Cone-Rod Dystrophy via the ADAM9 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
11069 ADAM9 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11069ADAM981479 81479(x2) $890 Order Options and Pricing

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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days 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).

Genetics

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). Autozygosity mapping in four consanguineous families with recessively inherited early-onset CRD identified ADAM9 is associated with arCRD. ADAM9 encoded membrane-anchored metalloprotease is one of the first ADAM (A Disintegrin And Metalloproteinase) family proteins to be identified and characterized (Guaiquil et al. 2009; Peduto et al. 2005). ADAM proteins are involved in wide range of physiological processes therefore been associated with various diseases, including cancers. ADAM9 is shown to be up-regulated in mouse models for prostate, breast, and intestinal carcinoma, which suggests its role in tumorigenesis (Micocci et al. 2013; Peduto et al. 2005). Mouse mutant studies have shown that the absence of ADAM9 compromises the contact between photoreceptor outer segments (POSs) and the RPE apical surface and leads to retinal degeneration (Parry et al. 2009). This abnormal gap at the POS-RPE junction suggests the ADAM proteins have a role in adhesion and fusion processes by binding to integrins (Zigrino et al. 2010; Guaiquil et al. 2009). Mouse model studies suggest that ADAM9 has a critical role in the development of pathological neovascularization in the retina and choroid (Guaiquil et al. 2010). There are about five known pathogenic variations in ADAM9, which are associated with autosomal recessive cone-rod dystrophy (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Direct sequencing of ADAM9 in pedigrees of three CORD9-linked families identified mutations in affected individuals, which were absent in over 100 ethnically matched controls (Parry et al. 2009).

Testing Strategy

This test provides full coverage of all coding exons of the ADAM9 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. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ADAM9.

Gene

Official Gene Symbol OMIM ID
ADAM9 602713
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Cone-Rod Dystrophy 9 612775

Citations

  • Guaiquil V, Swendeman S, Yoshida T, Chavala S, Campochiaro PA, Blobel CP. 2009. ADAM9 Is Involved in Pathological Retinal Neovascularization. Molecular and Cellular Biology 29: 2694–2703. PubMed ID: 19273593
  • Guaiquil VH, Swendeman S, Zhou W, Guaiquil P, Weskamp G, Bartsch JW, Blobel CP. 2010. ADAM8 is a negative regulator of retinal neovascularization and of the growth of heterotopically injected tumor cells in mice. Journal of Molecular Medicine 88: 497–505. PubMed ID: 20119708
  • Hamel CP. 2007. Cone rod dystrophies. Orphanet J Rare Dis 1;2:7. PubMed ID: 17270046
  • Human Gene Mutation Database (Bio-base).
  • Micocci KC, Martin ACBM, Montenegro C de F, Durante AC, Pouliot N, Cominetti MR, Selistre-de-Araujo HS. 2013. ADAM9 silencing inhibits breast tumor cell invasion in vitro. Biochimie 95: 1371–1378. PubMed ID: 23499592
  • Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, et al. 2009. Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice. The American Journal of Human Genetics 84: 683–691. PubMed ID: 19409519
  • Peduto L, Reuter VE, Shaffer DR, Scher HI, Blobel CP. 2005. Critical function for ADAM9 in mouse prostate cancer. Cancer research 65: 9312–9319. PubMed ID: 16230393
  • Zigrino P, Nischt R, Mauch C. 2010. The Disintegrin-like and Cysteine-rich domains of ADAM-9 Mediate Interactions between Melanoma Cells and Fibroblasts. Journal of Biological Chemistry 286: 6801–6807. PubMed ID: 21135106

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


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.
Total Price: $
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