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Cone-Rod Dystrophy via the DRAM2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
10443 DRAM2 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10443DRAM281479 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Cone-rod dystrophy (CORD/CRD) is a rare hereditary retinal disorder with a worldwide prevalence of ~1 in 40,000. CRD is characterized by dysfunction or degeneration of cone photoreceptors with relative preservation of rod function in the initial stages. The most common symptoms are photophobia and epiphora in bright light, decreased visual acuity, and dyschromatopsia. Fundus changes may vary from mild pigment granularity to a distinct atrophic lesion in the central macula. As the disease progresses, degeneration of rod photoreceptors also occurs and leads to progressive night blindness and peripheral visual field loss (Hamel. 2007. PubMed ID: 17270046).

Genetics

Non syndromic CRD is genetically heterogeneous and exhibits autosomal dominant (AD), autosomal recessive (AR) and, rarely, X-linked (XL) inheritance (Hamel. 2007. PubMed ID: 17270046). To date, over 25 genes have been implicated in different forms of CRD (RetNet). Due to the genetic heterogeneity, screening of all the CRD-associated genes is recommended. Most of the CRD-associated genes are also involved in other types of retinal dystrophies such as Retinitis Pigmentosa, macular dystrophies and cone dystrophies. Many of these genes encode proteins that have major roles in disc morphogenesis and the membrane- trafficking of photoreceptors (Sung and Chuang. 2010. PubMed ID: 20855501).

Bi-allelic pathogenic variants in DRAM2 cause adult-onset cone rod dystrophy with early macular involvement and associated central visual loss in the third or fourth decade of life (El-Asrag et al. 2015. PubMed ID: 25983245). Patients with DRAM2 cone rod dystrophy are typically asymptomatic in the first two decades of life (Sergouniotis et al. 2015. PubMed ID: 26720460). DRAM2 is a lysosomal protein expressed in both photoreceptor and retinal pigment epithelial cells (El-Asrag et al. 2015. PubMed ID: 25983245). DRAM2, unlike DRAM (damage-regulated autophagy modulator)-related proteins is not induced by p53 or p73. However, it remains possible that DRAM2 may still be a modulator of autophagy, perhaps in response to other stimuli (O'Prey et al. 2009. PubMed ID: 19556885; Crighton et al. 2006. PubMed ID: 16839881). DRAM2 might be involved in the process of photoreceptor renewal and recycling to preserve visual function (El-Asrag et al. 2015. PubMed ID: 25983245). To date, ~10 pathogenic variants (missense, nonsense and small in-frame and frameshift deletions) have been documented causative (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity and limited number of reported cases, it is difficult to predict clinical sensitivity. Analytical sensitivity should be high as all reported pathogenic variants are detectable by sequencing.

To date, no copy number variants have been documented causative in this gene (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the DRAM2 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 adult-onset Cone-rod dystrophy are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DRAM2.

Gene

Official Gene Symbol OMIM ID
DRAM2 613360
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Cone-Rod Dystrophy 21 AR 616502

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Citations

  • Crighton et al. 2006. PubMed ID: 16839881
  • El-Asrag et al. 2015. PubMed ID: 25983245
  • Hamel. 2007. PubMed ID: 17270046
  • Human Gene Mutation Database (Bio-base).
  • O'Prey et al. 2009. PubMed ID: 19556885
  • RetNet: Genes and Mapped Loci Causing Retinal Diseases.
  • Sergouniotis et al. 2015. PubMed ID: 26720460
  • Sung and Chuang. 2010. PubMed ID: 20855501

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

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View Ordering Instructions

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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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