Retinal 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: OP0801

The Blueprint Genetics Retinal Dystrophy Panel is a 181 gene test for genetic diagnostics of patients with clinical suspicion of retinal dystrophy.

This panel is specifically designed for differential diagnosis of retinal dystrophies. The panel covers genes associated with retinal dystrophies, including (but not limited to) retinitis pigmentosa, cone rod dystrophy, macular dystrophy, congenital stationary night blindness, achromatopsia, Leber congenital amaurosis, vitreoretinopathy and flecked retina disorders. Genes associated with syndromic retinal dystrophies, including Usher syndrome, Stickler syndrome, Bardet-Biedl syndrome, Joubert syndrome, Senior-Loken syndrome and Refsum disease, are also covered.

About Retinal Dystrophy

Retinal dystrophies are a broad group of clinically and genetically heterogenous disorders affecting the retina (Reviewed in PMID: 26835369). Common presentations among these disorders include night or colour blindness, tunnel vision and subsequent progression to complete blindness. Disease manifestation can occur anywhere from early infancy to late adulthood and both stationary and progressive diseases have been described. The inheritance pattern may be autosomal recessive, autosomal dominant or X-linked. Also, sporadic cases are observed. Mutations within the same gene have been shown to cause different disease phenotypes, even among affected individuals within the same family highlighting further levels of complexity. Retinal dystrophy can be nonsyndromic or part of a syndrome in which clinical presentations extend to more than the affected retina. Examples of retinal dystrophies associated with syndromic features are Usher syndrome, Stickler syndrome, Bardet-Biedl syndrome, Joubert syndrome, Senior-Loken syndrome, Cohen syndrome and Alström syndrome. For detailed description of different retinal dystrophies, please see the ophthalmology subpanel descriptions.

Availability

Results in 3-4 weeks.

Genes in the Retinal Dystrophy Panel and their clinical significance
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA4Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Retinal dystrophy, early-onset severe, Fundus flavimaculatusAR2031012
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractAR1015
ADAM9Cone rod dystrophyAR59
ADGRV1Usher syndromeAR/Digenic43153
AHI1Joubert syndromeAR4770
AIPL1Retinitis pigmentosa, Cone rod dystrophy, Leber congenital amaurosisAD/AR873
ALMS1*Alström syndromeAR31281
ARL6Bardet-Biedl syndrome, Retinitis pigmentosaAR921
ARL13BJoubert syndromeAR97
ATF6AchromatopsiaAR1013
B9D1Meckel syndromeAR88
B9D2Meckel syndromeAR54
BBS1Bardet-Biedl syndromeAR1992
BBS2Bardet-Biedl syndrome, Retinitis pigmentosaAR3084
BBS4Bardet-Biedl syndromeAR1345
BBS5Bardet-Biedl syndromeAR1027
BBS7Bardet-Biedl syndromeAR1236
BBS9Bardet-Biedl syndromeAR2142
BBS10Bardet-Biedl syndromeAR2396
BBS12Bardet-Biedl syndromeAR859
BEST1Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, VitreoretinochoroidopathyAD/AR31269
C2ORF71Retinitis pigmentosaAR11
C5ORF42Orofaciodigital syndrome, Joubert syndromeAR63
C8ORF37Retinitis pigmentosa, Cone rod dystrophyAR4
CABP4Night blindness, congenital stationaryAR410
CACNA1FAland Island eye disease, Cone rod dystrophy, Night blindness, congenital stationaryXL18142
CACNA2D4Retinal cone dystrophyAR19
CAPN5Vitreoretinopathy, neovascular inflammatoryAD35
CC2D2ACOACH syndrome, Joubert syndrome, Meckel syndromeAR6480
CDH23Deafness, Usher syndromeAR/Digenic48294
CDHR1Retinitis pigmentosa, Cone rod dystrophyAR933
CEP41Joubert syndromeAR/Digenic710
CEP164NephronophthisisAR78
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR79252
CERKLRetinitis pigmentosaAR1026
CHMChoiroideremiaXL26268
CIB2Deafness, Usher syndromeAR415
CLN3Ceroid lipofuscinosis, neuronalAR6964
CLRN1Retinitis pigmentosa, Usher syndromeAR1432
CNGA1Retinitis pigmentosaAR1027
CNGA3Leber congenital amaurosis, AchromatopsiaAR16141
CNGB1Retinitis pigmentosaAR1233
CNGB3Macular degeneration, juvenile, AchromatopsiaAR1463
CNNM4Jalili syndromeAR918
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasiaAD106537
COL9A1AR34
COL9A2Stickler syndromeAR512
COL9A3AD316
COL11A1Marshall syndrome, FibrochondrogenesisAD/AR1876
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, FibrochondrogenesisAD/AR1751
COL18A1Knobloch syndromeAR1329
CRB1Retinitis pigmentosa, Pigmented paravenous chorioretinal atrophy, Leber congenital amaurosisAD/AR31291
CRXCone rod dystrophy, Leber congenital amaurosisAD/AR2287
CSPP1Jeune Asphyxiating Thoracic Dystrophy, Joubert syndromeAR2223
CYP4V2Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophyAR3075
DFNB31Deafness, Usher syndromeAR928
DHDDSRetinitis pigmentosaAR13
DTHD1Leber congenital amaurosis with muscle dystrophyAR1
EFEMP1Doyne honeycomb degeneration of retina, Malattia leventineseAD/AR16
ELOVL4Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxiaAD/AR612
EYS*Retitinis pigmentosaAR44234
FAM161ARetitinis pigmentosaAR714
FBLN5Cutis laxa, Macular degeneration, age-relatedAD/AR1321
FLVCR1Ataxia, posterior column, with retinitis pigmentosaAR412
FRMD7Nystagmus, infantile periodic alternatingXL1475
FZD4Retinopathy of prematurity, Exudative vitreoretinopathyAD/Digenic985
GNAT1Night blindness, congenital stationaryAD/AR36
GNAT2AchromatopsiaAR411
GNPTGMucolipidosisAR2242
GPR179Night blindness, congenital stationaryAR1115
GRK1Oguchi diseaseAR520
GRM6Night blindness, congenital stationaryAR933
GUCA1ACone dystrophy 3/Cone rod dystrophyAD516
GUCY2DCone rod dystrophy, Leber congenital amaurosisAD/AR18214
HARSUsher syndromeAR610
HK1Hemolytic anemia, nonspherocytic, due to hexokinase deficiencyAR58
HMX1Oculoauricular syndromeAR32
IDH3BRetinitis pigmentosaAR22
IFT140Short -rib thoracic dysplasia with or without polydactylyAR1446
IFT172Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactylyAR1821
IMPDH1Retinitis pigmentosa, Leber congenital amaurosisAD620
IMPG1Macular dystrophy, vitelliformAD58
IMPG2Retinitis pigmentosaAR1623
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)AR1941
INVSNephronophthisisAR933
IQCB1Senior-Loken syndromeAR1535
KCNJ13Snowflake vitreoretinal degeneration, Leber congenital amaurosisAD/AR610
KCNV2Retinal cone dystrophyAR1387
KIAA0586Short rib thoracic dysplasia with polydactyly, Joubert syndromeAR1426
KIF7Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndromeAR/Digenic1339
KIF11MicrocephalyAD1758
KLHL7Retinitis pigmentosaAD77
LCA5Leber congenital amaurosisAR745
LRATRetinitis pigmentosa, juvenile, Leber congenital amaurosis, Retinitis punctata albescens, Retinal-dystrophy, early-onset severeAR718
LRIT3Night blindness, congenital stationaryAR47
LRP2Donnai-Barrow syndrome, Faciooculoacousticorenal syndromeAR1528
LRP5*Van Buchem disease, Osteoporosis-pseudoglioma syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathyAD/AR/Digenic36163
MAKRetinitis pigmentosaAR913
MERTKRetinitis pigmentosaAR1859
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndromeAR1357
MKS1Bardet-Biedl syndrome, Meckel syndromeAR3947
MVKMevalonic aciduria, Hyper-IgD syndromeAR27168
MYO7ADeafness, Usher syndromeAR125402
NDPExudative vitreoretinopathy, Norrie diseaseXL25155
NMNAT1Leber congenital amaurosisAR1164
NPHP1Nephronophthisis, Joubert syndrome, Senior-Loken syndromeAR1264
NPHP3Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndromeAR2071
NPHP4Nephronophthisis, Senior-Loken syndromeAR10104
NR2E3Retinitis pigmentosa, Enhanced S-cone syndromeAD/AR1274
NRLRetinitis pigmentosa, Clumped pigmentary retinal degenerationAD/AR721
NYXNight blindness, congenital stationaryXL782
OATGyrate atrophy of choroid and retinaAR6269
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL129148
OPA1Glaucoma, normal tensionAD67357
OPA3Optic atrophy, 3-methylglutaconic aciduriaAD/AR712
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunctionAD1665
PANK2Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Neurodegeneration with brain iron accumulationAD/AR17148
PCDH15Deafness, Usher syndromeAR/Digenic2897
PDE6ARetinitis pigmentosaAR740
PDE6BRetinitis pigmentosa, Night blindness, congenital stationaryAD/AR19100
PDE6CCone dystrophyAR1833
PDE6GRetinitis pigmentosaAR12
PDE6HRetinal cone dystrophy, AchromatopsiaAD/AR22
PDZD7Usher syndromeDigenic114
PEX1Heimler syndromeAR34121
PEX2Zellweger syndrome, Peroxisome biogenesis disorderAR818
PEX7Refsum diseaseAR1751
PHYHRefsum diseaseAR936
PRCDRetinitis pigmentosaAR36
PROM1Stargardt disease, Retinitis pigmentosa, Cone rod dystrophy, Macular dystrophy, retinal,AD/AR1058
PRPF3Retinitis pigmentosaAD34
PRPF8Retinitis pigmentosaAD933
PRPF31Retinitis pigmentosaAD21122
PRPH2Choriodal dystrophy, central areolar, Macular dystrophy, vitelliform, Retinitis pigmentosa, Retinitis punctata albescens, Macula dystrophy, patternedAD/Digenic28157
RAX2Cone rod dystrophyAD54
RBP3Retinitis pigmentosaAR311
RD3Leber congenital amaurosisAR513
RDH5Fundus albipunctatusAR1150
RDH12Retinitis pigmentosa, Leber congenital amaurosisAD/AR2095
RGRRetinitis pigmentosaAD/AR18
RHORetinitis pigmentosa, Night blindness, congenital stationary, Retinitis punctata albescensAD/AR50197
RLBP1Newfoundland rod-cone dystrophy, Fundus albipunctatus, Bothnia retinal dystrophy, Retinitis punctata albescensAR733
RP1Retinitis pigmentosaAD/AR21149
RP1L1Occult macular dystrophy, Retinitis pigmentosaAD/AR433
RP2Retinitis pigmentosaXL14104
RPE65Retinitis pigmentosa, Leber congenital amaurosisAR16170
RPGRRetinitis pigmentosaXL41184
RPGRIP1Cone rod dystrophy, Leber congenital amaurosisAR23117
RPGRIP1LCOACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifierAD/AR2841
RS1RetinoschisisXL24235
SAGRetinitis pigmentosa, Oguchi diseaseAR514
SDCCAG8Bardet-Biedl syndrome, Senior-Loken syndromeAR1218
SEMA4ARetinitis pigmentosa, Cone rod dystrophyAR213
SNRNP200Retinitis pigmentosaAD623
SPATA7Leber congenital amaurosis, Retitinitis pigmentosaAR1029
TCTN1Joubert syndromeAR66
TCTN2Joubert syndrome, Meckel syndromeAR1513
TCTN3Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndromeAR810
TMEM67Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndromeAR78138
TMEM107Joubert syndromeAD/AR72
TMEM126AOptic atrophyAR11
TMEM138Joubert syndromeAR66
TMEM216Joubert syndrome, Meckel syndromeAR88
TMEM231Joubert syndrome, Meckel syndromeAR716
TMEM237Joubert syndromeAR610
TOPORSRetitinis pigmentosaAD416
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdleAR715
TRPM1Night blindness, congenital stationaryAR1462
TSPAN12Exudative vitreoretinopathy, Retinal dysplasia and severe familial exudative vitreoretinopathyAD/AR1332
TTC8Bardet-Biedl syndrome, Retinitis pigmentosaAR516
TTC21BShort-rib thoracic dysplasia, NephronophthisisAR647
TTPAAtaxia with isolated vitamin E deficiencyAR1928
TULP1Retinitis pigmentosa, Leber congenital amaurosisAR1966
USH1CDeafness, Usher syndromeAR1345
USH1GUsher syndromeAR924
USH2AUsher syndromeAR147924
VCANWagner diseaseAD1119
VPS13BCohen syndromeAR128184
WDR19Retinitis pigmentosa, Nephronophthisis, Short -rib thoracic dysplasia with or without polydactyly, Senior-Loken syndromeAD/AR1625
ZNF423Nephronophthisis, Joubert syndromeAD/AR76
ZNF513Retinitis pigmentosaAR11
  • * Some regions of the gene are duplicated in the genome leading to limited sensitivity within the regions. Thus, low-quality variants are filtered out from the duplicated regions and only high-quality variants confirmed by other methods are reported out. Read more.

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 retinal dystrophy panel that covers classical genes associated with achromatopsia, Alström syndrome, Bardet-Biedl syndrome, choroideremia, Cohen syndrome, cone rod dystrophy, congenital stationary night blindness, familial exudative vitreoretinopathy, fundus albipunctatus, gyrate atrophy of choroid and retina, Joubert syndrome, Leber congenital amaurosis, Norrie disease, refsum disease, retinal dystrophy, retinitis pigmentosa, Senior-Loken syndrome, Stargardt disease, Stickler syndrome, Usher syndrome and x-linked retinoschisis. 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

SEQ81434
DEL/DUP81479


ICD codes

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

ICD-10Disease
H35.50Retinal 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.

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