–20% of sporadic cases (Ralston et al. The Lancet 372:155-163, 2008). A minority of PDB cases are caused by mutation in the TNFRSF11A gene, which encodes the receptor activator of NFκB (RANK), a protein essential in osteoclast formation.

Clinical Sensitivity - Sequencing with CNV PGxome

Mutations in SQSTM1 have been reported to account for 20–50% of familial cases and 5–20% of sporadic cases with PDB (Ralston et al. 2008). Sensitivity in familial PDB cases that are caused by TNFRSF11A mutations is currently unknown.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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 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

Candidates for this test are patients with features consistent with PDB.


Official Gene Symbol OMIM ID
SQSTM1 601530
TNFRSF11A 603499
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test



  • Guerrini, M. M., et.al. (2008). "Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations." Am J Hum Genet 83(1): 64-76. PubMed ID: 18606301
  • Hughes, A. E., et.al. (2000). "Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis." Nat Genet 24(1): 45-8. PubMed ID: 10615125
  • Laurin, N., et.al. (2002). "Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone." Am J Hum Genet 70(6): 1582-8. PubMed ID: 11992264
  • Michou, L., et.al. (2006). "Genetics of Paget PubMed ID: 16574459
  • Ralston, S. H., et.al. (2008). "Pathogenesis and management of Paget PubMed ID: 18620951


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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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.
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