Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae's pricing is per "(external) clinical area(clinical area)":/clinical-areas/ for initial order and "(external) re-requisition(Re-requisition)":/re-requisition/. 

All the tests on this page fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

Ophthalmology

RGS9

CNGA3

PDE6H

ATF6

RGS9BP

PDE6C

CNGB3

GNAT2

The Invitae Achromatopsia Panel analyzes genes that are associated with achromatopsia, which is characterized by low visual acuity, photophobia, nystagmus, and a partial or total absence of color vision. These genes were selected based on the available evidence to date to provide a broad analysis for inherited achromatopsia.

Invitae Achromatopsia Panel

CD151

COL4A4

COL4A6

COL4A3

MYH9

COL4A5

Genetic testing for genes associated with Alport syndrome which is generally characterized by renal disease and deafness with possible ocular findings including anterior lenticonus and cataract.

Invitae Alport Syndrome Panel

BBS12

LZTFL1

KIF7

BBS9

BBIP1

BBS4

C8orf37

CEP164

BBS10

FBN3

BBS7

BBS1

SDCCAG8

CEP290

WDPCP

BBS2

ARL6

IFT172

SCLT1

TRIM32

CEP19

IFT27

TRAPPC3

IFT74

MKS1

TTC8

BBS5

MKKS

The Invitae Bardet-Biedl Syndrome  Panel analyzes genes that are associated with Bardet-Biedl Syndrome (BBS), which is characterized by truncal obesity, cognitive impairment rod-cone dystrophy, and renal abnormalities. These genes were selected based on the available evidence to date to provide a broad analysis for BBS.

Invitae Bardet-Biedl Syndrome Panel

LEMD2

FYCO1

SIX6

PEX2

COL4A2

CRYBA4

PEX16

PAX6

PEX11B

SC5D

FOXE3

BEST1

RDH11

LONP1

ERCC6

XYLT2

OCRL

TBC1D20

CRYAB

RECQL4

CLN3

TFAP2A

COL11A1

ABCA3

PEX7

P3H2

CRYBA1

GCNT2

MIR184

EPG5

CRYGS

EPHA2

COL18A1

WDR87

CRYBB2

SIL1

JAM3

ABCB6

OPA3

GALT

RAB3GAP1

LIM2

COL2A1

PITX2

FOXC1

RNLS

ALDH18A1

ERCC5

SIPA1L3

ADAMTS18

ADAMTSL4

BCOR

GFER

FAM126A

GJA8

PEX10

HMX1

PXDN

PITX3

TMEM70

RAB3GAP2

GALK1

HSF4

CYP51A1

TDRD7

CYP27A1

CRYAA

CRYBB1

SLC33A1

BFSP2

ERCC8

CHMP4B

CRYBB3

ABHD12

ERCC2

GJA1

UNC45B

EYA1

FZD4

CRYGD

CTDP1

RGS6

VSX2

CRYGC

GJA3

RRAGA

CRYGB

BFSP1

SLC16A12

The Invitae Cataracts Panel analyzes genes that are associated with cataracts, a condition characterized by lens opacity. These genes were selected based on the available evidence to date to provide a broad analysis for inherited cataracts.

Invitae Cataracts Panel

Add-on Preliminary-evidence Genes for Congenital Cataracts

TRPM1

CABP4

GNB3

GPR179

GNAT1

SLC24A1

CACNA1F

CACNA2D4

GUCY2D

PDE6B

GRM6

RLBP1

CYP4V2

RBP4

LRIT3

RDH5

FRMD7

RPE65

The Invitae Congenital Stationary Night Blindness Panel analyzes genes that are associated with congenital stationary night blindness (CSNB), which is characterized by impaired night vision with or without rod system impairment, delayed adaptation to dark environments, congenital or infantile onset nystagmus, photophobia, and poor visual acuity. These genes were selected based on the available evidence to date to provide a broad analysis for inherited congenital stationary night blindness.

Invitae Congenital Stationary Night Blindness Panel

OVOL2

TGFBI

PIKFYVE

KERA

SLC4A11

ZNF143

PRDM5

ZNF469

VSX1

COL8A2

CHRDL1

GRHL2

CHST6

LOXHD1

NLRP1

KRT3

TACSTD2

ZEB1

COL5A1

KRT12

LCAT

COL17A1

UBIAD1

The Invitae Corneal Dystrophies Panel analyzes genes that are associated with corneal dystrophies (CDs), which are characterized by cloudy or blurred vision, light sensitivity, dry or itchy eyes, sensation of something in the eye, and/or mild to severe pain in the eye. These genes were selected based on the available evidence to date to provide a broad analysis for inherited corneal dystrophies.

Invitae Corneal Dystrophies Panel

EXO5

WDR36

PRPF8

PRSS56

MFRP

SH3PXD2B

LMX1B

PIK3R1

ATOH7

ASB10

SLC4A4

OPTN

CYP1B1

COL4A1

Genetic testing for genes associated with glaucoma, a condition that typically affects both eyes, causes reduced visual acuity and restricted visual fields, and leads to blindness, if untreated.  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.

Invitae Glaucoma Panel