Invitae Inherited Retinal Disorders Panel

Test description

The Invitae Inherited Retinal Disorders Panel analyzes 248 genes that are associated with inherited retinal disorders including but not limited to retinitis pigmentosa, cone-rod dystrophy and Leber congenital amaurosis. These genes were selected based on the available evidence to date to provide a broad panel for retinal disorders. Retinal disease is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.

This assay does not currently include the RPGR and PRPF31 genes. Pathogenic variants in the RPGR gene account for the majority (70-90%) of X-linked retinitis pigmentosa (XLRP), while variants in PRPF31 account for 2-8% of autosomal dominant RP (adRP). Additional testing for the RPGR and PRPF31 genes 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.

Genes tested (248 genes)

ABCA4 ABHD12 ACBD5 ACO2 ADAM9 ADAMTS18 ADGRA3 ADGRV1
ADIPOR1 AGBL5 AHI1 AHR AIPL1 ARHGEF18 ARL2BP ARL13B
ARL3 ARL6 ARMC9 ARSG ASRGL1 ATF6 ATOH7 BBIP1
BBS1 BBS2 BBS4 BBS5 BBS7 BBS9 BBS10 BBS12
BEST1 C1QTNF5 C2orf71 C8orf37 C21orf2 CA4 CABP4 CACNA1F
CACNA2D4 CAPN5 CC2D2A CCT2 CDH3 CDH23 CDHR1 CEP19
CEP41 CEP78 CEP83 CEP164 CEP250 CEP290 CERKL CHM
CIB2 CLCC1 CLN3 CLRN1 CLUAP1 CNGA1 CNGA3 CNGB1
CNGB3 CNNM4 COL2A1 COL9A1 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 GRM6 GUCA1A GUCA1B
GUCY2D HARS HGSNAT HK1 HMX1 IDH3A IDH3B IFT27
IFT43 IFT80 IFT81 IFT140 IFT172 IMPDH1 IMPG1 IMPG2
INPP5E INVS IQCB1 JAG1 KCNJ13 KCNV2 KIAA1549 KIF11
KIZ KLHL7 LCA5 LRAT LRIT3 LRP5 LZTFL1 MAK
MAPKAPK3 MERTK MFRP MKKS MKS1 MTTP MYO7A NDP
NEUROD1 NMNAT1 NPHP1 NPHP3 NPHP4 NR2E3 NRL NYX
OAT OPN1SW OTX2 P3H2 PCDH15 PCYT1A PDE6A PDE6B
PDE6C PDE6G PDE6H PDZD7 PEX1 PEX2 PEX3 PEX5
PEX6 PEX7 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16
PEX19 PEX26 PHYH PITPNM3 PLA2G5 PLK4 PNPLA6 POC1B
POMGNT1 PRCD PRDM13 PROM1 PRPF3 PRPF4 PRPF6 PRPF8
PRPH2 RAB28 RAX2 RBP3 RBP4 RCBTB1 RD3 RDH5
RDH11 RDH12 REEP6 RGR RGS9 RGS9BP RHO RIMS1
RLBP1 ROM1 RP1 RP2 RPE65 RPGRIP1 RPGRIP1L RS1
RTN4IP1 SAG SAMD11 SDCCAG8 SEMA4A SLC24A1 SLC7A14 SNRNP200
SPATA7 SPP2 TEAD1 TIMP3 TMEM126A TMEM216 TMEM237 TOPORS
TPP1(CLN2) TRAF3IP1 TRIM32 TRNT1 TRPM1 TSPAN12 TTC8 TTLL5
TUB TUBGCP4 TUBGCP6 TULP1 UNC119 USH1C USH1G USH2A
VCAN VPS13B WDPCP WDR19 WHRN ZNF408 ZNF423 ZNF513

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

  • neuronal ceroid lipofuscinosis, type 2
  • 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

  • Stickler syndrome, type I
  • Stickler syndrome, type IV

Usher syndrome

  • Usher syndrome, type 1
  • Usher syndrome, type 1C
  • Usher syndrome, type 1D
  • Usher syndrome, type 1G
  • Usher syndrome, type 2A
  • Usher syndrome, type 2C
  • Usher syndrome, type 2D
  • Usher syndrome, type 3A

Wagner syndrome

Zellweger spectrum disorder (ZSD)

Clinical description

Inherited retinal dystrophy (IRD) is a heterogenous group of disorders characterized by loss of photoreceptor function and is a major cause of blindness. IRD can present in various forms with retinitis pigmentosa (RP) being the most common. RP typically presents with night blindness followed by constriction of peripheral visual fields, which leads to tunnel vision and eventually loss of central vision (PMID: 17296890). In cone-rod dystrophies (CRD), patients experience decreased visual acuity, photophobia, nystagmus and progressive loss of color perception (PMID: 1583653). Onset for CRD is typically in early childhood or adolescence (PMID: 17270046). Leber congenital amaurosis (LCA) is a severe retinal dystrophy with early onset and is characterized by early vision loss in infancy, absent or sluggish pupillary response, and severely abnormal or absent ERG response (PMID: 25685757, 12615170).

Retinal dystrophy can also present in individuals with an underlying genetic syndrome and include extraocular features including but not limited to developmental delay or intellectual disability, hearing loss, ataxia, laterality defects and abnormalities of the skeletal, cardiac and genitourinary systems.

Inheritance

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

Prevalence

Inherited retinal dystrophy (IRD) is a large group of clinically and genetically heterogeneous disorders that affect more than 2 million people worldwide (1 in 3000).

Clinical sensitivity

The clinical sensitivity of this test is dependent on the individual’s underlying genetic condition. For many rare conditions not listed in the table, the clinical sensitivity is unknown or not well-established.

 

Percent of disorder attributed to pathogenic variants in specific genes:

 

Gene

% pathogenic variants in gene (clinical condition)

ABCA4

2 - 5% (arRP)

ADGRA3

Rare (arRP)

ADGRV1

6 - 19% (Usher syndrome, type 2)

AGBL5

Rare (arRP)

AHI1

7 - 10% (JSRD)

AIPL1

<5% (LCA)

ARL13B

Rare (JSRD)

ARL2BP

Rare (arRP)

ARL3

Rare (adRP)

ARL6

Rare (adRP, BBS)

ATF6

~1.5% Achromatopsia

BBIP1

Rare (BBS)

BBS1

~23% (BBS), ≤1% (arRP)

BBS10

20% (BBS)

BBS12

5% (BBS)

BBS2

~8% (BBS), ≤1% (arRP)

BBS4

~2% (BBS)

BBS5

Rare (BBS)

BBS7

1.5% (BBS)

BBS9

6% (BBS)

BEST1

Rare (adRP), ≤1% (arRP)

C8orf37

≤1% (arRP)

CA4

Rare (adRP)

CACNA1F

55% XL CSNB

CC2D2A

8-11% (JSRD)

CDH23

7-20% (Usher syndrome, type 1)

CEP290**

15-20% (LCA), 7-10% (JSRD), Rare (BBS), 2-3% (NPHP)

CEP41

Rare (JSRD)

CERKL

3-4% (arRP in Spain)

CHM

95% (Choroideremia in males)

CLN3

>98% (NCL3)

CLRN1

≤1% (arRP)

CNGA1

1-2% (arRP)

CNGA3

5-33% to 80% (Achromatopsia, depending on population)

CNGB1

≤1% (arRP)

CNGB3

16-60% (Achromatopsia, depending on population)

COL2A1

80-90% (Stickler syndrome)

CRB1

10% (LCA), 6-7% (arRP in Spain)

CRX

1% (LCA), 1% (adRP)

CSPP1

2-4% (JSRD)

CYP4V2

≤1% (arRP)

DHDDS

≤1% (arRP)

DHX38

≤1% (arRP)

EMC1

≤1% (arRP)

EYS

10-30% (arRP in Spain, common in China)

FAM161A

≤1% (arRP)

FZD4

20-40% (FEVR)

GNAT2

~2% (Achromatopsia)

GNPTG

>95% (Mucolipidosis III C)

GUCA1B

5% (adRP in Japan)

GUCY2D

10-20% (LCA)

HGSNAT

≤1% (arRP)

HK1

Rare (adRP)

IDH3B

≤1% (arRP)

IFT140

≤1% (arRP)

IFT172

≤1% (arRP), Rare (JSRD)

IFT27

Rare (BBS)

IMPDH1

5% (LCA), 2-3% (adRP)

IMPG2

≤1% (arRP)

INPP5E

2-4% (JSRD)

INVS

1-2% (NPHP)

IQCB1

2-3% (NPHP)

JAG1

94-96% (Alagille syndrome)

KIZ

Rare (arRP)

KLHL7

1-2% (adRP)

LCA5

1-2% (LCA)

LRAT

<1% (LCA), ≤1% (arRP)

LRP5

12-25% (AD FEVR)

MAK

≤1% (arRP)

MERTK

≤1% (arRP)

MKKS

~6% (BBS)

MKS1

~5% (BBS), 2-6% (JSRD)

MYO7A

53-63% (Usher syndrome, type 1)

NDP

95% (Norrie disease)

NEUROD1

Rare (arRP)

NPHP1

1-2% (JSRD), 20-25% (NPHP)

NPHP3

1-2% (NPHP)

NPHP4

3-4% (NPHP)

NYX

45% (XL CSNB)

PCARE (formerly C2orf71)

≤1% (arRP)

PCDH15

7-12% (Usher syndrome, type 1)

PDE6A

2-5% (arRP)

PDE6B

2-5% (arRP)

PDE6C

2.5% (Achromatopsia)

PDE6G

≤1% (arRP)

PDE6H

0.1% (Achromatopsia)

PEX1

60.5% (ZSD)

PEX10

3.4% (ZSD)

PEX11B

0.1% (ZSD)

PEX12

7.6% (ZSD)

PEX13

1.5% (ZSD)

PEX14

0.5% (ZSD)

PEX16

1.1% (ZSD)

PEX19

0.6% (ZSD)

PEX2

3.1% (ZSD)

PEX26

4.2% (ZSD)

PEX3

0.7% (ZSD)

PEX5

2% (ZSD)

PEX6

14.5% (ZSD)

PEX7

10% (Refsum)

PHYH

90% (Refsum)

POC1B

Rare (JSRD)

POMGNT1

Rare (arRP)

PRCD

≤1% (arRP)

PROM1

≤1% (arRP)

PRPF3

1% (adRP)

PRPF6

Rare (adRP)

PRPF8

2-3% (adRP)

PRPH2

5-10% (adRP)

RBP3

≤1% (arRP)

RD3

<1% (LCA)

RDH12

10% (LCA)

RGR

≤1% (arRP)

RHO

≤1% (arRP), 20-30% (adRP)

RLBP1

≤1% (arRP)

ROM1

Rare (adRP)

RP1

≤1% (arRP), 3-4% (adRP)

RP2

10-20% (XLRP)

RPE65

5-10% (LCA), Rare (adRP), 2-5% (arRP)

RPGRIP1

5% (LCA)

RPGRIP1L

1-4% (JSRD)

RS1

100% (XL juvenile retinoschisis)

SAG

2-3% (arRP in Japan)

SDCCAG8

Rare (BBS)

SEMA4A

3-4% (adRP in Pakistan)

SLC7A14

Rare (arRP)

SNRNP200

1-2% (adRP)

SPATA7

3% (LCA), ≤1% (arRP)

SPP2

Rare (adRP)

TMEM216

2-3% (JSRD)

TMEM237

Rare (JSRD)

TPP1

~97% (NCL2)

TRIM32

Rare (BBS)

TRNT1

Rare (arRP)

TSPAN12

3-10% (AD FEVR)

TTC8

≤1% (arRP), ~1% (BBS)

TULP1

<1% (LCA), ≤1% (arRP)

USH1C

1-15% (Usher syndrome, type 1)

USH1G

~4% (Usher syndrome, type 1)

USH2A

10-15% (arRP), 57-79% (Usher syndrome, type 2)

WDPCP

Rare (BBS)

WHRN

<10% (Usher syndrome, type 2)

ZNF408

≤1% (arRP)

ZNF423

Rare (JSRD)

ZNF513

≤1% (arRP)

Clinical Sensitivity Table: arRP (autosomal recessive retinitis pigmentosa), adRP (autosomal dominant retinitis pigmentosa), XLRP (X-linked retinitis pigmentosa, JSRD (Joubert syndrome and related disorders), LCA (Leber congenital amaurosis), Bardet-Biedl syndrome (BBS), XL CSNB (X-linked congenital stationary night blindness), NPHP (nephronophthisis), FEVR (familial exudative vitreoretinopathy), ZSD (Zellweger spectrum disorder), NCL (neuronal ceroid lipofuscinosis)

**CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A>G.

Considerations for testing

This test may be appropriate for individuals with:

A clinical diagnosis of retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), or cone-rod dystrophy (CRD)

A combination of the following features:

  • Night blindness
  • Peripheral or central vision loss, with or without loss of visual acuity
  • Photophobia
  • Deterioration of color vision
  • Retinal vascular attenuation
  • Optic disc pallor
  • Optic nerve atrophy
  • Appearance of bone spicules
  • Abnormal fundus appearance (arteriolar narrowing, dust-like intraretinal pigmentation, and loss of pigment from pigment epithelium)
  • Abnormal ERG

Note: This test is not appropriate for patients with age-related macular degeneration or ocular/oculocutaneous albinism.

Management guidelines

The American Academy of Ophthalmology (AAO) provides recommendations for evaluation and clinical assessment of patients with inherited retinal degenerations (IRDs): https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients

References

  • Bessant D et al. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev. 2001;11(3):307-16.

  • Bravo-Gil N et al. Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Scientific Reports. 2017;7(1).

  • Chacon-Camacho O et al. Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases. 2015:3(2):112.

  • Daiger S et al. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007;125(2):151.

  • Fazzi E et al. Leber's congenital amaurosis: an update. Eur J Paediatr Neurol. 2003:7(1):13-22.

  • Francis P et al. Genetics of inherited retinal disease. J Royal Soc Med. 2006;99(4):189-191.

  • Gregori N et al. Current concepts and emerging gene therapies for inherited retinal diseases. Int Ophthalmol Clin. 2019;59(1):83-110.

  • Hafler B et al. Clinical progress in inherited retinal degenerations. Retina. 2017;37(3):417-423.

  • Hamel C et al. Cone rod dystrophies. Orph J Rare Dis. 2007;2(1).

  • Moore A et al. Cone and cone-rod dystrophies. J Med Genet. 1992;29(5):89-290.

Assay

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).

Based on review of current medical guidelines and peer-reviewed publications, our sequence analysis covers clinically important regions of each gene, including coding exons +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. Any variants that fall outside these regions are not analyzed unless otherwise noted. Any specific limitations in the analysis of these genes are also listed in the table below.

We use our Boosted Exome assay to analyze the genes included in this panel. To ensure high sensitivity and specificity of calls, the exome is sequenced to an average depth of 150x, with all analyzed regions covered to a minimum depth of 20x unless otherwise noted. Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants and insertions and deletions <15bp in length. Sensitivity to detect insertions and deletions larger than 15bp but smaller than a full exon may be marginally reduced. This test permits reliable detection of deletions/duplications spanning four exons or more, although the resolution for detectable CNV lengths varies among genes due to sequence and coverage properties, and can also be influenced by DNA quality. Smaller events may also be detected and will be reported when sufficient resolution exists. Invitae confirms all clinically significant variants that do not meet our stringent NGS quality metrics. Confirmation technologies include any of the following: Sanger sequencing, Pacific Biosciences SMRT sequencing, MLPA, MLPA-seq, Array CGH. 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. The 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 Sequencing Analysis Deletion/Duplication Transcripts Limitations
ABCA4 NM_000350.2
ABHD12* NM_001042472.2 ABHD12: Deletion/duplication and sequencing analysis is not offered for exon 1.
ACBD5 NM_145698.4
ACO2* NM_001098.2 ACO2: Deletion/duplication and sequencing analysis is not offered for exons 11-18.
ADAM9* NM_003816.2 ADAM9: Sequencing analysis is not offered for exon 3.
ADAMTS18 NM_199355.3
ADGRA3* NM_145290.3 ADGRA3: Deletion/duplication and sequencing analysis is not offered for exons 1, 7.
ADGRV1* NM_032119.3 ADGRV1: Sequencing analysis is not offered for exon 4.
ADIPOR1 NM_015999.5
AGBL5 NM_021831.5
AHI1* NM_017651.4 AHI1: Deletion/duplication and sequencing analysis is not offered for exon 28.
AHR* NM_001621.4 AHR: Deletion/duplication analysis is not offered for this gene.
AIPL1 NM_014336.4
ARHGEF18* NM_001130955.1 ARHGEF18: Deletion/duplication analysis is not offered for this gene.
ARL13B NM_182896.2
ARL2BP* NM_012106.3 ARL2BP: Sequencing analysis is not offered for exon 1.
ARL3 NM_004311.3
ARL6 NM_177976.2
ARMC9* NM_001271466.2 ARMC9: Deletion/duplication analysis is not offered for this gene and sequencing analysis is not offered for exons 5-6, 9.
ARSG* NM_014960.4 ARSG: Deletion/duplication analysis is not offered for this gene.
ASRGL1* NM_001083926.1 ASRGL1: Deletion/duplication analysis is not offered for this gene.
ATF6 NM_007348.3
ATOH7 NM_145178.3
BBIP1 NM_001195306.1
BBS1* NM_024649.4 BBS1: Deletion/duplication and sequencing analysis is not offered for exon 1.
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 BBS9: Deletion/duplication analysis is not offered for exon 4 and sequencing analysis is not offered for exons 4, 15.
BEST1 NM_004183.3
C1QTNF5 NM_015645.4
C8ORF37* NM_177965.3 C8ORF37: Sequencing analysis is not offered for exon 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 CCT2: Deletion/duplication analysis is not offered for this gene and sequencing analysis is not offered for exon 8.
CDH23 NM_022124.5
CDH3 NM_001793.5
CDHR1* NM_033100.3 CDHR1: Deletion/duplication and sequencing analysis is not offered for exon 1.
CEP164* NM_014956.4 CEP164: Deletion/duplication and sequencing analysis is not offered for exon 5.
CEP19* NM_032898.4 CEP19: Deletion/duplication analysis is not offered for this gene.
CEP250 NM_007186.5
CEP290* NM_025114.3 CEP290: Analysis includes common non-coding variant, c.2991+1655A>G
CEP41 NM_018718.2
CEP78* NM_001098802.1 CEP78: Deletion/duplication analysis is not offered for this gene.
CEP83 NM_016122.2
CERKL NM_001030311.2
CFAP410* NM_004928.2 CFAP410: Sequencing analysis is not offered for exon 1.
CHM NM_000390.2
CIB2 NM_006383.3
CLCC1* NM_001048210.2 CLCC1: Deletion/duplication analysis is not offered for this gene.
CLN3* NM_001042432.1 CLN3: Sequencing analysis is not offered for exon 5.
CLRN1 NM_174878.2
CLUAP1 NM_015041.2
CNGA1 NM_000087.3
CNGA3 NM_001298.2
CNGB1* NM_001297.4 CNGB1: Deletion/duplication and sequencing analysis is not offered for exon 14.
CNGB3 NM_019098.4
CNNM4 NM_020184.3
COL2A1 NM_001844.4
COL9A1 NM_001851.4
CRB1 NM_201253.2
CRX NM_000554.4
CSPP1* NM_024790.6 CSPP1: Sequencing analysis is not offered for exon 19.
CTNNA1 NM_001903.3
CWC27* NM_005869.3 CWC27: Deletion/duplication analysis is not offered for this gene and sequencing analysis is not offered for exon 9.
CYP4V2* NM_207352.3 CYP4V2: Deletion/duplication and sequencing analysis is not offered for exon 9.
DHDDS NM_024887.3
DHX38 NM_014003.3
DRAM2* NM_178454.4 DRAM2: Sequencing analysis is not offered for exon 4.
DTHD1 NM_001136536.4
EFEMP1 NM_001039348.2
ELOVL4 NM_022726.3
EMC1* NM_015047.2 EMC1: Sequencing analysis is not offered for exon 20.
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
GRM6 NM_000843.3
GUCA1A NM_000409.4
GUCA1B NM_002098.5
GUCY2D NM_000180.3
HARS NM_002109.5
HGSNAT* NM_152419.2 HGSNAT: Deletion/duplication and sequencing analysis is not offered for exon 1.
HK1 NM_000188.2
HMX1 NM_018942.2
IDH3A* NM_005530.2 IDH3A: Deletion/duplication analysis is not offered for this gene.
IDH3B NM_006899.4
IFT140* NM_014714.3 IFT140: Deletion/duplication and sequencing analysis is not offered for exon 5.
IFT172 NM_015662.2
IFT27 NM_006860.4
IFT43 NM_052873.2
IFT80* NM_020800.2 IFT80: Deletion/duplication and sequencing analysis is not offered for exon 2.
IFT81 NM_014055.3
IMPDH1 NM_000883.3
IMPG1* NM_001563.3 IMPG1: Deletion/duplication and sequencing analysis is not offered for exon 8.
IMPG2 NM_016247.3
INPP5E NM_019892.4
INVS NM_014425.3
IQCB1* NM_001023570.2 IQCB1: Deletion/duplication and sequencing analysis is not offered for exon 8.
JAG1 NM_000214.2
KCNJ13 NM_002242.4
KCNV2 NM_133497.3
KIAA1549* NM_001164665.1 KIAA1549: Deletion/duplication and sequencing analysis is not offered for exon 1.
KIF11 NM_004523.3
KIZ NM_018474.4
KLHL7 NM_001031710.2
LCA5* NM_181714.3 LCA5: Sequencing analysis is not offered for exon 6.
LRAT NM_004744.4
LRIT3 NM_198506.4
LRP5* NM_002335.3 LRP5: Deletion/duplication and sequencing analysis is not offered for exon 1.
LZTFL1 NM_020347.3
MAK NM_001242957.2
MAPKAPK3 NM_001243926.1
MERTK NM_006343.2
MFRP NM_031433.3
MKKS NM_018848.3
MKS1 NM_017777.3
MTTP NM_000253.3
MYO7A NM_000260.3
NDP NM_000266.3
NEUROD1 NM_002500.4
NMNAT1 NM_022787.3
NPHP1 NM_000272.3
NPHP3 NM_153240.4
NPHP4 NM_015102.4
NR2E3 NM_014249.3
NRL NM_006177.3
NYX NM_022567.2
OAT* NM_000274.3 OAT: Deletion/duplication and sequencing analysis is not offered for exons 2, 9-10.
OPN1SW NM_001708.2
OTX2 NM_172337.2
P3H2* NM_018192.3 P3H2: Deletion/duplication analysis is not offered for this gene.
PCARE NM_001029883.2
PCDH15 NM_033056.3
PCYT1A NM_005017.3
PDE6A NM_000440.2
PDE6B NM_000283.3
PDE6C NM_006204.3
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 PEX7: Deletion/duplication and sequencing analysis is not offered for exon 8.
PHYH NM_006214.3
PITPNM3* NM_031220.3 PITPNM3: Deletion/duplication and sequencing analysis is not offered for exon 1.
PLA2G5 NM_000929.2
PLK4* NM_014264.4 PLK4: Deletion/duplication analysis is not offered for this gene.
PNPLA6 NM_006702.4
POC1B* NM_172240.2 POC1B: Sequencing analysis is not offered for exons 10, 12.
POMGNT1 NM_017739.3
PRCD NM_001077620.2
PRDM13 NM_021620.3
PROM1 NM_006017.2
PRPF3 NM_004698.2
PRPF4 NM_004697.4
PRPF6 NM_012469.3
PRPF8 NM_006445.3
PRPH2 NM_000322.4
RAB28* NM_004249.3 RAB28: Sequencing analysis is not offered for exon 5.
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 REEP6: Deletion/duplication analysis is not offered for this gene.
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
RP2 NM_006915.2
RPE65 NM_000329.2
RPGRIP1 NM_020366.3
RPGRIP1L* NM_015272.2 RPGRIP1L: Deletion/duplication and sequencing analysis is not offered for exon 23.
RS1 NM_000330.3
RTN4IP1 NM_032730.4
SAG* NM_000541.4 SAG: Sequencing analysis is not offered for exon 15.
SAMD11* NM_152486.2 SAMD11: Deletion/duplication analysis is not offered for this gene and sequencing analysis is not offered for exon 7.
SDCCAG8 NM_006642.3
SEMA4A NM_022367.3
SLC24A1* NM_004727.2 SLC24A1: Deletion/duplication and sequencing analysis is not offered for exon 7.
SLC7A14 NM_020949.2
SNRNP200 NM_014014.4
SPATA7 NM_018418.4
SPP2 NM_006944.2
TEAD1 NM_021961.5
TIMP3 NM_000362.4
TMEM126A NM_032273.3
TMEM216 NM_001173990.2
TMEM237 NM_001044385.2
TOPORS NM_005802.4
TPP1 NM_000391.3
TRAF3IP1* NM_015650.3 TRAF3IP1: Deletion/duplication analysis is not offered for this gene.
TRIM32 NM_012210.3
TRNT1 NM_182916.2
TRPM1 NM_002420.5
TSPAN12 NM_012338.3
TTC8 NM_198309.3
TTLL5 NM_015072.4
TUB NM_003320.4
TUBGCP4* NM_001286414.2 TUBGCP4: Deletion/duplication analysis is not offered for this gene.
TUBGCP6 NM_020461.3
TULP1* NM_003322.4 TULP1: Sequencing analysis is not offered for exon 3.
UNC119 NM_005148.3
USH1C NM_005709.3
USH1G NM_173477.4
USH2A* NM_206933.2 USH2A: Deletion/duplication and sequencing analysis is not offered for exon 60.
VCAN NM_004385.4
VPS13B* NM_017890.4 VPS13B: Deletion/duplication and sequencing analysis is not offered for exon 52.
WDPCP NM_015910.5
WDR19 NM_025132.3
WHRN NM_015404.3
ZNF408 NM_024741.2
ZNF423 NM_015069.3
ZNF513 NM_144631.5