Genetic Testing Information:

250 genes currently known to be involved in inherited retinal degenerations and related disorders are analyzed by a combination of SureSelect targeted enrichment followed by Next Generation sequencing using an Illumina MiSeq instrument.  The coding regions and splice regions of these genes are examined.  Sanger sequencing is performed to confirm all clinically significant variants and when necessary to fill in regions of insufficient coverage.  

This testing will not detect large genomic structural rearrangements such as deletions, duplications, inversions and insertions.  Variants in non-coding regions which are outside of the splicing regions and not specifically targeted will not be analyzed.  Additionally, genetic variants present in genes not known to be associated with retinal degeneration may not be detected by this testing method.  Research-based testing is available for detecting these types of genetic alterations.

Testing Panels

  • Genetic Eye Disease Panel for Retinal Genes (GEDi-R):

250 genes (see gene list below) currently known to be involved in inherited retinal degenerations and related disorders are analyzed by a combination of SureSelect targeted enrichment followed by Next Generation sequencing using an Illumina MiSeq instrument.  This test also includes sequencing of the mitochondrial genome. The following intronic variants are analyzed:  CEP290 c.2991+1655A>G; PRPF31 c.1374+654C>G; USH2A c.7595-2144A>G; OFD1 c.935+706A>G and 5 ABCA4 (c.5196+1137G>A, c.5196+1216C>A, c.5196+1056A>G, c.4539+2001G>A, c.4539+2028C>T).

  • Genetic Eye Disease Panel for Optic Nerve Disease and Early onset glaucoma (GEDi-O)

17 genes (ACO2, AUH, C12orf65, CISD2, CYP1B1, FOXC1, LTBP2, MTPAP, MYOC, NDUFS1, NR2F1, OPA1, OPTN, PAX6, PITX2, POLG, SPG7 ) currently known to be involved in optic nerve disease, early onset glaucoma and related disorders are analyzed by a combination of SureSelect targeted enrichment followed by Next Generation sequencing using an Illumina MiSeq instrument.  Panel also includes sequencing of the mitochondrial genome.

  • Genetic Eye Disease Panel for Strabismus (Gedi-S)

8 genes (ROBO3, PHOX2A, HOXA1, SALL4, CHN1, TUBB3, KIF21A, HOXB1) currently known to involved in congenital cranial dysinnervation disorders and disorders of axon guidance analyzed by a combination of SureSelect targeted enrichment followed by Next Generation sequencing using an Illumina MiSeq instrument.

  • Confirmation of research finding or familial variant testing

Sanger sequencing is performed to confirm a genetic variant identified by research testing or confirmation of a familial variant. For this testing, please provide the gene name and variant information (genomic position, cDNA and protein information)

Gene List:

ABCA4

BBS4

CEP290

CRX

GNB1

IFT88

LRP5

NUB1

PDZD7

PRPF4

RP2

TMEM231

USH2A

ABCC6

BBS5

CEP41

CSPP1

GNPTG

IKBKG

LZTFL1

NYX

PEX1

PRPF6

RP9

TMEM237

VCAN

ABHD12

BBS7

CEP83

CSPP1

GPR125

IMPDH1

MAK

OAT

PEX10

PRPF8

RPE65

TMEM67

VPS13B

ACBD5

BBS9

CERKL

CYP4V2

GPR143

IMPG1

MERTK

OCA2

PEX14

PRPH2

RPGR

TOPORS

WDPCP

ADAM9

BEST1

CHM

DFNB31

GPR179

IMPG2

MFN2

OFD1

PEX16

RAB28

RPGRIP1

TPP1

WDR19

ADAMTS18

C1QTNF5

CIB2

DHDDS

GPR98

INPP5E

MFRP

OPA1

PEX19

RAX2

RPGRIP1L

TREX1

WDR34

AHI1

C21orf2

CLN3

DHX38

GRK1

INVS

MFSD8

OPA3

PEX2

RBP3

RS1

TRIM32

WDR35

AIPL1

C2ORF71

CLN5

DTHD1

GRM6

IQCB1

MKKS

OPN1LW

PEX5

RBP4

SAG

TRPM1

WFS1

ALMS1

C5orf42

CLN6

EFEMP1

GRN

ITM2B

MKS1

OPN1MW

PEX6

RD3

SDCCAG8

TSPAN12

ZNF423

ARL13B

C8orf37

CLN8

ELOVL4

GUCA1A

JAG1

MTTP

OPN1SW

PEX7

RDH12

SEMA4A

TTC21B

ZNF513

ARL2BP

CA4

CLRN1

EMC1

GUCA1B

KCNJ13

MVK

OTX2

PGK1

RDH5

SLC24A1

TTC8

 

ARL2BP

CABP4

CNGA1

ERCC6

GUCY2D

KCNV2

MYO7A

PANK2

PHYH

RGR

SLC45A2

TTLL5

 

ARL6

CACNA1F

CNGA3

EYS

HARS

KCTD7

NDP

PAX2

PITPNM3

RGS9

SLC4A5

TTPA

 

ATXN7

CACNA2D4

CNGB1

FAM161A

IDH3B

KIAA1549

NEK2

PCDH15

PLA2G5

RGS9BP

SLC7A14

TUB

 

BBIP1

CAPN5

CNGB3

FLVCR1

IFT122

KIF11

NMNAT1

PCYT1A

POC1B

RHO

SNRNP200

TULP1

 

BBIP1

CC2D2A

CNNM4

FSCN2

IFT140

KIZ

NPHP1

PDE6A

PPT1

RIMS1

SPATA7

TYR

 

BBS1

CDH23

COL11A1

FZD4

IFT172

KLHL7

NPHP3

PDE6B

PRCD

RLBP1

TEAD1

TYRP1

 

BBS10

CDH3

COL2A1

GDF6

IFT27

LCA5

NPHP4

PDE6C

PROM1

ROM1

TIMM8A

UNC119

 

BBS12

CDHR1

COL9A1

GNAT1

IFT43

LRAT

NR2E3

PDE6G

PRPF3

RP1

TIMP3

USH1C

 

BBS2

CEP164

CRB1

GNAT2

IFT80

LRIT3

NRL

PDE6H

PRPF31

RP1L1

TMEM126A

USH1G

 

Methodology and Technical Information:

For each panel, the coding regions and splice regions of genes tested are examined.  Sanger sequencing is performed to confirm all clinically significant variants and when necessary to fill in regions of insufficient coverage.  

This testing will not detect large genomic structural rearrangements such as deletions, duplications, inversions and insertions.  Variants in non-coding regions which are outside of the splicing regions and not specifically targeted will not be analyzed.  Additionally, genetic variants present in genes not known to be associated with retinal degeneration may not be detected by this testing method.  Research-based testing is available for detecting these types of genetic alterations.

Pricing:

Test

Price

CPT Code

GEDi-R

$3000.00

81479

GEDi-O

$2000.00

81479

GEDi-S

$1250.00

81479

 

$500.00

81403

CLIA Certification Number: 22D1037777  

Specimen Requirements:

Blood Specimens: Blood is the preferred specimen type of testing.

  • Volume for children: 2-5 mL whole sterile blood collected in EDTA (lavender top) tube.
  • Volume for adults: 3-10 mL whole sterile blood collected in EDTA (lavender top) tube
  • Labeling: Tubes should be labeled with the patient’s name, date of birth and/or ID.
  • Shipping: Specimens should be shipped at room temperature and by overnight delivery with arrival Monday-Friday.  Samples should be received 48 hours of collection.  NO WEEKEND DELIVERY. Sample can be refrigerated before shipping. DO NOT FREEZE BLOOD. In hot weather, a cool pack can be used.  Shipping costs are the responsibility of the sender.

Samples should be shipped to the following:

                       Ocular Genomics Diagnostic Laboratory

                        Massachusetts Eye and Ear Infirmary

                        243 Charles Street, Room 566A

                        Boston, MA 02114

Ordering Testing:

Genetic testing can only be ordered by a medical professional

Please complete the Test Requisition

This completed form MUST accompany all specimens. The Test Requisition is the following:

  1. Patient, testing and sample information (Pages 1-2)
  2. Consent form (page 3)
  3. Billing information (page 4)

A specimen cannot be processed without a completed requisition form.

Turnaround time is 90 Days

Pricing updated 03.01.2015

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