Macular Dystrophy Panel

SEQmethod-seq-icon Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq™ and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. DEL/DUPmethod-dup-icon Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 21 days. PLUSmethod-plus-icon Plus Analysis combines Sequence + Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions, where the underlying genetic defect may be detectable by either of the analysis methods. Results in 21 days.

Test code: OP0101

The Blueprint Genetics Macular Dystrophy Panel is a 17 gene test for genetic diagnostics of patients with clinical suspicion of macular dystrophy.

This panel covers genes associated with macular dystrofies, such as best vitelliform macular dystrophy and Stargardt disease. This panel is estimated to provide molecular diagnosis for over 90% of patients with vitelliform macular dystrophy. The panel includes differential diagnostics for fundus albipunctatus. The panel is included in the Retinal Dystrophy Panel.

About Macular Dystrophy

Macular dystrophy is a rare ocular disorder, which affects the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks, such as reading, driving and recognizing faces. Best vitelliform macular dystrophy is an autosomal dominant disorder characterized by bilateral yellow "egg-yolk" appearance of the macula. It is slowly progressive disease with onset generally in childhood and sometimes in later teenage years. Affected individuals initially have normal vision followed by decreased central visual acuity and metamorphopsia. Individuals retain normal peripheral vision and dark adaptation. Best vitelliform macular dystrophy is caused by mutations in BEST1. The prevalence is estimated to be between 1:5,000 and 1:67,000 in northern Sweden and Denmark, respectively. Adult vitelliform macular dystrophy (AVMD) is characterized by the presence of bilateral, small, circular, yellow, symmetrical, subretinal lesions with drusen-like deposits. It shows significant phenotypic overlap with Best vitelliform macular dystrophy and affects mainly middle-aged individuals. Variability in the clinical presentation is a characteristic feature. Mutations in the PRPH2 gene cause a variety of retinal disorders, including AVMD. Stargardt disease or fundus flavimaculatus is a progressive form of juvenile macular degeneration with considerable clinical and genetic heterogeneity. Inheritance pattern can be either autosomal dominant or recessive. Stardardt disease is caused by mutations in ABCA4, PROM1 or ELOVL4. Worldwide prevalence of Stargardt disease is estimated at 1:8,000 - 1:10,000.

Availability

Results in 3-4 weeks. We do not offer a maternal cell contamination (MCC) test at the moment. We offer prenatal testing only for cases where the maternal cell contamination studies (MCC) are done by a local genetic laboratory. Read more.

Genes in the Macular Dystrophy Panel and their clinical significance
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA4Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatusAR2031012
BEST1Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, VitreoretinochoroidopathyAD/AR31269
CERKLRetinitis pigmentosaAR1026
CNGB3Macular degeneration, juvenile, AchromatopsiaAR1463
CRB1Retinitis pigmentosa, Pigmented paravenous chorioretinal atrophy, Leber congenital amaurosisAD/AR31291
ELOVL4Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxiaAD/AR612
FBLN5Cutis laxa, Macular degeneration, age-relatedAD/AR1321
IMPG1Macular dystrophy, vitelliformAD58
PROM1Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Macular dystrophy, retinal,AD/AR1058
PRPH2Choriodal dystrophy, central areolar, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens, Macula dystrophy, patternedAD/Digenic28157
RAX2Cone rod dystrophyAD54
RDH5Fundus albipunctatusAR1150
RDH12Retinitis pigmentosa, Leber congenital amaurosisAD/AR2095
RLBP1Newfoundland rod-cone dystrophy, Fundus albipunctatus, Bothnia retinal dystrophy, Retinitis punctata albescensAR733
RP1L1Occult macular dystrophy, Retinitis pigmentosaAD/AR433
RPGRRetinitis pigmentosaXL41184
RS1RetinoschisisXL24235

Gene, refers to HGNC approved gene symbol; Inheritance to inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL); ClinVar, refers to a number of variants in the gene classified as pathogenic or likely pathogenic in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/); HGMD, refers to a number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD, http://www.hgmd.cf.ac.uk/ac/). The list of associated (gene specific) phenotypes are generated from CDG (http://research.nhgri.nih.gov/CGD/) or Orphanet (http://www.orpha.net/) databases.

Blueprint Genetics offers a comprehensive macular dystrophy panel that covers classical genes associated with adult-onset foveomacular dystrophy, best vitelliform macular dystrophy, fundus albipunctatus and macular dystrophy. The genes are carefully selected based on the existing scientific evidence, our experience and most current mutation databases. Candidate genes are excluded from this first-line diagnostic test. The test does not recognise balanced translocations or complex inversions, and it may not detect low-level mosaicism. The test should not be used for analysis of sequence repeats or for diagnosis of disorders caused by mutations in the mitochondrial DNA.

Please see our latest validation report showing sensitivity and specificity for SNPs and indels, sequencing depth, % of the nucleotides reached at least 15x coverage etc. If the Panel is not present in the report, data will be published when the Panel becomes available for ordering. Analytical validation is a continuous process at Blueprint Genetics. Our mission is to improve the quality of the sequencing process and each modification is followed by our standardized validation process. All the Panels available for ordering have sensitivity and specificity higher than > 0.99 to detect single nucleotide polymorphisms and a high sensitivity for indels ranging 1-19 bp. The diagnostic yield varies substantially depending on the used assay, referring healthcare professional, hospital and country. Blueprint Genetics’ Plus Analysis (Seq+Del/Dup) maximizes the chance to find molecular genetic diagnosis for your patient although Sequence Analysis or Del/Dup Analysis may be cost-effective first line test if your patient’s phenotype is suggestive for a specific mutation profile. Detection limit for Del/Dup analysis varies through the genome from one to six exon Del/Dups depending on exon size, sequencing coverage and sequence content.

The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The highest relevance in the reported variants is achieved through elimination of false positive findings based on variability data for thousands of publicly available human reference sequences and validation against our in-house curated mutation database as well as the most current and relevant human mutation databases. Reference databases currently used are the 1000 Genomes Project (http://www.1000genomes.org), the NHLBI GO Exome Sequencing Project (ESP; http://evs.gs.washington.edu/EVS), the Exome Aggregation Consortium (ExAC; http://exac.broadinstitute.org), ClinVar database of genotype-phenotype associations (http://www.ncbi.nlm.nih.gov/clinvar) and the Human Gene Mutation Database (http://www.hgmd.cf.ac.uk). The consequence of variants in coding and splice regions are estimated using the following in silico variant prediction tools: SIFT (http://sift.jcvi.org), Polyphen (http://genetics.bwh.harvard.edu/pph2/), and Mutation Taster (http://www.mutationtaster.org).

Through our online ordering and statement reporting system, Nucleus, the customer can access specific details of the analysis of the patient. This includes coverage and quality specifications and other relevant information on the analysis. This represents our mission to build fully transparent diagnostics where the customer gains easy access to crucial details of the analysis process.

In addition to our cutting-edge patented sequencing technology and proprietary bioinformatics pipeline, we also provide the customers with the best-informed clinical report on the market. Clinical interpretation requires fundamental clinical and genetic understanding. At Blueprint Genetics our geneticists and clinicians, who together evaluate the results from the sequence analysis pipeline in the context of phenotype information provided in the requisition form, prepare the clinical statement. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals, even without training in genetics.

Variants reported in the statement are always classified using the Blueprint Genetics Variant Classification Scheme modified from the ACMG guidelines (Richards et al. 2015), which has been developed by evaluating existing literature, databases and with thousands of clinical cases analyzed in our laboratory. Variant classification forms the corner stone of clinical interpretation and following patient management decisions. Our statement also includes allele frequencies in reference populations and in silico predictions. We also provide PubMed IDs to the articles or submission numbers to public databases that have been used in the interpretation of the detected variants. In our conclusion, we summarize all the existing information and provide our rationale for the classification of the variant.

A final component of the analysis is the Sanger confirmation of the variants classified as likely pathogenic or pathogenic. This does not only bring confidence to the results obtained by our NGS solution but establishes the mutation specific test for family members. Sanger sequencing is also used occasionally with other variants reported in the statement. In the case of variant of uncertain significance (VUS) we do not recommend risk stratification based on the genetic finding. Furthermore, in the case VUS we do not recommend use of genetic information in patient management or genetic counseling. For some cases Blueprint Genetics offers a special free of charge service to investigate the role of identified VUS.

We constantly follow genetic literature adapting new relevant information and findings to our diagnostics. Relevant novel discoveries can be rapidly translated and adopted into our diagnostics without delay. These processes ensure that our diagnostic panels and clinical statements remain the most up-to-date on the market.

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ICD & CPT codes

CPT codes

SEQ81479
DEL/DUP81479


ICD codes

Commonly used ICD-10 codes when ordering the Macular Dystrophy Panel

ICD-10Disease
H35.50Macular dystrophy

Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.