North Carolina Type Macular Dystrophy via the PRDM13 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 | |
|---|---|---|---|---|---|
| 15287 | PRDM13 | 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
North Carolina Macular Dystrophy (OMIM # 136550) is clinically characterized as decreased visual acuity, central scotomata, and drusen-like deposits in the central macular region with variable age of onset, from first decade to fourth or fifth decade of life (Small et al. 2016. PubMed ID: 26507665).
Genetics
North Carolina Macular Dystrophy (NCMD) is a rare autosomal dominant disorder. PRDM13 is a retinal transcription factor solely expressed in the neural retina and is an important regulator of human macular development (Small et al. 2016. PubMed ID: 26507665). Five variants in the upstream region of the PRDM13 gene (a DNAse hypersensitivity site) were reported to segregate in the 102 affected and 39 unaffected members of the 12 North Carolina macular dystrophy (NCMD) families (Small et al. 2016. PubMed ID: 26507665). Additionally, a 123kb tandem duplication containing the entire PRDM13 gene with some additional upstream and downstream regions was also reported in one NCMD family (Small et al. 2016. PubMed ID: 26507665).
Clinical Sensitivity - Sequencing with CNV PG-Select
Due to the genetic heterogeneity and phenotypic overlap, determining the clinical sensitivity is difficult. Analytical sensitivity should be high because all pathogenic variants reported are detectable by sequencing with CNV detection. Limited number of cases suggest that this gene is not a common cause of disease.
Testing Strategy
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This test provides full coverage of all coding exons of the PRDM13 gene 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 full coverage as >20X NGS reads or Sanger sequencing.
We will also test for the noncoding region variants that are documented causative in this gene.
Indications for Test
All patients with symptoms suggestive of North Carolina Macular Dystrophy are candidates.
All patients with symptoms suggestive of North Carolina Macular Dystrophy are candidates.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| PRDM13 | 616741 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|
Citations
- Small et al. 2016. PubMed ID: 26507665
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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.