Polydactyly and Syndactyly Panel
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 13099 | Genes x (231) | 81479 | 81403(x1), 81404(x2), 81405(x3), 81406(x6), 81407(x4), 81408(x2), 81479(x444) | $1590 | 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.
Clinical Features and Genetics
Clinical Features
Congenital polydactyly (also known as hyperdactyly or hexadactyly) is defined as extra fingers or toes. It is one of the most common limb birth defects with an estimated incidence of one in 700–1,000 live births (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795; Ahmed et al. 2017. PubMed ID: 29263957). It is mainly a failure in the control of digit number at cellular and developmental levels (Malik. 2014. PubMed ID: 24020795). It may manifest isolated (non-syndromic) or as part of many syndromic conditions. Polydactyly can be further divided as preaxial (radial), central (axial), and postaxial (ulnar) (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795).
Congenital syndactyly is defined as joined fingers or toes by soft tissue or by bone. Syndactyly has an estimated incidence of 1 in 2,000 to 3,000 live births. This condition is caused by failed separation during embryonic development (Ahmed et al. 2017. PubMed ID: 29263957; Tonkin. 2009. PubMed ID: 19380059). It may manifest as an isolated (non-syndromic) case or as part of more than 300 syndromic conditions. Syndactyly can present as unilateral/bilateral, finger/toe; complete or partial (Malik. 2012. PubMed ID: 22333904; Deng and Tan. 2015. PubMed ID: 26069458; Tonkin. 2009. PubMed ID: 19380059).
Molecular genetic testing is advantageous to establish an accurate diagnosis for individuals with a variety of syndactyly and polydactyly conditions. Co-features of many of these conditions may require medical attention.
Genetics
This panel combines genes associated with a variety of genetic syndactyly and polydactyly disorders that have been identified through literature, OMIM, and HGMD searches. The patterns of inheritance can be autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) (Al-Qattan. 2019. PubMed ID: 31637260; Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795). Examples include Split-hand/foot malformation (also known as ectrodactyly), FGFR2-related conditions (Apert syndrome, LADD syndrome, and Saethre-Chotzen syndrome), HOXD13-related Syndactyly/polydactyly, Robinow syndrome, TP63-related conditions, Lenz-Majewski hyperostotic dwarfism, Temtamy preaxial brachydactyly syndrome, Squalene synthase deficiency, Filippi syndrome, Roberts syndrome, Metacarpal 4-5 fusion, Bartsocas-Pappas syndrome, Cenani-Lenz syndactyly syndrome, GLI3-related conditions, GLI1-related polydactyly, DHCR7-related Smith-Lemli-Opitz syndrome, and Acrocallosal syndrome.
See individual gene test descriptions for information on molecular biology of gene products, and spectra of pathogenic variants.
Clinical Sensitivity - Sequencing with CNV PGxome
In one study, pathogenic variants were found in 18% (36/199) of patients with a genetic etiology of congenital upper limb defects. Among them, 13/199 cases had a copy number variation at the chromosomal level, and 23/199 cases were found to have a pathogenic variant involving a single nucleotide substitution, or small deletion/insertion (Carli et al. 2013. PubMed ID: 24343878).
This test is able to detect both large copy number variation (large deletions and insertions) (CNV) as well as smaller sequence variants (SNVs) with high analytical sensitivity.
Testing Strategy
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 98.9% 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
Patients with polydactyly and syndactyly should be considered.
Patients with polydactyly and syndactyly should be considered.
Genes
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
Related Tests
| Name |
|---|
| PGxome® |
| Congenital Limb Malformation Panel |
| Polydactyly Panel |
| Short Rib Skeletal Dysplasia Panel |
| Syndactyly Panel |
Citations
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
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...
×
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.