Summary and Pricing
Test MethodExome Sequencing with CNV Detection
|Test Code||Test Copy Genes||Gene CPT Codes Copy CPT Codes|
|12683||AKT3||81479,81479||Order Options and Pricing|
|Test Code||Test Copy Genes||Panel CPT Code||Gene CPT Codes Copy CPT Code||Base Price|
|12683||Genes x (129)||81479||81403, 81404, 81405, 81406, 81407, 81479||$1690||Order Options and Pricing|
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 PGxome Custom Panel tool.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
18 days on average for standard orders or 14 days on average for STAT orders.
Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Congenital syndactyly is defined as joined fingers or toes by soft tissue or by bone. It is one of the most common limb birth defects with 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 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 conditions. Co-features of many of these conditions may require medical attention.
This panel includes genes associated with a variety of genetic syndactyly disorders that have been identified through literature, OMIM, and HGMD searches. The patterns of inheritance of the condition can be autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) (Al-Qattan. 2019. PubMed ID: 31637260). Examples include Split-hand/foot malformation (also known as ectrodactyly), FGFR2-related conditions (Apert syndrome, LADD syndrome, and Saethre-Chotzen syndrome), HOXD13-related Syndactyly, 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, and Cenani-Lenz syndactyly 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.
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 99.2% 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.
Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).
Indications for Test
Patients with syndactyly should be considered.
Patients with syndactyly should be considered.
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.
- 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.