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Achromatopsia 6 or Retinal Cone Dystrophy 3 via the PDE6H 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
7961 PDE6H 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7961PDE6H81479 81479,81479 $890 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 backbone).

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

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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

Achromatopsia is a congenital cone rod dystrophy (CRD) that can be distinguished from other CRDs on the basis of primary cone involvement, stationary course, and normal fundus (Hamel. 2007. PubMed ID: 17270046). Two clinical types of achromatopsia, complete and incomplete, are recognized. In patients with complete achromatopsia, symptoms usually begin in infancy and include nystagmus, low visual acuity, photophobia, severe color vision defects, and selective absence of functioning cone photoreceptor cells in electroretinogram (ERG) findings. Patients with incomplete achromatopsia retain residual functioning cone cells. In addition, they have mild visual acuity and mild color vision defects. The prevalence of complete achromatopsia is 1 per 30,000 people worldwide (Michaelides et al. 2004. PubMed ID: 14736794). However, in Micronesian atoll of Pingelap, achromatopsia affects ~5% of the island population (Morton et al. 1972. PubMed ID: 4537352).

PDE6H-associated retinal disorder is characterized as cone dystrophy with nyctalopia and supernormal rod responses (Piri et al. 2005. PubMed ID: 15629837).

Genetics

Achromatopsia is a heterogeneous genetic disease that is inherited in an autosomal recessive manner. It is caused by defects in various genes that encode important elements of the cone phototransduction process (Chang et al. 2009. PubMed ID: 19887631; Thiadens et al. 2009. PubMed ID: 19615668). PDE6H encodes the inhibitory γ-subunit of cone-specific cyclic guanosine monophosphate (cGMP)-phosphodiesterase (PDE) (Piri. 2005. PubMed ID: 15629837). To date, less than 5 PDE6H causative variants (nonsense) have been reported (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to genetic heterogeneity and the limited number of reported cases, the clinical sensitivity of PDE6H for cone disorders is not precisely known. However, pathogenic variants in PDE6H appear to be a rare cause of retinal disorders. So far, large deletions/duplications have not been documented in this gene (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the PDE6H 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

Patients with normal rod response and absence of cone response in ERG findings, and no pathogenic variants in the CNGB3, CNGA3 and GNAT2 genes (Kohl et al. 2016). This test may also be considered for the reproductive partners of carriers of PDE6H pathogenic variants.

Gene

Official Gene Symbol OMIM ID
PDE6H 601190
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Retinal Cone Dystrophy 3A AR 610024

Related Test

Name
Leber Congenital Amaurosis Panel

Citations

  • Chang et al. 2009. PubMed ID: 19887631
  • Hamel. 2007. PubMed ID: 17270046
  • Human Gene Mutation Database (Bio-base).
  • Kohl et al. 2016. PubMed ID: 20301591
  • Michaelides et al. 2004. PubMed ID: 14736794
  • Morton et al. 1972. PubMed ID: 4537352
  • Piri et al. 2005. PubMed ID: 15629837
  • Thiadens et al. 2009. PubMed ID: 19615668

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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