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Paget Disease of Bone via the SQSTM1 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
SQSTM1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7217SQSTM181479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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 inherited or 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, the 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. Variants in SQSTM1 have been reported to account for 20–50% of familial cases and 5–20% of sporadic cases (Eekhoff et al. Arthritis Rheum 50:1650–1654, 2004; Laurin et al. Am J Hum Genet 70: 1582–1588, 2002; Hocking et al. Hum Mol Genet 11:2735–2739, 2002; Beyens et al. Calcif Tissue Int 75:144–152, 2004; Cundy et al. Calcif Tissue Int 2011 July 7 epub). Although different types of variants have been reported, including missense, nonsense, splice site, and frameshift variants, loss of ubiquitin binding is the unifying mechanism by which SQSTM1 variants cause this disease (Cavey et al. Calcif Tissue Int 78:271-277, 2006; Daroszewska et al. Hum Mol Genet 20:2734–2744, 2011). Patients with SQSTM1 variants have severe PDB and a high degree of penetrance with increasing age (Ralston et al. 2008). A minority of PDB cases are caused by variant in the TNFRSF11A gene, which encodes the receptor activator of NFκB (RANK), a protein essential in osteoclast formation (see Test #854 for more information).

Clinical Sensitivity - Sequencing with CNV PG-Select

This test is predicted to detect disease variants in 20–50% of familial cases and 5–20% of sporadic cases with PDB (Eekhoff et al. 2004; Laurin et al. 2002; Hocking et al. 2002; Beyens et al. 2004; Cundy et al. 2011).

Testing Strategy

This test provides full coverage of all coding exons of the SQSTM1 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 with features consistent with PDB and family members of patients who have a known SQSTM1 variant.


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


Name Inheritance OMIM ID
Osteitis Deformans AD 602080

Related Tests

Juvenile Paget Disease via the TNFRSF11B Gene
Osteopetrosis via the CLCN7 Gene
Osteopetrosis via the OSTM1 Gene
Osteopetrosis via the SNX10 Gene
Osteopetrosis via the TCIRG1 Gene
Osteopetrosis via the TNFSF11 Gene
Paget Disease of Bone (PDB) Panel
Paget Disease of Bone, Autosomal Recessive Osteopetrosis, and Familial Expansile Osteolysis via the TNFRSF11A Gene


  • Beyens, G., et.al. (2004). PubMed ID: 15164150
  • Cavey, J. R., et.al. (2006). PubMed ID: 16691492
  • Cundy, T., et.al. (2011). PubMed ID: 21735147
  • Daroszewska, A., et.al. (2011). PubMed ID: 21515589
  • Eekhoff, E. W., et.al. (2004). PubMed ID: 15146436
  • Hocking, L. J., et.al. (2002). PubMed ID: 12374763
  • Laurin, N., et.al. (2002). PubMed ID: 11992264
  • Michou, L., et.al. (2006). PubMed ID: 16574459
  • Ralston, S. H., et.al. (2008). 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

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View Ordering Instructions

1) Select Test Method (Platform)

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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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