NGS Optic Atrophy and Early Glaucoma Panel

 

Disorder Optic atrophy
Infantile cerebellar-retinal degeneration
Fibrodysplasia ossificans progressiva
Hereditary forms of Glaucoma
3-methylglutaconic aciduria
Combined oxidative phosphorylation deficiency
Desbuquois dysplasia
Wolfram syndrome
Brain small vessel disease with or without ocular anomalies
Anterior segment mesenchymal dysgenesis
Aphakia, congenital primary
Nail-patella syndrome
Ayme-Gripp syndrome
Hereditary forms of Cataract
Spastic ataxia
Mitochondrial complex I deficiency
Bosch-Boonstra-Schaaf optic atrophy syndrome
Behr syndrome
Axenfeld-Rieger syndrome
Progressive external ophthalmoplegia
Charcot-Marie-Tooth disease
Frank-ter Haar syndrome
Renal tubular acidosis, proximal, with ocular abnormalities
Spastic paraplegia
Gene Names
ACO2 CYP1B1 NDUFS1 SBF2
ACVR1 FOXC1 NR2F1 SH3PXD2B
ASB10 FOXE3 OPA1 SLC4A4
AUH LMX1B OPA3 SPG7
BEST1 LTBP2 OPTN TBK1
C12orf65 MAF PAX6 TMEM126A
CANT1 MFRP PITX2 WFS1
CISD2 MTPAP PITX3
COL4A1 MYOC POLG
Clinical info

This panel consists of 34 genes related to a diverse group of conditions featuring optic atrophy and/or early glaucoma.

List of Genes and Associated Clinical Phenotypes

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)