Congenital Stationary Night Blindness Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
4319 CABP4 81479,81479 Order Options and Pricing
CACNA1F 81479,81479
CACNA2D4 81479,81479
CHM 81479,81479
GNAT1 81479,81479
GPR179 81479,81479
GRK1 81479,81479
GRM6 81479,81479
LRIT3 81479,81479
NYX 81479,81479
PDE6B 81479,81479
RDH5 81479,81479
RHO 81404,81479
RPE65 81406,81479
SAG 81479,81479
SLC24A1 81479,81479
TRPM1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4319Genes x (17)81479 81404, 81406, 81479 $930 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

Congenital Stationary Night Blindness (CSNB) is a retinal condition with negative bright-flash dark-adapted electroretinogram response, and optic atrophy or dysplastic changes, or both, in the optic nerve head. Typical findings of CSNB include impaired night vision, no pigmentary retinopathy, full visual fields consistent with myopia and strabismus, which appear from early childhood and are nonprogressive (Heckenlively et al. 1983. PubMed ID: 6605090; Nakamura et al. 2001. PubMed ID: 11381068). Early stages of retinitis pigmentosa (RP) and CSNB are difficult to distinguish (Chen et al. 2010. IOVS meeting abstract).

Genetics

Congenital Stationary Night Blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Pathogenic variants in ~20 genes have been shown to be associated with CSNB (Zeitz et al. 2015. PubMed ID: 25307992; Bijveld et al. 2013. PubMed ID: 23714322). CSNB exhibits autosomal recessive (AR), dominant (AD) and X-linked inheritance (XL). AR forms of complete CSNB have been reported to be caused due to sequence variations in GRM6 (CSNB1B), TRPM1 (CSNB1C), SLC24A1 (CSNB1D), GPR179 (CSNB1E), CACNA2D4, SAG, GRK1 and CABP4 (CSNB2). AD forms of complete CSNB has been reported to be caused due to sequence variations in RHO (CSNBAD1), PDE6B (CSNBAD2), and GNAT1 (CSNBAD3) LRIT3 (CSNB1F). The XL form of incomplete CSNB is due to sequence variants in CACNA1F (CSNB2A) and NYX (CSNB1) (Nakamura et al. 2001. PubMed ID: 11381068; Dryja et al. 2005. PubMed ID: 15781871; Bijveld et al. 2013. PubMed ID: 23714322; Morimura et al. 1998. PubMed ID: 9501220; Morimura et al. 1998. PubMed ID: 9501220). Other retinal disorders such as RDH5-associated Fundus albipunctatus or RPE65-associated retinitis pigmentosa exhibit night blindness (Narfström et al. 1989. PubMed ID: 2804031). Missense, splicing, nonsense, small and gross deletions/duplications have been reported in these genes (Human Gene Mutation Database).

See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Mutation screening in 101 Dutch CSNB patients (72 families) for 6 CSNB-associated genes (NYX, TRPM1, GRM6, GPR179, CACNA1F and CABP4) identified pathogenic variants in 94 patients (93%) (Bijveld et al. 2013. PubMed ID: 23714322).

So far large deletions and duplications have been reported in CACNA2D4, CACNA1F, GPR179, GRK1, NYX, PDE6B, RHO, SAG, SLC24A1, TRPM1, CHM and RPE65 (Human Gene Mutation Database).

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 symptoms suggestive of inherited optic neuropathy in CSNB or retinal degeneration are candidates.

Genes

Official Gene Symbol OMIM ID
CABP4 608965
CACNA1F 300110
CACNA2D4 608171
CHM 300390
GNAT1 139330
GPR179 614515
GRK1 180381
GRM6 604096
LRIT3 615004
NYX 300278
PDE6B 180072
RDH5 601617
RHO 180380
RPE65 180069
SAG 181031
SLC24A1 603617
TRPM1 603576
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Bech-Hansen et al. 1998. PubMed ID: 9662400
  • Bijveld et al. 2013. PubMed ID: 23714322
  • Chen et al. 2010. IOVS meeting abstract (http://iovs.arvojournals.org/article.aspx?articleid=2371915).
  • Dryja et al. 2005. PubMed ID: 15781871
  • Heckenlively et al. 1983. PubMed ID: 6605090
  • Human Gene Mutation Database (Bio-base).
  • Morimura et al. 1998. PubMed ID: 9501220
  • Nakamura et al. 2001. PubMed ID: 11381068
  • Narfstr√∂m et al. 1989. PubMed ID: 2804031
  • Zeitz et al. 2015. PubMed ID: 25307992

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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