Congenital Limb Malformation Panel
Summary and Pricing
Test MethodExome Sequencing with CNV Detection
|Test Code||Test Copy Genes||Gene CPT Codes Copy CPT Codes|
|5065||ARHGAP31||81479,81479||Order Options and Pricing|
|Test Code||Test Copy Genes||Panel CPT Code||Gene CPT Codes Copy CPT Code||Base Price|
|5065||Genes x (72)||81479||81307, 81405, 81406, 81407, 81408, 81479||$1030||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 limb malformation refers to both gross reduction defects and more subtle alterations in the number, length, and anatomy of the legs, arms, and digits. The prevalence is ~ 1 in 500 to 1 in 1,000 live births (Wilkie. 2003. PubMed ID: 12587917). Congenital limb malformation includes many conditions such as: preaxial/postaxial polydactyly of the foot/hand (Burger et al. 2017. PubMed ID: 28946786), brachydactyly, and limb hypoplasia-reduction (Bonafe et al. 2015. PubMed ID: 26394607).
This panel includes 72 genes associated with a variety of genetic congenital limb malformations (Wilkie. 2003. PubMed ID: 12587917; Bonafe et al. 2015. PubMed ID: 26394607). Genetic limb malformations are genetically heterogenous and can be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) manner.
This panel offers testing for the following and many other conditions: Brachydactyly, Ectrodactyly, Polydactyly, Syndactyly, Symphalangism, Townes-Brocks branchiootorenal-like syndrome, Duane-radial ray syndrome, Fanconi anemia, Pallister-Hall syndrome, Split-hand/foot malformation, some subtypes of Meckel syndrome, Holt-Oram syndrome, Robinow syndrome, Liebenberg syndrome, TP63-related conditions, Liebenberg syndrome, Keutel Syndrome, Smith McCort Dysplasia, Yunis-Varon Syndrome, Camptomelic Dysplasia, and Feingold syndrome 1.
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 Anomalies. Among them, 13/199 cases had a copy number variation on 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 performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 99.5% 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.
Some genes have multiple copies in the haploid genome. In these cases, we may only analyze a portion of these genes.
Other genes without full coverage include, but may not be limited to: CEP290, CHSY1, DOCK6, FMN1, LRP4, NIPBL, NOTCH1, FANCD2, SALL1, SALL4, SHH, SF3B4, FBXW4, SHH, SOX9, RPGRIP1L, and RBM8A. A full list of regions not covered by NGS or Sanger sequencing is available upon request.
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 limb defects should be considered.
Patients with limb defects 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.