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Autosomal Dominant Cone-Rod Dystrophy via the RIMS1 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
RIMS1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11621RIMS181479 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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.


Genetic Counselors


  • 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).


Non syndromic CRD is genetically heterogeneous and exhibits autosomal dominant (ad), autosomal recessive (ar) and, rarely, X-linked (xl) inheritance (Hamel 2007). So far about 25 genes have been implicated in different forms of CRD (RetNet). Mutations in the RIMS1 gene on 6q are a cause of autosomal dominant cone-rod dystrophy. In a RIMS1 mutation analysis in a four generation, non-consanguineous British family, all cone-rod dystrophy affected patients had the familial RIMS1 mutation (Michaelides 2005). Interestingly, RIMS1-associated cone-rod dystrophy (CORD7) affected individuals have been reported to show significantly enhanced cognitive abilities (Miki et al. 2007). RIMS1 encodes a photoreceptor synaptic protein. RIMS1 (also known as RIM1- Rab3A interacting molecule) is one of the presynaptic proteins that appear during early stages of photoreceptor synaptogenesis along with other presynaptic proteins Bassoon, Piccolo, and RIBEYE (Regus-Leidig et al. 2009). RIMS1 has been shown to be expressed in brain and the photoreceptors of the retina, specifically in the active zones in pre-synaptic ribbons of ribbon synapses. The photoreceptor ribbon synapse is a highly specialized glutamatergic synapse, which is responsible for the continuous flow of synaptic vesicles to the neurotransmitter release site. RIMS1 has been reported to help in tethering of active zones to VDCCs (voltage-gated Ca2+ channel) and contributes to synaptic vesicle release as well as long- and short-term presynaptic plasticity (Johnson et al. 2003; Michaelides 2005; Kiyonaka et al. 2007; Mittelstaedt et al. 2010; Pernía-Andrade and Jonas 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity cannot be precisely estimated because only a small number of patients have been reported. However, this indicates that RIMS1 is a relatively uncommon cause of cone-rod dystrophies. Analytical sensitivity should be high because all mutations reported are detectable by this method. No gross deletions or duplications have been reported so far (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the RIMS1 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 Cone-rod dystrophy, particularly those from families showing autosomal dominant inheritance.


Official Gene Symbol OMIM ID
RIMS1 606629
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Cone-Rod Dystrophy 7 603649


  • Hamel CP. 2007. Cone rod dystrophies. Orphanet J Rare Dis 1;2:7. PubMed ID: 17270046
  • Human Gene Mutation Database (Bio-base).
  • Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM. 2003. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). Genomics 81: 304–314. PubMed ID: 12659814
  • Kiyonaka S, Wakamori M, Miki T, Uriu Y, Nonaka M, Bito H, Beedle AM, Mori E, Hara Y, Waard M De, Kanagawa M, Itakura M, et al. 2007. RIM1 confers sustained activity and neurotransmitter vesicle anchoring to presynaptic Ca2+ channels. Nat Neurosci 10: 691–701. PubMed ID: 17496890
  • Michaelides M. 2005. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. British Journal of Ophthalmology 89: 198–206. PubMed ID: 15665353
  • Miki T, Kiyonaka S, Uriu Y, Waard M De, Wakamori M, Beedle AM, Campbell KP, Mori Y. 2007. Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels. Channels (Austin) 1: 144–147. PubMed ID: 18690027
  • Mittelstaedt T, Alvaréz-Baron E, Schoch S. 2010. RIM proteins and their role in synapse function. Biol. Chem. 391: 599–606. PubMed ID: 20370319
  • Pernía-Andrade A, Jonas P. 2011. The Multiple Faces of RIM. Neuron 69: 185–187. PubMed ID: 21262457
  • Regus-Leidig H, Tom Dieck S, Specht D, Meyer L, Brandstätter JH. 2009. Early steps in the assembly of photoreceptor ribbon synapses in the mouse retina: the involvement of precursor spheres. J. Comp. Neurol. 512: 814–824. PubMed ID: 19067356


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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