NGS Cone-Rod Dystrophy Panel

 

Disorder Cone-rod dystrophy and related disorders
Gene Names
BCA4 CNGA3 PDE6H SEMA4A
ADAM9 CNGB3 PITPNM3 TTLL5
AIPL1 CNNM4 POC1B TULP1
ATF6 CRB1 PROM1 UNC119
BEST1 CRX PRPH2  
C21orf2 EYS RAB28  
C8orf37 GNAT2 RAX2  
CACNA1F GUCA1A RDH5  
CACNA2D4 GUCY2D RIMS1
CDHR1 KCNV2 RPGR
CERKL PDE6C  RPGRIP1
Clinical info

This panel consists of 37 genes that have been associated with cone-rody dystrophy and related disorders including achromatopsia, retinal cone dystrophy, Jalili syndrome and some forms of Leber congenital amaurosis.  Cone-rod dystophy disorders demonstrate high genetic heterogeneity and can be inherited in an autosomal recessive, autosomal dominant, or X-linked manner. 

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 Cone-rod dystrophy panel covers the coding region for all 37 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 $3,500

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.

 

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Molecular Diagnostic Lab Faculty

Clearing Div - do not delete (is not shown)