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Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection

  • Summary and Pricing
  • Clinical Features and Genetics
  • Citations
  • Methods
  • Ordering/Specimens
Order Kits
TEST METHODS

Sequencing

Test Code Test Copy GenesCPT Code Copy CPT Codes
4379 ABCA4 81408, 81479 Add to Order
ABCD1 81405, 81479
ABHD12 81479, 81479
ACBD5 81479, 81479
ACO2 81479, 81479
ADAM9 81479, 81479
ADAMTS18 81479, 81479
ADGRV1 81479, 81479
ADIPOR1 81479, 81479
AGBL5 81479, 81479
AHI1 81407, 81479
AIPL1 81479, 81479
ALMS1 81479, 81479
AMACR 81479, 81479
ARL13B 81479, 81479
ARL2BP 81479, 81479
ARL3 81479, 81479
ARL6 81479, 81479
ATF6 81479, 81479
ATXN7 81479, 81479
B9D1 81479, 81479
B9D2 81479, 81479
BBIP1 81479, 81479
BBS1 81406, 81479
BBS10 81404, 81479
BBS12 81479, 81479
BBS2 81406, 81479
BBS4 81479, 81479
BBS5 81479, 81479
BBS7 81479, 81479
BBS9 81479, 81479
BEST1 81406, 81479
C1QTNF5 81479, 81479
C21orf2 81479, 81479
C2orf71 81479, 81479
C5orf42 81479, 81479
C8orf37 81479, 81479
CA4 81479, 81479
CABP4 81479, 81479
CACNA1F 81479, 81479
CACNA2D4 81479, 81479
CAPN5 81479, 81479
CC2D2A 81479, 81479
CDH23 81408, 81479
CDH3 81479, 81479
CDHR1 81479, 81479
CEP164 81479, 81479
CEP250 81479, 81479
CEP290 81408, 81479
CEP41 81479, 81479
CEP83 81479, 81479
CERKL 81479, 81479
CFAP57 81479, 81479
CHM 81479, 81479
CIB2 81479, 81479
CISD2 81479, 81479
CLN3 81479, 81479
CLN5 81479, 81479
CLN6 81479, 81479
CLN8 81479, 81479
CLRN1 81404, 81479
CNGA1 81479, 81479
CNGA3 81479, 81479
CNGB1 81479, 81479
CNGB3 81479, 81479
CNNM4 81479, 81479
COL11A1 81479, 81479
COL2A1 81479, 81479
COL9A1 81479, 81479
CRB1 81479, 81406
CRX 81404, 81479
CSPP1 81479, 81479
CTNNA1 81479, 81479
CTSD 81479, 81479
CYP4V2 81479, 81479
DHDDS 81479, 81479
DHX38 81479, 81479
DNAJC5 81479, 81479
DRAM2 81479, 81479
DTHD1 81479, 81479
EFEMP1 81479, 81479
ELOVL4 81479, 81479
EMC1 81479, 81479
EYS 81479, 81479
FAM161A 81479, 81479
FLVCR1 81479, 81479
FSCN2 81479, 81479
FZD4 81479, 81479
GDF6 81479, 81479
GJB2 81252, 81479
GJB6 81479, 81479
GNAT1 81479, 81479
GNAT2 81479, 81479
GPR179 81479, 81479
GRM6 81479, 81479
GRN 81406, 81479
GUCA1A 81479, 81479
GUCA1B 81479, 81479
GUCY2D 81479, 81479
HARS 81479, 81479
HCN1 81479, 81479
HGSNAT 81479, 81479
HK1 81479, 81479
HMCN1 81479, 81479
HMX1 81479, 81479
IDH3B 81479, 81479
IFT140 81479, 81479
IFT172 81479, 81479
IFT27 81479, 81479
IFT81 81479, 81479
IMPDH1 81479, 81479
IMPG1 81479, 81479
IMPG2 81479, 81479
INPP5E 81479, 81479
INVS 81479, 81479
IQCB1 81479, 81479
ITM2B 81479, 81479
JAG1 81406, 81407
KCNJ13 81479, 81479
KCNV2 81479, 81479
KIAA1549 81479, 81479
KIF11 81479, 81479
KIF7 81479, 81479
KIZ 81479, 81479
KLHL7 81479, 81479
LAMA1 81479, 81479
LCA5 81479, 81479
LRAT 81479, 81479
LRIT3 81479, 81479
LRP5 81406, 81479
LZTFL1 81479, 81479
MAK 81479, 81479
MERTK 81479, 81479
MFN2 81479, 81406
MFRP 81479, 81479
MFSD8 81479, 81479
MIR204 81479, 81479
MKKS 81479, 81479
MKS1 81479, 81479
MMACHC 81404, 81479
MTTP 81479, 81479
MVK 81479, 81479
MYO7A 81407, 81479
NDP 81404, 81403
NEK2 81479, 81479
NEUROD1 81479, 81479
NMNAT1 81479, 81479
NPHP1 81406, 81405
NPHP3 81479, 81479
NPHP4 81479, 81479
NR2E3 81479, 81479
NR2F1 81479, 81479
NRL 81479, 81479
NXNL1 81479, 81479
NYX 81479, 81479
OAT 81479, 81479
OFD1 81479, 81479
OPA1 81407, 81406
OPA3 81479, 81479
OR2W3 81479, 81479
OTX2 81479, 81479
PANK2 81479, 81479
PAX2 81406, 81479
PCDH15 81407, 81406
PCYT1A 81479, 81479
PDE6A 81479, 81479
PDE6B 81479, 81479
PDE6C 81479, 81479
PDE6D 81479, 81479
PDE6G 81479, 81479
PDE6H 81479, 81479
PDZD7 81479, 81479
PEX1 81479, 81479
PEX10 81479, 81479
PEX11B 81479, 81479
PEX12 81479, 81479
PEX13 81479, 81479
PEX14 81479, 81479
PEX16 81479, 81479
PEX19 81479, 81479
PEX2 81479, 81479
PEX26 81479, 81479
PEX3 81479, 81479
PEX5 81479, 81479
PEX6 81479, 81479
PEX7 81479, 81479
PGK1 81479, 81479
PHYH 81479, 81479
PITPNM3 81479, 81479
PLA2G5 81479, 81479
PLK4 81479, 81479
PNPLA6 81479, 81479
POC1B 81479, 81479
PPT1 81479, 81479
PRCD 81479, 81479
PRKCG 81406, 81479
PROM1 81479, 81479
PRPF3 81479, 81479
PRPF31 81479, 81479
PRPF4 81479, 81479
PRPF6 81479, 81479
PRPF8 81479, 81479
PRPH2 81404, 81479
PRPS1 81479, 81479
RAB28 81479, 81479
RAX2 81479, 81479
RBP3 81479, 81479
RBP4 81479, 81479
RD3 81479, 81479
RDH11 81479, 81479
RDH12 81479, 81479
RDH5 81479, 81479
RGR 81479, 81479
RGS9 81479, 81479
RGS9BP 81479, 81479
RHO 81404, 81479
RIMS1 81479, 81479
RLBP1 81479, 81479
ROM1 81479, 81479
RP1 81404, 81479
RP1L1 81479, 81479
RP2 81479, 81479
RPE65 81406, 81479
RPGR 81479, 81479
RPGRIP1 81479, 81479
RPGRIP1L 81479, 81479
RS1 81479, 81479
RTN4IP1 81479, 81479
SAG 81479, 81479
SDCCAG8 81479, 81479
SEMA4A 81479, 81479
SLC24A1 81479, 81479
SLC25A46 81479, 81479
SLC4A7 81479, 81479
SLC7A14 81479, 81479
SNRNP200 81479, 81479
SPATA7 81479, 81479
SPP2 81479, 81479
TCTN1 81479, 81479
TCTN2 81479, 81479
TCTN3 81479, 81479
TEAD1 81479, 81479
TIMM8A 81479, 81479
TIMP3 81479, 81479
TMEM126A 81479, 81479
TMEM138 81479, 81479
TMEM216 81479, 81479
TMEM231 81479, 81479
TMEM237 81479, 81479
TMEM67 81407, 81479
TOPORS 81479, 81479
TPP1 81479, 81479
TREX1 81479, 81479
TRIM32 81479, 81479
TRNT1 81479, 81479
TRPM1 81479, 81479
TSPAN12 81479, 81479
TTC21B 81479, 81479
TTC8 81479, 81479
TTLL5 81479, 81479
TTPA 81404, 81479
TUB 81479, 81479
TUBGCP4 81479, 81479
TUBGCP6 81479, 81479
TULP1 81479, 81479
UNC119 81479, 81479
USH1C 81407, 81479
USH1G 81404, 81479
USH2A 81408, 81479
VCAN 81479, 81479
VPS13B 81408, 81407
VSX2 81479, 81479
WDPCP 81479, 81479
WDR19 81479, 81479
WDR35 81479, 81479
WFS1 81479, 81479
WHRN 81479, 81479
ZNF408 81479, 81479
ZNF423 81479, 81479
ZNF513 81479, 81479
Full Panel Price* $2390.00
Test Code Test Copy Genes Total Price CPT Codes Copy CPT Codes
4379 Genes x (280) $2390.00 81252, 81403, 81404(x10), 81405(x2), 81406(x14), 81407(x8), 81408(x5), 81479(x519) Add to Order
Pricing Comment

If you would like to order a subset of these genes contact us to discuss pricing.

Targeted Testing

For ordering targeted known variants, please proceed to our Targeted Variants landing page.

Turnaround Time

The great majority of tests are completed within 28 days.

Clinical Sensitivity

A study that analyzed 105 genes in a diagnostic NGS test for Inherited retinal disorders identified a molecular diagnosis for 271 of the 537 referred patients in 62 genes (51%) (Ellingford et al. 2016. PubMed ID: 27208204). Another study that analyzed 105 genes in 170 patients with retinal dystrophies identified molecular diagnoses in 55–80% of patients (Glöckle et al. 2014. PubMed ID: 23591405). Out of these cases, 23 were positive in USH2A. The other major genes were EYS (8 cases), ABCA4 (5 cases), and RHO (5 cases), NR2E3 (3 cases), CRB1 (3 cases), PRPH2 (3 cases) and MYO7A (3 cases). In other genes, causative variants were found only once or twice.

Genomic rearrangements in PRPF31 (causative for adRP) are known to account for 2.5% of adRP (Sullivan et al. 2006. PubMed ID: 17003455). Deletions and rearrangements are also found in ABCA4, which is causative for arRP (Yatsenko et al. 2003. PubMed ID: 12754711). In addition, copy number variants have been reported in ABHD12, ARL6, BEST1, CACNA1F, CEP290, CHM, CRB1, CRX, EYS, GUCY2D, IMPG2, MERTK, NR2E3, PDE6B, PRPF31, PRPH2, RDH12, RHO, RLBP1, RP2, RPE65, RPGR, RPGRIP1, SAG, SPATA7, TULP1 and USH2A (Human Gene Mutation Database). A study by Perrault et al. (2000) identified two gross deletions and one duplication in GUCY2D out of 118 patients affected with Leber Congenital Amaurosis (Perrault et al. 2000. PubMed ID: 10951519).

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Clinical Features

Inherited retinal disorders (IRD) are the leading cause of blindness in the western world (1 in 3,000 people). Identifying the genetic cause for the IRD is challenging due to genetic heterogeneity. According to the World Health Organization (WHO) and the American Academy of ophthalmology (AAO), ~ 80% of blindness can be prevented or cured or the disease progression could be slowed if detected at early stages (WHO Fact Sheet). Given these statistics, the importance of early and accurate diagnosis cannot be understated. Currently, molecular diagnosis of IRD is gaining importance due to emerging therapies such as gene therapy (Sahel et al. 2014. PubMed ID: 25324231; Chen et al. 2013. PubMed ID: 23661368).

Genetics

Identifying the genetic cause for the IRD is challenging due to genetic heterogeneity. So far, ~300 loci have been mapped and over 250 genes have been identified to be involved with retinal disorders (RetNet).

Pathogenic variants in USH2A, ABCA4, PDE6A, PDE6B, RPE65, CNGA1, BEST1, C2ORF71, C8ORF37, CLRN1, CNGB1, DHDDS, FAM161A, IDH3B, IMPG2, LRAT, MAK, MERTK, NRL, PDE6G, PRCD, PROM1, RBP3, RGR, RHO, RLBP1, RP1, SAG, SPATA7, TTC8, CERKL, TULP1, ZNF513, and ARL6 cause autosomal recessive (AR) retinal disorders (Chen et al. 2013. PubMed ID: 23661368; Fahim et al. 2013. PubMed ID: 20301590). Pathogenic variants in PRPF8, IMPDH1 and OTX2 cause autosomal dominant (AD) retinal disorders (Bowne et al. 2006. PubMed ID: 16384941; Henderson et al. 2009. PubMed ID: 19956411; Swaroop et al. 1999. PubMed ID: 9931337; Zhao et al. 2006. PubMed ID: 16612614). GUCY2D, KCNJ13, CRB1, RHO, NR2E3 and CRX are implicated in both AD and AR retinal disorders (Kohl et al. 2012. PubMed ID: 22901948; Piri et al. 2005. PubMed ID: 15629837; Wang et al. 2013. PubMed ID: 23847139; Weleber et al. 2013. PubMed ID: 20301475; Udar et al. 2003. PubMed ID: 12552567; Hanein et al. 2002. PubMed ID: 12325031; McKay et al. 2005. PubMed ID: 15623792; Abouzeid et al. 2006. PubMed ID: 16543197; Swaroop et al. 1999. PubMed ID: 9931337; Hejtmancik et al. 2008. PubMed ID: 18179896). Pathogenic variants in RPGR, CACNA1F, RP2, OFD1, RS1 and CHM are involved in X-linked retinal disorders (van den Hurk et al. 2003. PubMed ID: 12827496; Weleber. 2002. PubMed ID: 12187427; Wang et al. 2015. PubMed ID: 26047050; Wang et al. 2013. PubMed ID: 23847139; Online Mendelian Inheritance in Man; Human Gene Mutation Database).

See individual gene test descriptions for information on molecular biology of gene products and spectra of pathogenic variants.

Testing Strategy

For this Next Generation Sequencing (NGS) test, sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization kit, followed by massively parallel sequencing of the captured DNA fragments. Additional Sanger sequencing is performed for regions not captured or with insufficient number of sequence reads. All reported pathogenic, likely pathogenic, and variants of uncertain significance are confirmed by Sanger sequencing.

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

Additional Sanger sequencing is performed for a few exonic and deep intronic (such as in ABCA4 and RPGR) regions that are not covered by the exome platform, but that contain documented causative variants.

Of note, all the 280 genes will be sequenced and all likely benign and above variants will be included in the report (upon request benign variants will also be provided).

Average coverage information (Exome plus Sanger backfill) Total bases: 852,304 Total fraction of Covered bases (≥20X): 99.4%

Please note that ABCA4, ABCD1, ABHD12, AGBL5, BBIP1, BEST1, C1QTNF5, C2orf71, CAPN5, CDH23, CEP164, CEP250, CHM, CNNM4, GRM6, HMX1, IFT81, IMPDH1, INPP5E, INVS, IQCB1, KIAA1549, LRP5, MYO7A, NXNL1, OAT, OFD1, PDZD7, PEX11B, PEX12, PEX7, PNPLA6, PRKCG, PRPF3, PRPF31, RP1L1, RPGR, RTN4IP1 , SLC24A1, TMEM231, TPP1, TTPA, TUBGCP4, USH1C, USH2A and VPS13B do not have 100% coverage for a few exonic regions. However, if we find a pathogenic or a likely pathogenic in one of these genes, we will perform Sanger backfill.

Because analysis of the RPGR Exon 15 (ORF15) purine rich region is especially difficult; we utilize special Sanger sequencing chemistry for this region.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

All patients with symptoms suggestive of inherited retinal disorders are candidates.

Genes

Official Gene Symbol OMIM ID
ABCA4 601691
ABCD1 300371
ABHD12 613599
ACBD5 616618
ACO2 100850
ADAM9 602713
ADAMTS18 607512
ADGRV1 602851
ADIPOR1 607945
AGBL5 615900
AHI1 608894
AIPL1 604392
ALMS1 606844
AMACR 604489
ARL13B 608922
ARL2BP 615407
ARL3 604695
ARL6 608845
ATF6 605537
ATXN7 607640
B9D1 614144
B9D2 611951
BBIP1 613605
BBS1 209901
BBS10 610148
BBS12 610683
BBS2 606151
BBS4 600374
BBS5 603650
BBS7 607590
BBS9 607968
BEST1 607854
C1QTNF5 608752
C21orf2 603191
C2orf71 613425
C5orf42 614571
C8orf37 614477
CA4 114760
CABP4 608965
CACNA1F 300110
CACNA2D4 608171
CAPN5 602537
CC2D2A 612013
CDH23 605516
CDH3 114021
CDHR1 609502
CEP164 614848
CEP250 609689
CEP290 610142
CEP41 610523
CEP83 615847
CERKL 608381
CFAP57 614259
CHM 300390
CIB2 605564
CISD2 611507
CLN3 607042
CLN5 608102
CLN6 606725
CLN8 607837
CLRN1 606397
CNGA1 123825
CNGA3 600053
CNGB1 600724
CNGB3 605080
CNNM4 607805
COL11A1 120280
COL2A1 120140
COL9A1 120210
CRB1 604210
CRX 602225
CSPP1 611654
CTNNA1 116805
CTSD 116840
CYP4V2 608614
DHDDS 608172
DHX38 605584
DNAJC5 611203
DRAM2 613360
DTHD1 616979
EFEMP1 601548
ELOVL4 605512
EMC1 616846
EYS 612424
FAM161A 613596
FLVCR1 609144
FSCN2 607643
FZD4 604579
GDF6 601147
GJB2 121011
GJB6 604418
GNAT1 139330
GNAT2 139340
GPR179 614515
GRM6 604096
GRN 138945
GUCA1A 600364
GUCA1B 602275
GUCY2D 600179
HARS 142810
HCN1 602780
HGSNAT 610453
HK1 142600
HMCN1 608548
HMX1 142992
IDH3B 604526
IFT140 614620
IFT172 607386
IFT27 615870
IFT81 605489
IMPDH1 146690
IMPG1 602870
IMPG2 607056
INPP5E 613037
INVS 243305
IQCB1 609237
ITM2B 603904
JAG1 601920
KCNJ13 603208
KCNV2 607604
KIAA1549 613344
KIF11 148760
KIF7 611254
KIZ 615757
KLHL7 611119
LAMA1 150320
LCA5 611408
LRAT 604863
LRIT3 615004
LRP5 603506
LZTFL1 606568
MAK 154235
MERTK 604705
MFN2 608507
MFRP 606227
MFSD8 611124
MIR204 610942
MKKS 604896
MKS1 609883
MMACHC 609831
MTTP 157147
MVK 251170
MYO7A 276903
NDP 300658
NEK2 604043
NEUROD1 601724
NMNAT1 608700
NPHP1 607100
NPHP3 608002
NPHP4 607215
NR2E3 604485
NR2F1 132890
NRL 162080
NXNL1 608791
NYX 300278
OAT 613349
OFD1 300170
OPA1 605290
OPA3 606580
OR2W3 616729
OTX2 600037
PANK2 606157
PAX2 167409
PCDH15 605514
PCYT1A 123695
PDE6A 180071
PDE6B 180072
PDE6C 600827
PDE6D 602676
PDE6G 180073
PDE6H 601190
PDZD7 612971
PEX1 602136
PEX10 602859
PEX11B 603867
PEX12 601758
PEX13 601789
PEX14 601791
PEX16 603360
PEX19 600279
PEX2 170993
PEX26 608666
PEX3 603164
PEX5 600414
PEX6 601498
PEX7 601757
PGK1 311800
PHYH 602026
PITPNM3 608921
PLA2G5 601192
PLK4 605031
PNPLA6 603197
POC1B 614784
PPT1 600722
PRCD 610598
PRKCG 176980
PROM1 604365
PRPF3 607301
PRPF31 606419
PRPF4 607795
PRPF6 613979
PRPF8 607300
PRPH2 179605
PRPS1 311850
RAB28 612994
RAX2 610362
RBP3 180290
RBP4 180250
RD3 180040
RDH11 607849
RDH12 608830
RDH5 601617
RGR 600342
RGS9 604067
RGS9BP 607814
RHO 180380
RIMS1 606629
RLBP1 180090
ROM1 180721
RP1 603937
RP1L1 608581
RP2 300757
RPE65 180069
RPGR 312610
RPGRIP1 605446
RPGRIP1L 610937
RS1 300839
RTN4IP1 610502
SAG 181031
SDCCAG8 613524
SEMA4A 607292
SLC24A1 603617
SLC25A46 610826
SLC4A7 603353
SLC7A14 615720
SNRNP200 601664
SPATA7 609868
SPP2 602637
TCTN1 609863
TCTN2 613846
TCTN3 613847
TEAD1 189967
TIMM8A 300356
TIMP3 188826
TMEM126A 612988
TMEM138 614459
TMEM216 613277
TMEM231 614949
TMEM237 614423
TMEM67 609884
TOPORS 609507
TPP1 607998
TREX1 606609
TRIM32 602290
TRNT1 612907
TRPM1 603576
TSPAN12 613138
TTC21B 612014
TTC8 608132
TTLL5 612268
TTPA 600415
TUB 601197
TUBGCP4 609610
TUBGCP6 610053
TULP1 602280
UNC119 604011
USH1C 605242
USH1G 607696
USH2A 608400
VCAN 118661
VPS13B 607817
VSX2 142993
WDPCP 613580
WDR19 608151
WDR35 613602
WFS1 606201
WHRN 607928
ZNF408 616454
ZNF423 604557
ZNF513 613598
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 3 AR 258501
Achromatopsia 7 AR 616517
Acrocallosal Syndrome, Schinzel Type AR 200990
Adrenoleukodystrophy XL 300100
Age-Related Macular Degeneration 1 AD 603075
Age-Related Macular Degeneration 6 AD 613757
Alagille Syndrome 1 AD 118450
Aland Island Eye Disease XL 300600
Alstrom Syndrome AR 203800
Ataxia With Vitamin E Deficiency AR 277460
Bardet-Biedl Syndrome 1 AR 209900
Bardet-Biedl Syndrome 10 AR 615987
Bardet-Biedl Syndrome 11 AR 615988
Bardet-Biedl Syndrome 12 AR 615989
Bardet-Biedl Syndrome 13 AR 615990
Bardet-Biedl Syndrome 15 AR 615992
Bardet-Biedl Syndrome 16 AR 615993
Bardet-Biedl Syndrome 17 AR 615994
Bardet-Biedl Syndrome 18 AR 615995
Bardet-Biedl Syndrome 19 AR 615996
Bardet-Biedl Syndrome 4 AR 615982
Bardet-Biedl Syndrome 5 AR 615983
Bardet-Biedl Syndrome 6 AR 605231
Bardet-Biedl Syndrome 7 AR 615984
Bardet-Biedl Syndrome 9 AR 615986
Bestrophinopathy, Autosomal Recessive AR 611809
Bosch-Boonstra-Schaaf optic atrophy syndrome AD 615722
Bothnia Retinal Dystrophy AR 607475
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation AR 616875
Ceroid Lipofuscinosis Neuronal 1 AR 256730
Ceroid Lipofuscinosis Neuronal 10 AR 610127
Ceroid Lipofuscinosis Neuronal 11 AR 614706
Ceroid Lipofuscinosis Neuronal 2 AR 204500
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant AD 162350
Ceroid Lipofuscinosis Neuronal 5 AR 256731
Ceroid Lipofuscinosis Neuronal 6 AR 601780
Ceroid Lipofuscinosis Neuronal 7 AR 610951
Ceroid Lipofuscinosis Neuronal 8 AR 600143
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 XL 311070
Choroideremia XL 303100
COACH Syndrome AR 216360
Cohen Syndrome AR 216550
Cone Dystrophy 3 AD 602093
Cone Dystrophy 4 AR 613093
Cone-Rod Dystrophy 11 AD 610381
Cone-Rod Dystrophy 13 AR 608194
Cone-Rod Dystrophy 15 AR 613660
Cone-rod dystrophy 16 AR 614500
Cone-Rod Dystrophy 18 AR 615374
Cone-Rod Dystrophy 19 AR 615860
Cone-Rod Dystrophy 2 AD 120970
Cone-Rod Dystrophy 20 AR 615973
Cone-Rod Dystrophy 21 AR 616502
Cone-Rod Dystrophy 3 AR 604116
Cone-Rod Dystrophy 5 AD 600977
Cone-Rod Dystrophy 6 AD 601777
Cone-Rod Dystrophy 7 AD 603649
Cone-Rod Dystrophy 9 AR 612775
Cone-Rod Dystrophy X-Linked 3 XL 300476
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness AR 222300
Dominant Hereditary Optic Atrophy AD 165500
Doyne Honeycomb Retinal Dystrophy AD 126600
Exudative Vitreoretinopathy 2, X-Linked XL 305390
Exudative Vitreoretinopathy 4 AR, AD 601813
Exudative Vitreoretinopathy 5 AD 613310
Exudative Vitreoretinopathy 6 AD 616468
Familial Exudative Vitreoretinopathy AD 133780
Familial Hypobetalipoproteinemia AR 200100
Fleck Retina, Familial Benign AR 228980
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia AR 258870
Hidrotic Ectodermal Dysplasia Syndrome AD 129500
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration AR 607236
Immunodeficiency 13 AD 615518
Infantile cerebellar-retinal degeneration AR 614559
Infantile Nephronophthisis AR 602088
Jalili Syndrome AR 217080
Joubert Syndrome AR 614615
Joubert Syndrome 13 AR 614173
Joubert syndrome 14 AR 614424
Joubert syndrome 16 AR 614465
Joubert syndrome 18 AR 614815
Joubert syndrome 19 AD 614844
Joubert Syndrome 2 AR 608091
Joubert syndrome 20 AR 614970
Joubert Syndrome 21 AR 615636
Joubert Syndrome 22 AR 615665
Joubert Syndrome 24 AR 616654
Joubert Syndrome 27 AR 617120
Joubert Syndrome 28 AR 617121
Joubert Syndrome 3 AR 608629
Joubert Syndrome 4 AR 609583
Joubert Syndrome 5 AR 610188
Joubert Syndrome 6 AR 610688
Joubert Syndrome 7 AR 611560
Joubert Syndrome 8 AR 612291
Joubert Syndrome 9 AR 612285
Juvenile Macular Degeneration And Hypotrichosis AR 601553
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant AD 148210
Late-Onset Retinal Degeneration AD 605670
Leber Congenital Amaurosis 1 AR 204000
Leber Congenital Amaurosis 10 AR 611755
Leber Congenital Amaurosis 12 AR 610612
Leber Congenital Amaurosis 13 AR 612712
Leber Congenital Amaurosis 14 AR 613341
Leber Congenital Amaurosis 17 AR 615360
Leber Congenital Amaurosis 3 AR 604232
Leber Congenital Amaurosis 4 AR 604393
Leber Congenital Amaurosis 5 AD 604537
Leber Congenital Amaurosis 6 AR 613826
Leber Congenital Amaurosis 7 AR 613829
Macular Dystrophy with Central Cone Involvement AR 616170
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 AD 608970
Macular Dystrophy, Vitelliform, 4 AD 616151
Marshall Syndrome AD 154780
Meckel Syndrome 10 AR 614175
Meckel Syndrome 5 AR 611561
Meckel Syndrome 7 AR 267010
Methylmalonic Aciduria and Homocystinuria, cblC Type AR 277400
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 AR 251270
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 AR 616171
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 AR 616335
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation AD 152950
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus AR 615458
Microphthalmia, Isolated 2 AR 610093
Microphthalmia, Isolated 4 AD 613094
Microphthalmia, Isolated 5 AR 611040
Microphthalmia, Isolated, with Coloboma 10 AD 616428
Microphthalmia, Isolated, With Coloboma 3 AR 610092
Mohr-Tranebjaerg Syndrome XL 304700
MORM Syndrome AR 610156
Mucopolysaccharidosis, MPS-III-C AR 252930
Nephronophthisis 12 AR 613820
Nephronophthisis 15 AR 614845
Nephronophthisis 18 AR 615862
Neuropathy, Hereditary Motor and Sensory, Type VIA AD 601152
Neuropathy, Hereditary Motor and Sensory, Type VIB AR 616505
Newfoundland Rod-Cone Dystrophy AR 607476
Night Blindness, Congenital Stationary, Nougaret Type AD 610444
Night Blindness, Congenital Stationary, Rambusch Type AD 163500
Night Blindness, Congenital Stationary, Rhodopsin-Related AD 610445
Night Blindness, Congenital Stationary, Type 1A XL 310500
Night Blindness, Congenital Stationary, Type 1B AR 257270
Night Blindness, Congenital Stationary, Type 1C AR 613216
Night Blindness, Congenital Stationary, Type 1D AR 613830
Night Blindness, Congenital Stationary, Type 1E AR 614565
Night Blindness, Congenital Stationary, Type 1F AR 615058
Night Blindness, Congenital Stationary, Type 1G AR 616389
Night Blindness, Congenital Stationary, Type 2A XL 300071
Night Blindness, Congenital Stationary, Type 2B AR 610427
Norrie Disease XL 310600
Occult Macular Dystrophy AD 613587
Oculoauricular Syndrome AR 612109
Oguchi's Disease AR 258100
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures AR 616732
Optic Atrophy 7 AR 612989
Optic Atrophy And Cataract, Autosomal Dominant AD 165300
Optic Atrophy Type 1 AD 125250
Papillorenal Syndrome AD 120330
Patterned Dystrophy Of Retinal Pigment Epithelium AD 169150
Peroxisome biogenesis disorder 10A (Zellweger) AR 614882
Peroxisome biogenesis disorder 11A (Zellweger) AR 614883
Peroxisome biogenesis disorder 11B AR 614885
Peroxisome biogenesis disorder 12A (Zellweger) AR 614886
Peroxisome biogenesis disorder 13A (Zellweger) AR 614887
Peroxisome Biogenesis Disorder 14B AR 614920
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Peroxisome biogenesis disorder 2A (Zellweger) AR 214110
Peroxisome biogenesis disorder 2B AR 202370
Peroxisome biogenesis disorder 3A (Zellweger) AR 614859
Peroxisome biogenesis disorder 3B AR 266510
Peroxisome biogenesis disorder 4A (Zellweger) AR 614862
Peroxisome biogenesis disorder 4B AR 614863
Peroxisome biogenesis disorder 5A (Zellweger) AR 614866
Peroxisome biogenesis disorder 5B AR 614867
Peroxisome biogenesis disorder 6A (Zellweger) AR 614870
Peroxisome biogenesis disorder 6B AR 614871
Peroxisome biogenesis disorder 7A (Zellweger) AR 614872
Peroxisome biogenesis disorder 7B AR 614873
Peroxisome biogenesis disorder 8A, (Zellweger) AR 614876
Peroxisome biogenesis disorder 8B AR 614877
Peroxisome Biogenesis Disorder 9B AR 614879
Phosphoglycerate Kinase 1 Deficiency XL 300653
Pigmentary Retinal Dystrophy AR, AD 136880
Pigmented Paravenous Chorioretinal Atrophy AD 172870
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract AR 612674
Poretti-Boltshauser Syndrome AR 615960
Posterior Column Ataxia With Retinitis Pigmentosa AR 609033
Prolonged Electroretinal Response Suppression AR 608415
Refsum Disease, Classic AR 266500
Renal Dysplasia And Retinal Aplasia AR 266900
Retinal Cone Dystrophy 3B AR 610356
Retinal Cone Dystrophy 4 AR 610478
Retinal Dystrophy and Iris Coloboma with or without Cataract AD 616722
Retinal Dystrophy and Obesity AR 616188
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities AD 616079
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome AR 615147
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome AR 616108
Retinitis Pigmentosa AD, AR, XL 268000
Retinitis Pigmentosa 1 AR, AD 180100
Retinitis Pigmentosa 10 AD 180105
Retinitis Pigmentosa 11 AD 600138
Retinitis Pigmentosa 12 AR 600105
Retinitis Pigmentosa 13 AD 600059
Retinitis Pigmentosa 14 AR 600132
Retinitis Pigmentosa 15 XL 300029
Retinitis Pigmentosa 17 AD 600852
Retinitis Pigmentosa 18 AD 601414
Retinitis Pigmentosa 19 AR 601718
Retinitis Pigmentosa 2 XL 312600
Retinitis Pigmentosa 20 AR 613794
Retinitis Pigmentosa 23 XL 300424
Retinitis Pigmentosa 25 AR 602772
Retinitis Pigmentosa 26 AR 608380
Retinitis Pigmentosa 27 AD 613750
Retinitis Pigmentosa 28 AR 606068
Retinitis Pigmentosa 30 AD 607921
Retinitis Pigmentosa 31 AD 609923
Retinitis Pigmentosa 33 AD 610359
Retinitis Pigmentosa 35 AR, AD 610282
Retinitis Pigmentosa 36 AR 610599
Retinitis Pigmentosa 37 AR, AD 611131
Retinitis Pigmentosa 38 AR 613862
Retinitis Pigmentosa 39 AR 613809
Retinitis Pigmentosa 4 AR, AD 613731
Retinitis Pigmentosa 40 AR 613801
Retinitis Pigmentosa 41 AR 612095
Retinitis Pigmentosa 42 AD 612943
Retinitis Pigmentosa 43 AR 613810
Retinitis Pigmentosa 44 AR, AD 613769
Retinitis Pigmentosa 45 AR 613767
Retinitis Pigmentosa 46 AR 612572
Retinitis Pigmentosa 47 AR 613758
Retinitis Pigmentosa 48 AD 613827
Retinitis Pigmentosa 49 AR 613756
Retinitis Pigmentosa 50 AR, AD 613194
Retinitis Pigmentosa 51 AR 613464
Retinitis Pigmentosa 54 AR 613428
Retinitis Pigmentosa 55 AR 613575
Retinitis Pigmentosa 56 AR 613581
Retinitis Pigmentosa 57 AR 613582
Retinitis Pigmentosa 58 AR 613617
Retinitis Pigmentosa 59 AR 613861
Retinitis Pigmentosa 60 AD 613983
Retinitis Pigmentosa 61 AR 614180
Retinitis Pigmentosa 62 AR 614181
Retinitis Pigmentosa 66 AR 615233
Retinitis Pigmentosa 67 AR 615565
Retinitis Pigmentosa 68 AR 615725
Retinitis Pigmentosa 69 AR 615780
Retinitis Pigmentosa 7 AR, AD 608133
Retinitis Pigmentosa 70 AD 615922
Retinitis Pigmentosa 71 AR 616394
Retinitis Pigmentosa 72 AR 616469
Retinitis Pigmentosa 73 AR 616544
Retinitis Pigmentosa 74 AR 616562
Retinitis Pigmentosa 75 AR 617023
Retinitis Pigmentosa and Erythrocytic Microcytosis AR 616959
Retinitis Pigmentosa with or without Situs Inversus AR 615434
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness XL 300455
Retinoschisis 1, X-Linked, Juvenile XL 312700
Senior-Loken Syndrome 4 AR 606996
Senior-Loken Syndrome 6 AR 610189
Senior-Loken Syndrome 7 AR 613615
Senior-Loken Syndrome 8 AR 616307
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly AR 614091
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly AR 266920
Sorsby Fondus Dystrophy AD 136900
Spastic Paraplegia 39 AR 612020
Spinocerebellar Ataxia 7 AD 164500
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy AR 608940
Stargardt Disease 1 AR 248200
Stargardt Disease 3 AD 600110
Stargardt Disease 4 AD 603786
Stickler Syndrome, Type 2 AD 604841
Stickler Syndrome, Type 4 AR 614134
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Sveinsson Chorioretinal Atrophy AD 108985
Usher Syndrome Type 3B AR 614504
Usher Syndrome, Type 1 AR 276900
Usher Syndrome, Type 1D AR 601067
Usher Syndrome, Type 1F AR 602083
Usher Syndrome, Type 2C AR 605472
Usher Syndrome, Type 2D AR 611383
Usher Syndrome, Type Ic AR 276904
Usher Syndrome, Type Ig AR 606943
Usher Syndrome, Type IJ AR 614869
Vasculopathy, Retinal, With Cerebral Leukodystrophy AD 192315
Vitelliform Dystrophy AD 153700
Vitreoretinochoroidopathy Dominant AD 193220
Vitreoretinopathy, Neovascular Inflammatory AD 193235
Wolfram Syndrome 2 AR 604928

Related Tests

Name
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene
OFD1-Related Disorders via the OFD1 Gene
PDE6B Related Disorders via the PDE6B Gene
RHO-Related Disorders via the RHO Gene
RLBP1-Related Disorders via the RLBP1 Gene
TULP1-Associated Disorders via the TULP1 Gene
WFS1-Related Disorders via the WFS1 Gene
Achromatopsia (ACHM) Sequencing Panel
Achromatopsia via the CNGB3 Gene
Achromatopsia via the PDE6C Gene
Alagille Syndrome Sequencing Panel
Alagille Syndrome-1 via the JAG1 Gene
Alstrom Syndrome via the ALMS1 Gene
Amelogenesis Imperfecta Sequencing Panel with CNV Detection
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via the GUCA1A Gene
Autosomal Dominant Cone-Rod Dystrophy via the RIMS1 Gene
Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via the CA4 Gene
Autosomal Dominant Retinitis pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via the NRL Gene
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via the TOPORS Gene
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via the GUCA1B Gene
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection
Autosomal Dominant Retinitis Pigmentosa via PRPF6 Gene Sequencing with CNV Detection
Autosomal Dominant Retinitis Pigmentosa via SNRNP200 Gene Sequencing with CNV Detection
Autosomal Dominant Stargardt disease (STGD3) via the ELOVL4 Gene
Autosomal Recessive Retinitis Pigmentosa 26 (RP26) via the CERKL Gene
Autosomal Recessive Retinitis Pigmentosa 36 (RP36) via the PRCD Gene
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene
Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 Gene
Bardet-Biedl Syndrome Sequencing Panel
Bardet-Biedl Syndrome via the BBS1 Gene
Bardet-Biedl Syndrome via the BBS10 Gene
Bardet-Biedl Syndrome via the BBS12 Gene
Bardet-Biedl Syndrome via the BBS4 Gene
Bardet-Biedl Syndrome via the BBS5 Gene
Bardet-Biedl Syndrome via the BBS7 Gene
Bardet-Biedl Syndrome via the BBS9 Gene
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene
Bardet-Biedl Syndrome via the TRIM32/BBS11 Gene
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via the NR2F1 Gene
Cholestasis Sequencing Panel
Choroideremia via the CHM Gene
Ciliopathy Sequencing Panel
Cohen Syndrome via the VPS13B (COH1) Gene
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection
Comprehensive Cardiology Sequencing Panel with CNV Detection
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene
Cone-Rod Dystrophy (CRD11) via the Rax2 (Qrx) Gene
Cone-Rod Dystrophy and Retinitis Pigmentosa via the C8orf37 Gene
Cone-Rod Dystrophy Sequencing Panel
Cone-Rod Dystrophy via the ADAM9 Gene
Cone-Rod Dystrophy via the CACNA2D4 Gene
Cone-Rod Dystrophy via the CDHR1 Gene
Cone-Rod Dystrophy via the CNNM4 Gene
Cone-Rod Dystrophy via the KCNV2 Gene
Cone-Rod Dystrophy via the PITPNM3 Gene
Cone-Rod Dystrophy via the UNC119 Gene
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection
Disorders of Sex Development Sequencing Panel with CNV Detection
Early Infantile Epileptic Encephalopathy Sequencing Panel
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel
Familial Exudative Vitreoretinopathy 1 (FEVR1) via the FZD4 Gene
Familial Exudative Vitreoretinopathy 5 (FEVR5) via the TSPAN12 Gene
Female Infertility Sequencing Panel with CNV Detection
Fetal Concerns Sequencing Panel with CNV Detection
Flecked Retina Disorder Sequencing Panel with CNV Detection
Fundus Albipunctatus With or Without Cone Dystrophy via the RDH5 Gene
Gyrate Atrophy of Choroid and Retina via the OAT Gene
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel
Hyperammonemia Sequencing Panel
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene
Joubert and Meckel-Gruber Syndromes Sequencing Panel
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene
Joubert and Meckel-Gruber Syndromes via the CEP290 Gene
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene
Joubert Syndrome via the AHI1 Gene
Joubert Syndrome via the ARL13B Gene
Joubert Syndrome via the C5orf42 Gene
Joubert Syndrome via the TMEM138 Gene
Joubert Syndrome via the TMEM216 Gene
Joubert Syndrome via the TMEM237 Gene
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via the GUCY2D Gene
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene
Leber Congenital Amaurosis 13 (LCA13), Retinitis Pigmentosa 53 (RP53) and Early Onset Cone-Rod Dystrophy (CORD) via the RDH12 Gene
Leber congenital amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis pigmentosa via the LRAT Gene
Leber Congenital Amaurosis 2 (LCA2) and Retinitis Pigmentosa 20 (RP20) via the RPE65 Gene
Leber Congenital Amaurosis 4 (LCA4) via the AIPL1 Gene
Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene
Leber Congenital Amaurosis Sequencing Panel with CNV Detection
Leber Congenital Amaurosis via the CRX Gene
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via the EFEMP1 Gene
Male Infertility Sequencing Panel with CNV Detection
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel
NDP-Related Vitreoretinopathies via the NDP gene
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel
Nephronophthisis and Senior-Loken Syndrome via the CEP164 Gene
Nephronophthisis via the INVS / NPHP2 Gene
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel
Neuronal Ceroid Lipofuscinosis 1 via the PPT1 Gene
Neuronal Ceroid Lipofuscinosis 10 via the CTSD Gene
Neuronal Ceroid Lipofuscinosis 2 via the TPP1 Gene
Neuronal Ceroid Lipofuscinosis 4 via the DNAJC5 Gene
Neuronal Ceroid Lipofuscinosis 5 via the CLN5 Gene
Neuronal Ceroid Lipofuscinosis 6 via the CLN6 Gene
Neuronal Ceroid Lipofuscinosis 7 via the MFSD8 Gene
Neuronal Ceroid Lipofuscinosis 8 via the CLN8 Gene
Oguchi Disease and Retinitis Pigmentosa (RP47) via the SAG Gene
Optic Atrophy 7 (OPA7) via the TMEM126A Gene
Optic Atrophy Sequencing Panel
Pan Cardiomyopathy Sequencing Panel with CNV Detection
Peroxisomal Disorders Sequencing Panel
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX10 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX11B Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX12 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX13 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX19 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX2 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX6 Gene
Phosphoglycerate Kinase Deficiency via the PGK1 Gene
Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Sequencing Panel
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection
Retinitis Pigmentosa 35 (RP35) and Cone-Rod Dystrophy 10 (CORD10) via the SEMA4A Gene
Retinitis Pigmentosa 38 (RP38) via the MERTK Gene
Retinitis Pigmentosa 58 (RP58) via the ZNF513 Gene
Retinitis Pigmentosa 7 via the ROM1 Gene
Retinitis Pigmentosa via the CNGA1 Gene
Retinitis Pigmentosa via the CNGB1 Gene
Retinitis Pigmentosa via the IMPDH1 Gene
Retinitis Pigmentosa via the NR2E3 Gene
Retinitis Pigmentosa via the PDE6A Gene
Retinitis Pigmentosa via the PRPF3 Gene
Retinitis Pigmentosa via the PRPF31 Gene
Retinitis Pigmentosa via the PRPF8 Gene
Retinitis Pigmentosa via the PRPH2 (RDS) Gene
Retinitis Pigmentosa via the RP1 Gene
Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene
Short Rib Skeletal Dysplasia Sequencing Panel
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection
Sorsby Fundus Dystrophy via the TIMP3 Gene
Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection
Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene
Stickler Syndrome Sequencing Panel
Stickler Syndrome Type II, Marshall Syndrome, and Fibrochondrogenesis via the COL11A1 Gene
Urea Cycle Disorders Sequencing Panel
Vitreoretinopathy Sequencing Panel
Wolfram Syndrome Sanger Sequencing Panel
Wolfram Syndrome Type 2 via the CISD2 Gene
X-Linked Adrenoleukodystrophy via the ABCD1 Gene
X-Linked Intellectual Disability Sequencing Panel with CNV Detection
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel
X-linked Retinitis Pigmentosa (XLRP) via the RP2 Gene
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene

CONTACTS

Genetic Counselors
Geneticist
Citations
  • Abouzeid et al. 2006. PubMed ID: 16543197
  • Bowne et al. 2006. PubMed ID: 16384941
  • Chen et al. 2013. PubMed ID: 23661368
  • Ellingford et al. 2016. PubMed ID: 27208204
  • Fahim et al. 2013. PubMed ID: 20301590
  • Glöckle et al. 2014. PubMed ID: 23591405
  • Hanein et al. 2002. PubMed ID: 12325031
  • Hejtmancik et al. 2008. PubMed ID: 18179896
  • Henderson et al. 2009. PubMed ID: 19956411
  • Human Gene Mutation Database (Bio-base).
  • Kohl et al. 2012. PubMed ID: 22901948
  • McKay et al. 2005. PubMed ID: 15623792
  • Online Mendelian Inheritance in Man: http://www.omim.org/
  • Perrault et al. 2000. PubMed ID: 10951519
  • Piri et al. 2005. PubMed ID: 15629837
  • RetNet: Genes and Mapped Loci Causing Retinal Diseases
  • Sahel et al. 2014. PubMed ID: 25324231
  • Sullivan et al. 2006. PubMed ID: 17003455
  • Swaroop et al. 1999. PubMed ID: 9931337
  • Udar et al. 2003. PubMed ID: 12552567
  • van den Hurk et al. 2003. PubMed ID: 12827496
  • Wang et al. 2013. PubMed ID: 23847139
  • Wang et al. 2015. PubMed ID: 26047050
  • Weleber et al. 2013. PubMed ID: 20301475
  • Weleber. 2002. PubMed ID: 12187427
  • Yatsenko et al. 2003. PubMed ID: 12754711
  • Zhao et al. 2006. PubMed ID: 16612614
Order Kits
TEST METHODS

Exome Sequencing with CNV Detection

Test Procedure

For the PGxome we use Next Generation Sequencing (NGS) technologies to cover the coding regions of targeted genes plus ~10 bases of non-coding DNA flanking each exon. As required, genomic DNA is extracted from patient specimens. Patient DNA corresponding to these regions is captured using Agilent Clinical Research Exome hybridization probes. Captured DNA is sequenced on the NovaSeq 6000 using 2x150 bp paired-end reads (Illumina, San Diego, CA, USA). The following quality control metrics are generally achieved: >97% of target bases are covered at >20x, and mean coverage of target bases >120x. Data analysis and interpretation is performed by the internally developed software Titanium-Exome. In brief, the output data from the NovaSeq 6000 is converted to fastqs by Illumina Bcl2Fastq, and mapped by BWA. Variant calls are made by the GATK Haplotype caller and annotated using in house software and SnpEff. Variants are filtered and annotated using VarSeq (www.goldenhelix.com). Common benign, likely benign, and low quality variants are filtered from analysis. All reported pathogenic, likely pathogenic, and variants of uncertain significance are confirmed by Sanger sequencing.

For Sanger sequencing, polymerase chain reaction (PCR) is used to amplify targeted regions. After purification of the PCR products, cycle sequencing is carried out using the ABI Big Dye Terminator v.3.0 kit. PCR products are resolved by electrophoresis on an ABI 3730xl capillary sequencer. In nearly all cases, cycle sequencing is performed separately in both the forward and reverse directions.

Copy number variants (CNVs) are also detected from NGS data. We utilize a CNV calling algorithm that compares mean read depth and distribution for each target in the test sample against multiple matched controls. Neighboring target read depth and distribution and zygosity of any variants within each target region are used to reinforce CNV calls. All CNVs are confirmed using another technology such as aCGH, MLPA, or PCR before they are reported.

Analytical Validity

Copy Number Variant Analysis: The PGxome test detects most larger deletions and duplications including intragenic CNVs and large cytogenetic events; however aberrations in a small percentage of regions may not be accurately detected due to sequence paralogy (e.g., pseudogenes, segmental duplications), sequence properties, deletion/duplication size (e.g., 1-3 exons vs. 4 or more exons), and inadequate coverage. In general, sensitivity for single, double, or triple exon CNVs is ~70% and for CNVs of four exon size or larger is close to 100%, but may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region.

Analytical Limitations

Interpretation of the test results is limited by the information that is currently available. Better interpretation should be possible in the future as more data and knowledge about human genetics and this specific disorder are accumulated.

When sequencing does not reveal any heterozygous differences from the reference sequence, we cannot be certain that we were able to detect both patient alleles.

For technical reasons, the PGxome test is not 100% sensitive. Some exons cannot be efficiently captured, and some genes cannot be accurately sequenced because of the presence of multiple copies in the genome. Therefore, a small fraction of sequence variants will not be detected.

We sequence coding exons for most given transcripts, plus ~10 bp of flanking non-coding DNA for each exon. Unless specifically indicated, test reports contain no information about other portions of the gene, such as regulatory domains, deep intronic regions, uncharacterized alternative exons, chromosomal rearrangements, repeat expansions, epigenetic effects, and mitochondrial genome variants.

In most cases, we are unable to determine the phase of sequence variants. In particular, when we find two likely causative mutations for recessive disorders, we cannot be certain that the mutations are on different alleles.

Our ability to detect minor sequence variants due to somatic mosaicism is limited. Sequence variants that are present in less than 50% of the patient's nucleated cells may not be detected.

Runs of mononucleotide repeats (eg (A)n or (T)n) with n >8 in the reference sequence are generally not analyzed because of strand slippage during amplification.

Unless otherwise indicated, DNA sequence data is obtained from a specific cell-type (usually leukocytes if taken from whole blood). Test reports contain no information about the DNA sequence in other cell-types.

We cannot be certain that the reference sequences are correct.

Balanced translocations or inversions are only rarely detected.

Certain types of sex chromosome aneuploidy may not be detected.  

In nearly all cases, our ability to determine the exact copy number change within a targeted region is limited.

Our ability to detect CNVs due to somatic mosaicism is limited.

We have confidence in our ability to track a specimen once it has been received by PreventionGenetics. However, we take no responsibility for any specimen labeling errors that occur before the sample arrives at PreventionGenetics.

A negative finding does not rule out a genetic diagnosis.

Genetic counseling to help to explain test results to the patients and to discuss reproductive options is recommended.

Order Kits

Ordering Options


myPrevent - Online Ordering
  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
REQUISITION FORM
  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

SPECIMEN TYPES
WHOLE BLOOD

(Delivery accepted Monday - Saturday)

  • Collect 3 ml -5 ml (5 ml preferred) of whole blood in EDTA (purple top tube) or ACD (yellow top tube). For Test #500-DNA Banking only, collect 10 ml -20 ml of whole blood.
  • For small babies, we require a minimum of 1 ml of blood.
  • Only one blood tube is required for multiple tests.
  • Ship blood tubes at room temperature in an insulated container. Do not freeze blood.
  • During hot weather, include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube.
  • In cold weather, include an unfrozen ice pack in the shipping container as insulation.
  • At room temperature, blood specimen is stable for up to 48 hours.
  • If refrigerated, blood specimen is stable for up to one week.
  • Label the tube with the patient name, date of birth and/or ID number.

DNA

(Delivery accepted Monday - Saturday)

  • Send in screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml for NGS and Sanger tests and at least 5 µg of purified DNA at a concentration of at least 100 µg/ml for gene-centric aCGH, MLPA, and CMA tests, minimum 2 µg for limited specimens.
  • For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible.
  • DNA may be shipped at room temperature.
  • Label the tube with the composition of the solute, DNA concentration as well as the patient’s name, date of birth, and/or ID number.
  • We only accept genomic DNA for testing. We do NOT accept products of whole genome amplification reactions or other amplification reactions.

CELL CULTURE

(Delivery preferred Monday - Thursday)

  • PreventionGenetics should be notified in advance of arrival of a cell culture.
  • Culture and send at least two T25 flasks of confluent cells.
  • Some panels may require additional flasks (dependent on size of genes, amount of Sanger sequencing required, etc.). Multiple test requests may also require additional flasks. Please contact us for details.
  • Send specimens in insulated, shatterproof container overnight.
  • Cell cultures may be shipped at room temperature or refrigerated.
  • Label the flasks with the patient name, date of birth, and/or ID number.
  • We strongly recommend maintaining a local back-up culture. We do not culture cells.
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