Osteogenesis Imperfecta via the WNT1 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
8911 WNT1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8911WNT181479 81479(x2) $890 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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal disorder characterized by frequent bone fractures with or without minimal trauma. Clinical signs of OI can range from mild to severe. In addition to bone fractures, patients may have scoliosis, bowing of long bones, short stature, blue sclera, hearing loss, dentin defects, muscle weakness or joint laxity. The incidence is approximately 6-7/100,000 (van Dijk et al. 2012). Approximately 90% of clinically diagnosed OI is caused by pathogenic variants in the COL1A1 and COL1A2 genes, while ~10% is caused by pathogenic variants in the CRTAP, FKB10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, WNT1, IFITM5, BMP1, TMEM38B and other undefined genes (van Dijk et al. 2012; Valadares et al. 2014).

Genetics

Pathogenic variants in the WNT1 gene mainly cause autosomal recessive type XV OI, a severe form of OI, which is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. However, a heterozygous variant (c.703C>T, p.Arg235Trp) was also found in an autosomal dominant OI family, in addition, at least one heterozygous carrier father (c.859dupC ,p.His287Profs*30) of a recessive OI case showed signs of early-onset osteoporosis at the age of 42 (Keupp et al. 2013). The WNT1 protein belongs to Wnt protein family, which severs as key regulator of osteoblast activity. To date, more than 15 unique causative pathogenic variants have been identified. They are: nonsense (4), missense (6), splicing (1) and small deletions and insertions (5). There are no reported large deletions /duplications (Pyott et al. 2013; Keupp et al. 2013).

Clinical Sensitivity - Sequencing with CNV PGxome

WNT1 pathogenic variants were reported in 5 out of 12 OI families in which no pathogenic variants in other OI-related genes were found (Keupp et al. 2013).

Testing Strategy

This test provides full coverage of all coding exons of the WNT1 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 symptoms consistent with autosomal recessive OI type XV/autosomal dominant OI and the family members of patients who have known WNT1 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in WNT1.

Gene

Official Gene Symbol OMIM ID
WNT1 164820
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Osteogenesis Imperfecta, Type XV AD,AR 615220

Related Tests

Name
Osteogenesis Imperfecta via the BMP1 Gene
Osteogenesis Imperfecta via the CRTAP Gene
Osteogenesis Imperfecta via the FKBP10 Gene
Osteogenesis Imperfecta via the IFITM5 Gene
Osteogenesis Imperfecta via the P3H1 / LEPRE1 Gene
Osteogenesis Imperfecta via the SERPINF1 Gene
Osteogenesis Imperfecta via the SERPINH1 Gene
Osteogenesis Imperfecta via the SP7 Gene
Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene

Citations

  • Keupp et al. 2013. PubMed ID: 23499309
  • Pyott S.M. et al. 2013. American Journal of Human Genetics. 92: 590-7. PubMed ID: 23499310
  • Valadares ER. et al. 2014. Jornal De Pediatria. 90: 536-41. PubMed ID: 25046257
  • van Dijk FS. et al. 2012. European Journal of Human Genetics : Ejhg. 20: 11-9. PubMed ID: 21829228

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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