Leber Congenital Amaurosis 13 (LCA13), Retinitis Pigmentosa 53 (RP53) and Early Onset Cone-Rod Dystrophy (CORD) via the RDH12 Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 7803 | RDH12 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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
Leber Congenital Amaurosis 13, Retinitis Pigmentosa 53 (LCA13 or RP53, OMIM 612712) and EarlyOnset Cone-Rod Dystrophy (CORD) are characterized by severe yet progressive rod-cone dystrophy with severe macular atrophy and absent or mild hyperopia, with some degree of phenotypic variability. Affected individuals show typical bone spicule-type pigment deposits, attenuation of the retinal arterioles, and pale appearance of the optic disc during funduscopic examination (Benayoun L et al. Am J Med Genet 149A: 650-656, 2009). LCA affects 3 per 100,000 newborn babies worldwide and has been described in various ethnic groups. Patients with LCA represent ~ 5% of all retinal dystrophies (Perrault I et al. Mol Genet Metab 68(2): 200-2088, 1999).
Genetics
LCA represents the most common genetic cause of congenital visual impairments in infants and adolescents. It is usually inherited in an autosomal recessive manner, although in several families LCA is transmitted as an autosomal dominant trait (Rivolta et al. Hum Mutat 18(6): 488-498, 2001). Sporadic patients with LCA were also reported (Hanein et al. Hum Mutat 23(4): 306-317, 2004). LCA is genetically and clinically heterogeneous. Currently, mutations in seventeen genes account for ~70% of all cases (den Hollander et al. Prog Retin Eye Res 27(4): 391-419, 2008; Weleber et al. GeneReviews, 2013). The phenotype of LCA patients with RDH12 mutations may be distinguished by a progressive course and absent or mild hyperopia, suggesting a possible genotype-phenotype correlation (Perrault et al. Am J Hum Genet 75(4): 639-646, 2004). The RDH12 gene encodes a retinol dehydrogenase. Unlike RPE65, RDH12 is predominantly expressed in photoreceptor cells and might play a major role in the formation of 11-cis retinaldehyde during regeneration of cone visual pigments (Haeseleer et al. Nat Neurosci 7(10):1079-1087, 2004). Over 60 different RDH12 mutations have been reported to date. They include missense, nonsense, splicing, and small deletions and insertions. Both homozygous and compound heterozygous mutations have been reported. A novel mutation in RDH12 was documented as causative for autosomal dominant retinitis pigmentosa (ADRP), characterized by a late onset and relatively mild severity, which is dramatically significant from other diseases associated with this gene. Approximately 14 genes have been associated with ADRP and RDH12 is considered the top candidate (Fingert et al. Arch Ophthalmol 126(9): 1301-1307, 2008).
Clinical Sensitivity - Sequencing with CNV PG-Select
This test allows the detection of mutations in ~ 4% of patients with LCA (Perrault I et al. Am J Hum Genet 75(4): 639-646, 2004).
One gross deletion has been reported in RDH12 thus far (Neveling K et al. Hum Mutat 33(6):963-972, 2012).
Testing Strategy
This test provides full coverage of all coding exons of the RDH12 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
LCA, congenital severe yet progressive cone-rod dystrophy and ADRP patients are candidates. Family members of patients with known RDH12 mutations are also candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in RDH12.
LCA, congenital severe yet progressive cone-rod dystrophy and ADRP patients are candidates. Family members of patients with known RDH12 mutations are also candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in RDH12.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| RDH12 | 608830 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Leber Congenital Amaurosis 13 | AR | 612712 |
Related Tests
Citations
- Benayoun L. et al. (2009). "Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping." Am J Med Genet 149A: 650-656. PubMed ID: 19140180
- den Hollander AI, Roepman R, Koenekoop RK, Cremers FPM. 2008. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 27: 391–419. PubMed ID: 18632300
- Fingert, J. H., et.al. (2008). "Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa." Arch Ophthalmol 126(9): 1301-1307. PubMed ID: 18779497
- Haeseleer F, Imanishi Y, Maeda T, Possin DE, Maeda A, Lee A, Rieke F, Palczewski K. 2004. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Nat Neurosci. 7:1079-1087. PubMed ID: 15452577
- Hanein, S., et.al. (2004). "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis." Hum Mutat 23(4): 306-317. PubMed ID: 15024725
- Neveling K et al. (2012). "Next-generation genetic testing for retinitis pigmentosa." Hum Mutat 33(6):963-972. PubMed ID: 22334370
- Perrault I. et al. (1999). "Leber congenital amaurosis." Mol Genet Metab 68(2): 200-208. PubMed ID: 10527670
- Perrault I. et.al. (2004). "Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis." Am J Hum Genet 75(4): 639-646. PubMed ID: 15322982
- Rivolta, C. et.al. (2001). "Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX." Hum Mutat 18(6): 488-498. PubMed ID: 11748842
- Weleber RG, Francis PJ, Trzupek KM, Beattie C. 2013. Leber Congenital Amaurosis. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301475
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
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