Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via the EFEMP1 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8341 | EFEMP1 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.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
Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) are autosomal dominant disorders and have phenotypic similarity with age-related macular degeneration (AMD). The hallmark feature of both ML and DHRD is early-onset drusen (yellow-white deposit) between the retinal pigment epithelium (RPE) and Bruch’s membrane, which is a typical AMD feature (Stone et al. 1999).
Genetics
Autosomal dominant ML and DHRD are due to a single pathogenic variant in the EFEMP1 gene, which encodes the epidermal growth factor containing fibrillin-like extracellular matrix protein 1 (also known as fibulin-3). This protein is expressed in the tissues that are closest to the site of drusen formation. Mutation screening showed that all affected families had the p.Arg345Trp variant, which was not present in 477 control individuals or in 494 patients with age-related macular degeneration (Stone et al. 1999). In another study, 14 unrelated individuals diagnosed with early onset of multiple drusen and no apparent family history of the disease, did not have p.Arg345Trp or any other EFEMP1 variant. These results suggest that EFEMP1 is not associated with other types of early onset drusen phenotypes or typical AMD (Sauer et al. 2001; Guymer et al. 2002; Narendran et al. 2005).
Clinical Sensitivity - Sequencing with CNV PGxome
A mutation screening showed that 99% of the ML and DHRD affected members (161 out of 162 affected patients in 37 families) had the EFEMP1 p.Arg345Trp variant, which was absent in 477 control individuals and in 494 unrelated patients with age-related macular degeneration. Out of 161,160 were heterozygotes and one patient was homozygous for the p.Arg345Trp variant. No difference was observed between the homozygous patient and heterozygotes of similar age. (Stone et al. 1999).
Testing Strategy
This test provides full coverage of all coding exons of the EFEMP1 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
All patients with symptoms suggestive of early onset drusen are candidates.
All patients with symptoms suggestive of early onset drusen are candidates.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| EFEMP1 | 601548 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Doyne Honeycomb Retinal Dystrophy | AD | 126600 |
Related Test
| Name |
|---|
| Flecked Retina Disorder Panel |
Citations
- Guymer RH, McNeil R, Cain M, Tomlin B, Allen PJ, Dip CL, Baird PN. 2002. Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration. Clin. Experiment. Ophthalmol. 30: 419–423. PubMed ID: 12427233
- Narendran N, Guymer RH, Cain M, Baird PN. 2005. Analysis of the EFEMP1 gene in individuals and families with early onset drusen. Eye 19: 11–15. PubMed ID: 15218514
- Sauer CG, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber BH. 2001. EFEMP1 is not associated with sporadic early onset drusen. Ophthalmic Genet. 22: 27–34. PubMed ID: 11262647
- Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF. 1999. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nature genetics 22: 199–202. PubMed ID: 10369267
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
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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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.