DNA icon

Juvenile Paget Disease via the TNFRSF11B 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
TNFRSF11B 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8939TNFRSF11B81479 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. 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.


Genetic Counselors


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Juvenile Paget disease (JPD, OMIM#239000) is a rare osteopathy characterized by rapidly remodeling woven bone, osteopenia, fractures, and progressive skeletal deformity (Whyte et al. New Eng J Med 347:175-184, 2002). Deafness and sometimes retinopathy also occur.


Juvenile Paget disease (JPD) is inherited in an autosomal recessive manner. The only molecular defect known to cause JPD are variants in TNFRSF11B, the gene that encodes osteoprotegerin (Whyte et al. J Bone Miner Res 22:938-946, 2007). Osteoprotegerin (OPG) suppresses bone turnover by functioning as a decoy receptor for the osteoclast differentiation factor (also called RANK ligand). Most JPD patients have diminished OPG inhibition of osteoclastogenesis. Distinct genotype-phenotype relationships have been reported (Chong et al. J Bone Miner Res 18:2095-2104, 2003). Missense variants in the cysteine residues, predicted to cause major disruption to the ligand-binding region, were associated with a severe phenotype in which deformity developed before 18 months of age and caused major disability. Non-cysteine missense variants in the ligand-binding domain were associated with an intermediate phenotype, with deformity recognized around the age of 5 years and an increased rate of long bone fracture. Frameshift variants in exon 5 (last exon) were associated with the mildest phenotype.

Clinical Sensitivity - Sequencing with CNV PGxome

JPD is a rare condition, and analysis of a large series of patients for this disorder has not been published. Chong et al. studied 8 patients with JPD and identified homozygous TNFRSF11B variants in 5 of them (Chong et al. J Bone Miner Res 18:2095-2104, 2003).

Testing Strategy

This test provides full coverage of all coding exons of the TNFRSF11B 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

Candidates for this test are patients with features consistent with JPD and family members of patients who have known TNFRSF11B variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TNFRSF11B.


Official Gene Symbol OMIM ID
TNFRSF11B 602643
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Hyperphosphatasemia With Bone Disease AR 239000

Related Tests

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


  • Chong, B., et.al. (2003). "Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype." J Bone Miner Res 18(12): 2095-104. PubMed ID: 14672344
  • Whyte, M. P., et.al. (2002). "Osteoprotegerin deficiency and juvenile Paget's disease." N Engl J Med 347(3): 175-84. PubMed ID: 12124406


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