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  • Test code: 72100
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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Invitae Inherited Retinal Disorders Panel

Test description

The Invitae Inherited Retinal Disorders Panel analyzes genes that are associated with inherited retinal disorders including but not limited to retinitis pigmentosa, cone-rod dystrophy and Leber congenital amaurosis. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis and provide information for recurrence-risk estimation and genetic counseling.

This assay does not currently include the RPGR gene. Pathogenic variants in the RPGR gene account for the majority (70-90%) of X-linked retinitis pigmentosa (XLRP). Additional testing for the RPGR gene should be considered, if not yet performed and clinically appropriate.

*This test is specifically designed for heritable germline mutations and has assay limitations that are different from most of our other diagnostic panels. Please see the Assay section below for more details.

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Primary panel (293 genes)

ABCA4 ABCC6 ABHD12 ACBD5 ACO2 ADAM9 ADAMTS18 ADGRA3 ADGRV1 ADIPOR1 AGBL5 AHI1 AHR AIPL1 ALMS1 ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSG ASRGL1 ATF6 ATOH7 B9D1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 C1QTNF5 C8orf37 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CC2D2A CCT2 CDH23 CDH3 CDHR1 CEP164 CEP19 CEP250 CEP290 CEP41 CEP78 CEP83 CERKL CFAP410 CHM CIB2 CISD2 CLCC1 CLN2 (TPP1) CLN3 CLRN1 CLUAP1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL11A1 COL11A2 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 CPLANE1 CRB1 CRX CSPP1 CTNNA1 CWC27 CYP4V2 DHDDS DHX38 DRAM2 DTHD1 EFEMP1 ELOVL4 EMC1 EXOSC2 EYS FAM161A FLVCR1 FRMD7 FSCN2 FZD4 GDF6 GNAT1 GNAT2 GNB3 GNPTG GPR143 GPR179 GRM6 GUCA1A GUCA1B GUCY2D HARS HGSNAT HK1 HMX1 IDH3A IDH3B IFT140 IFT172 IFT27 IFT43 IFT80 IFT81 IMPDH1 IMPG1 IMPG2 INPP5E INVS IQCB1 JAG1 KCNJ13 KCNV2 KIAA0586 KIAA1549 KIF11 KIF7 KIZ KLHL7 LCA5 LRAT LRIT3 LRP2 LRP5 LZTFL1 MAK MAPKAPK3 MERTK MFN2 MFRP MKKS MKS1 MPDZ MTTP MYO7A NDP NEK2 NEUROD1 NMNAT1 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NRL NYX OAT OCA2 OFD1 OPA1 OPA3 OPN1SW OTX2 P3H2 PAX2 PAX6 PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PITPNM3 PLA2G5 PLK4 PNPLA6 POC1B POMGNT1 PRCD PRDM13 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 RAB28 RAX2 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RLBP1 ROM1 RP1 RP1L1 RP2 RPE65 RPGRIP1 RPGRIP1L RS1 RTN4IP1 SAG SAMD11 SCLT1 SDCCAG8 SEMA4A SLC24A1 SLC45A2 SLC7A14 SNRNP200 SPATA7 SPP2 TCTN1 TCTN2 TCTN3 TEAD1 TIMM8A TIMP3 TMEM107 TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TOPORS TRAF3IP1 TREX1 TRIM32 TRNT1 TRPM1 TSPAN12 TTC21B TTC8 TTLL5 TTPA TUB TUBGCP4 TUBGCP6 TULP1 TYR TYRP1 UNC119 USH1C USH1G USH2A VCAN VPS13B WDPCP WDR19 WFS1 WHRN ZNF408 ZNF423 ZNF513

Individual Disorders Tested

  • Inherited Retinal Dystrophy
    • Retinitis pigmentosa (RP)
    • Cone-Rod Dystrophy (CRD)
    • Leber congenital amaurosis (LCA)
    • Congenital non-progressive cone-rod synaptic disorder (CRSD)
  • Achromatopsia
  • Bietti crystalline corneoretinal dystrophy (BCD)
  • Choroideremia
  • Congenital nystagmus type 1
  • Congenital stationary night blindness (CSNB)
  • Early and Late onset Retinal degeneration
  • Enhanced S-cone syndrome
  • Familial exudative vitreoretinopathy (FEVR)
  • Fundus albipunctatus (FA)
  • Gyrate atrophy of choroid and retina
  • Isolated microphthalmia
  • Juvenile retinoschisis
  • Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)
  • Microcephaly with chorioretinopathy
  • Microphthalmia, anophthalmia, coloboma (MAC) spectrum
  • Myopia with cataract and vitreoretinal degeneration
  • Neovascular inflammatory vitreoretinopathy (ADNIV)
  • Optic atrophy
  • Persistent hyperplastic primary vitreous (PHPVAR)
  • Snowflake vitreoretinal degeneration
  • Stargardt disease
  • Sveinsson chorioretinal atrophy (SCRA)
  • Vitelliform macular dystrophy (VMD1)

Inherited retinal dystrophy (IRD) can also present as part of a syndromic condition including:

  • Abetalipoproteinemia
  • Alagille syndrome
  • Asphyxiating thoracic dystrophy
  • Axial spondylometaphyseal dysplasia (SMDAX)
  • Bardet-Biedl syndrome (BBS)
  • Bradyopsia
  • Charcot-Marie-Tooth disease, type 2W
  • CIB2-related non-syndromic deafness
  • Cohen syndrome
  • Hypotrichosis with juvenile macular dystrophy (HJMD)
  • Infantile cerebellar-retinal degeneration (ICRD)
  • Joubert syndrome and related disorders (JSRD)
  • Jalili syndrome
  • Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLID) Mucolipidosis type III gamma
  • Mucopolysaccharidosis type IIIC (MPS IIIC or Sanfilippo C)
  • Muscular dystrophy-dystroglycanopathy
  • Nephronophthisis (NPHP)
  • Neuronal ceroid lipofuscinosis type 3
  • NEUROD1-related early onset diabetes
  • Oculoauricular syndrome
  • Oguchi disease type 1
  • Osteoporosis-pseudoglioma syndrome (OPPG)
  • PDZD7-related nonsyndromic deafness
  • PNPLA6-related neurological syndromes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
  • Refsum disease
  • Rhizomelic chondrodysplasia punctata (RCDP)
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
  • Spondylometaphyseal dysplasia with cone-rod dystrophy
  • Stickler syndrome
  • Usher syndrome
  • Wagner syndrome
  • Zellweger spectrum disorder (ZSD)

To view the complete clinical description of this panel, click here.

Inherited retinal disorders can occur in several inheritance patterns including autosomal dominant, autosomal recessive, and X-linked.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ABCA4 NM_000350.2
ABCC6* NM_001171.5
ABHD12* NM_001042472.2
ACBD5 NM_145698.4
ACO2 NM_001098.2
ADAM9 NM_003816.2
ADAMTS18 NM_199355.3
ADGRA3 NM_145290.3
ADGRV1 NM_032119.3
ADIPOR1 NM_015999.5
AGBL5 NM_021831.5
AHI1 NM_017651.4
AHR NM_001621.4
AIPL1 NM_014336.4
ALMS1 NM_015120.4
ARHGEF18 NM_001130955.1
ARL13B NM_182896.2
ARL2BP NM_012106.3
ARL3 NM_004311.3
ARL6 NM_177976.2
ARMC9* NM_001271466.2
ARSG NM_014960.4
ASRGL1 NM_001083926.1
ATF6 NM_007348.3
ATOH7 NM_145178.3
B9D1 NM_015681.3
BBIP1 NM_001195306.1
BBS1 NM_024649.4
BBS10 NM_024685.3
BBS12 NM_152618.2
BBS2 NM_031885.3
BBS4 NM_033028.4
BBS5 NM_152384.2
BBS7 NM_176824.2
BBS9* NM_198428.2
BEST1 NM_004183.3
C1QTNF5 NM_015645.4
C8orf37 NM_177965.3
CA4 NM_000717.4
CABP4 NM_145200.3
CACNA1F NM_005183.3
CACNA2D4 NM_172364.4
CAPN5 NM_004055.4
CC2D2A NM_001080522.2
CCT2 NM_006431.2
CDH23 NM_022124.5
CDH3 NM_001793.5
CDHR1 NM_033100.3
CEP164 NM_014956.4
CEP19 NM_032898.4
CEP250 NM_007186.5
CEP290 NM_025114.3
CEP41 NM_018718.2
CEP78 NM_001098802.1
CEP83 NM_016122.2
CERKL NM_001030311.2
CFAP410 NM_004928.2
CHM NM_000390.2
CIB2 NM_006383.3
CISD2 NM_001008388.4
CLCC1 NM_001048210.2
CLN2 (TPP1) NM_000391.3
CLN3 NM_001042432.1
CLRN1 NM_174878.2
CLUAP1 NM_015041.2
CNGA1 NM_000087.3
CNGA3 NM_001298.2
CNGB1 NM_001297.4
CNGB3 NM_019098.4
CNNM4 NM_020184.3
COL11A1* NM_001854.3
COL11A2 NM_080680.2
COL18A1 NM_130445.3, NM_030582.3
COL2A1 NM_001844.4
COL9A1 NM_001851.4
COL9A2 NM_001852.3
COL9A3 NM_001853.3
CPLANE1 NM_023073.3
CRB1 NM_201253.2
CRX NM_000554.4
CSPP1 NM_024790.6
CTNNA1 NM_001903.3
CWC27 NM_005869.3
CYP4V2 NM_207352.3
DHDDS NM_024887.3
DHX38 NM_014003.3
DRAM2 NM_178454.4
DTHD1 NM_001136536.4
EFEMP1 NM_001039348.2
ELOVL4 NM_022726.3
EMC1 NM_015047.2
EXOSC2 NM_014285.6
EYS NM_001142800.1
FAM161A NM_001201543.1
FLVCR1 NM_014053.3
FRMD7 NM_194277.2
FSCN2 NM_001077182.2
FZD4 NM_012193.3
GDF6 NM_001001557.2
GNAT1 NM_144499.2
GNAT2 NM_005272.3
GNB3 NM_002075.3
GNPTG NM_032520.4
GPR143 NM_000273.2
GPR179 NM_001004334.3
GRM6 NM_000843.3
GUCA1A NM_000409.4
GUCA1B NM_002098.5
GUCY2D NM_000180.3
HARS NM_002109.5
HGSNAT NM_152419.2
HK1 NM_000188.2
HMX1 NM_018942.2
IDH3A NM_005530.2
IDH3B NM_006899.4
IFT140 NM_014714.3
IFT172 NM_015662.2
IFT27 NM_006860.4
IFT43 NM_052873.2
IFT80 NM_020800.2
IFT81 NM_014055.3
IMPDH1 NM_000883.3
IMPG1 NM_001563.3
IMPG2 NM_016247.3
INPP5E NM_019892.4
INVS NM_014425.3
IQCB1 NM_001023570.2
JAG1 NM_000214.2
KCNJ13 NM_002242.4
KCNV2 NM_133497.3
KIAA0586 NM_001244189.1
KIAA1549 NM_001164665.1
KIF11 NM_004523.3
KIF7 NM_198525.2
KIZ NM_018474.4
KLHL7 NM_001031710.2
LCA5 NM_181714.3
LRAT NM_004744.4
LRIT3 NM_198506.4
LRP2 NM_004525.2
LRP5 NM_002335.3
LZTFL1 NM_020347.3
MAK NM_001242957.2
MAPKAPK3 NM_001243926.1
MERTK NM_006343.2
MFN2 NM_014874.3
MFRP NM_031433.3
MKKS NM_018848.3
MKS1 NM_017777.3
MPDZ NM_003829.4
MTTP NM_000253.3
MYO7A NM_000260.3
NDP NM_000266.3
NEK2 NM_002497.3
NEUROD1 NM_002500.4
NMNAT1 NM_022787.3
NPHP1 NM_000272.3
NPHP3 NM_153240.4
NPHP4 NM_015102.4
NR2E3 NM_014249.3
NR2F1 NM_005654.5
NRL NM_006177.3
NYX NM_022567.2
OAT* NM_000274.3
OCA2 NM_000275.2
OFD1 NM_003611.2
OPA1 NM_015560.2, NM_130837.2
OPA3 NM_025136.3
OPN1SW NM_001708.2
OTX2 NM_172337.2
P3H2 NM_018192.3
PAX2 NM_003988.3
PAX6 NM_000280.4
PCARE NM_001029883.2
PCDH15 NM_033056.3
PCYT1A NM_005017.3
PDE6A NM_000440.2
PDE6B NM_000283.3
PDE6C NM_006204.3
PDE6D NM_002601.3
PDE6G NM_002602.3
PDE6H NM_006205.2
PDZD7 NM_001195263.1
PEX1 NM_000466.2
PEX10 NM_153818.1
PEX11B NM_003846.2
PEX12 NM_000286.2
PEX13 NM_002618.3
PEX14 NM_004565.2
PEX16 NM_004813.2
PEX19 NM_002857.3
PEX2 NM_000318.2
PEX26 NM_017929.5
PEX3 NM_003630.2
PEX5 NM_001131025.1
PEX6 NM_000287.3
PEX7 NM_000288.3
PHYH NM_006214.3
PITPNM3 NM_031220.3
PLA2G5 NM_000929.2
PLK4 NM_014264.4
PNPLA6 NM_006702.4
POC1B NM_172240.2
POMGNT1 NM_017739.3
PRCD NM_001077620.2
PRDM13 NM_021620.3
PROM1 NM_006017.2
PRPF3 NM_004698.2
PRPF31 NM_015629.3
PRPF4 NM_004697.4
PRPF6 NM_012469.3
PRPF8 NM_006445.3
PRPH2 NM_000322.4
PRPS1 NM_002764.3
RAB28 NM_004249.3
RAX2 NM_032753.3
RBP3 NM_002900.2
RBP4 NM_006744.3
RCBTB1 NM_018191.3
RD3 NM_183059.2
RDH11 NM_016026.3
RDH12 NM_152443.2
RDH5 NM_002905.3
REEP6 NM_001329556.1
RGR NM_001012720.1
RGS9 NM_003835.3
RGS9BP NM_207391.2
RHO NM_000539.3
RIMS1 NM_014989.5
RLBP1 NM_000326.4
ROM1 NM_000327.3
RP1 NM_006269.1
RP1L1* NM_178857.5
RP2 NM_006915.2
RPE65 NM_000329.2
RPGRIP1 NM_020366.3
RPGRIP1L NM_015272.2
RS1 NM_000330.3
RTN4IP1 NM_032730.4
SAG NM_000541.4
SAMD11 NM_152486.2
SCLT1 NM_144643.3
SDCCAG8 NM_006642.3
SEMA4A NM_022367.3
SLC24A1 NM_004727.2
SLC45A2 NM_016180.4
SLC7A14 NM_020949.2
SNRNP200 NM_014014.4
SPATA7 NM_018418.4
SPP2 NM_006944.2
TCTN1 NM_001082538.2
TCTN2 NM_024809.4
TCTN3 NM_015631.5
TEAD1 NM_021961.5
TIMM8A NM_004085.3
TIMP3 NM_000362.4
TMEM107 NM_032354.3
TMEM126A NM_032273.3
TMEM138 NM_016464.4
TMEM216 NM_001173990.2
TMEM231 NM_001077416.2
TMEM237 NM_001044385.2
TMEM67 NM_153704.5
TOPORS NM_005802.4
TRAF3IP1 NM_015650.3
TREX1 NM_033629.4
TRIM32 NM_012210.3
TRNT1 NM_182916.2
TRPM1 NM_002420.5
TSPAN12 NM_012338.3
TTC21B NM_024753.4
TTC8 NM_198309.3
TTLL5 NM_015072.4
TTPA NM_000370.3
TUB NM_003320.4
TUBGCP4 NM_001286414.2
TUBGCP6 NM_020461.3
TULP1 NM_003322.4
TYR* NM_000372.4
TYRP1 NM_000550.2
UNC119 NM_005148.3
USH1C* NM_005709.3
USH1G NM_173477.4
USH2A NM_206933.2
VCAN NM_004385.4
VPS13B NM_017890.4
WDPCP NM_015910.5
WDR19 NM_025132.3
WFS1 NM_006005.3
WHRN NM_015404.3
ZNF408 NM_024741.2
ZNF423 NM_015069.3
ZNF513 NM_144631.5

ABCC6: Deletion/duplication and sequencing analysis is not offered for exons 1-9.
ABHD12:
ARMC9: Deletion/duplication analysis is not offered for exons 1-2, 5-6.
BBS9: Deletion/duplication analysis is not offered for exon 4.
COL11A1: Deletion/duplication analysis is not offered for exons 16-17 and sequencing analysis is not offered for exon 57.
OAT: Deletion/duplication analysis is not offered for exon 2.
RP1L1: Sequencing analysis is not offered for exon 4.
TYR: Deletion/duplication and sequencing analysis is not offered for exon 5.
USH1C: Deletion/duplication analysis is not offered for exons 5-6.