Summary and Pricing
Test MethodExome Sequencing with CNV Detection
|Test Code||Test Copy Genes||Gene CPT Codes Copy CPT Codes|
|13051||AHI1||81407,81479||Order Options and Pricing|
|Test Code||Test Copy Genes||Panel CPT Code||Gene CPT Codes Copy CPT Code||Base Price|
|13051||Genes x (140)||81479||81403, 81404, 81405, 81406, 81407, 81408, 81479||$1630||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 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 1.6–10.7/1,000 or 0.3–3.6/1000 (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 polydactyly (axial), and postaxial (ulnar) polydactyly (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795).
Molecular genetic testing is advantageous to establish an accurate diagnosis for individuals with a variety of polydactyly conditions.
This panel includes genes associated with polydactyly 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) (Umair et al. 2018. PubMed ID: 30459804; Malik. 2014. PubMed ID: 24020795).
This panel tests for many congenital non-syndromic and syndromic related polydactyly conditions such as GLI3-related conditions, GLI1-related polydactyly, HOXD13-related polydactyly, Joubert syndrome, Orofaciodigital syndrome, DHCR7-related Smith-Lemli-Opitz syndrome, Short-rib thoracic dysplasia 3 with or without polydactyly, LADD 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 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 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.
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 polydactyly should be considered.
Patients with polydactyly should be considered.
|Bardet-Biedl Syndrome (BBS) Panel|
|Congenital Limb Malformation Panel|
|Short Rib Skeletal Dysplasia Panel|
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.