Achromatopsia (ACHM) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10215 ATF6 81479,81479 Order Options and Pricing
CNGA3 81479,81479
CNGB3 81479,81479
GNAT2 81479,81479
PDE6C 81479,81479
PDE6H 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10215Genes x (6)81479 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disorder characterized by total color blindness, decreased visual acuity (lower than 20/200), photophobia , nystagmus, and absence of cone-mediated electroretinographic amplitudes at birth or early infancy (Kohl et al. 2005. PubMed ID: 15657609; Kohl et al. 2015. PubMed ID: 26029869; Pang et al. 2010. PubMed ID: 20238068). Estimated prevalence is 1/30,000 (Kohl et al. 2002. PubMed ID: 12077706).

With the advent of gene therapy and other types of treatments, the identification of causative genes and variants is becoming increasingly important.

Please see the links for clinical trials and management options below:

Management

ACHM Clinical trials

Genetics

ACHM is a heterogeneous disorder. Pathogenic variants in CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and ATF6 have been reported to be causative for autosomal recessive ACHM (Ouechtati et al. 2011. PubMed ID: 21107338; Greenberg et al. 2014. PubMed ID: 24504161; Ansar et al. 2015. PubMed ID: 26063662). CNGA3 and CNGB3 are the major causative genes for ACHM, and account for 20-30% and 40-50% of the cases, respectively (Kohl et al. 2005. PubMed ID: 15657609; Wissinger et al. 2001. PubMed ID: 11536077). A frameshift protein truncating variant in CNGB3 (c.1148del, p.Thr383Ilefs*13) has been reported as a predominant pathogenic variant (Kohl et al. 2005. PubMed ID: 15657609; Nishiguchi et al. 2005. PubMed ID: 15712225; Wiszniewski et al. 2007. PubMed ID: 17265047). This variant has been reported at a frequency of 0.2% in general population (gnomAD).A large deletion has been reported only in GNAT2 so far (Kohl et al. 2002. PubMed ID: 12077706; Human Gene Mutation Database). To our knowledge, de novo variants have not been documented causative in the genes associated with ACHM (HGMD-Human Gene Mutation Database).

The proteins encoded by the genes in this panel form the functional cGMP-gated cation channel that is essential for the phototransduction cascade in photoreceptors (Nishiguchi et al. 2005. PubMed ID: 15712225).

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Please see the following table for information regarding clinical sensitivity (Thiadens et al. 2009. PubMed ID: 19615668; Wissinger et al. 2001. PubMed ID: 11536077; Kohl et al. 2002. PubMed ID: 12077706; Kohl et al. 2005. PubMed ID: 15657609; Kohl et al. 2012. PubMed ID: 22901948; Kohl et al. 2015. PubMed ID: 20301591).

Gene Approximate Clinical Sensitivity
CNGA3 20 - 30%
CNGB3 40 - 50%
GNAT2 2%
PDE6C 2%
PDE6H 0.3%
ATF6 ~1% (specifically in European-ancestry individuals)

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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 coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Patients with normal rod response and absence of cone response in ERG findings.

Genes

Official Gene Symbol OMIM ID
ATF6 605537
CNGA3 600053
CNGB3 605080
GNAT2 139340
PDE6C 600827
PDE6H 601190
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Ansar et al. 2015. PubMed ID: 26063662
  • Greenberg et al. 2014. PubMed ID: 24504161
  • Human Gene Mutation Database (Bio-base).
  • Kohl et al. 2002. PubMed ID: 12077706
  • Kohl et al. 2005. PubMed ID: 15657609
  • Kohl et al. 2012. PubMed ID: 22901948
  • Kohl et al. 2015. PubMed ID: 20301591
  • Nishiguchi et al. 2005. PubMed ID: 15712225
  • Ouechtati et al. 2011. PubMed ID: 21107338
  • Pang et al. 2010. PubMed ID: 20238068
  • Thiadens et al. 2009. PubMed ID: 19615668
  • Wissinger et al. 2001. PubMed ID: 11536077
  • Wiszniewski et al. 2007. PubMed ID: 17265047

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.

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

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ORDER OPTIONS

View Ordering Instructions

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.

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