NGS Congenital Stationary Night Blindness Panel

 

Disorder Congenital Stationary Night Blindness
Oguchi Disease
Gene Names
CABP4  GRK1 RDH5
CACNA1F GRM6  RHO
GNAT1  LRIT3  SAG
 GNB3  NYX  SLC24A1
 GPR179 PDE6B  TRPM1
Clinical info

This panel consists of 15 genes that have been associated with forms of congenital stationary night blindness.  This group of disorders is generally non-progressive with defective dark adaptation. Nystagmus and myopia are common with these conditions, but visual acuity can vary greatly.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis. Please note that this panel was developed for the detection of germline, not somatic, mutations.

Detection

The current design of the congenital stationary night blindness panel covers the coding region for all 15 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

Associated Tests

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 8-10 weeks
Prenatal testing

If the pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes 81479
Cost $3,000

Insurance billing is available for this test. The Billing Form is required along with copies of the authorization or letter of agreement from the insurance company.
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

NGS Panel Requisition Form

Please submit a completed Requisition Form with all samples.

 

Test Finder

Interested in our tests? Take a look at our test finder.

Molecular Diagnostic Lab Faculty

Clearing Div - do not delete (is not shown)