Ophthalmology
Genetic testing for hereditary ophthalmologic conditions including inherited retinal disorders can help guide potential treatments options, identify clinical trial opportunities and identify at-risk relatives.
Categories
Invitae Congenital Stationary Night Blindness Panel
Invitae Congenital Stationary Night Blindness Panel
Test code: 04301 • 10–21 days turnaround time
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 Corneal Dystrophies Panel
Invitae Corneal Dystrophies Panel
Test code: 04302 • 10–21 days turnaround time
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 Achromatopsia Panel
Invitae Achromatopsia Panel
Test code: 04305 • 10–21 days turnaround time
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 Macular Dystrophy Panel
Invitae Macular Dystrophy Panel
Test code: 434345 • 10–21 days turnaround time
The Invitae Macular Dystrophy Panel analyzes genes that are associated with disorders causing macular dystrophy and conditions with similar clinical presentations. These are genetically heterogeneous disorders characterized primarily by central vision loss and atrophy of the macula and underlying retinal pigment epithelium.
Invitae Oculocutaneous Albinism Panel
Invitae Oculocutaneous Albinism Panel
Test code: 434348 • 10–21 days turnaround time
The Invitae Oculocutaneous Albinism Panel analyzes genes that are associated with syndromic and nonsyndromic forms of oculocutaneous albinism which is characterized by hypopigmentation of the hair, skin, and eyes. These genes were selected based on the available evidence to date to provide a broad analysis for inherited oculocutaneous albinism.
Invitae Septo-optic Dysplasia Panel
Invitae Septo-optic Dysplasia Panel
Test code: 434349 • 10–21 days turnaround time
The Invitae Septo-optic Dysplasia Panel analyzes genes that are associated with disorders causing septo-optic dysplasia and conditions with similar clinical presentation. These are genetically heterogeneous disorders characterized primarily by hypoplasia of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia. These genes were selected based on the available evidence to date to provide a broad analysis for inherited septo-optic dysplasia.
Invitae Alport Syndrome Panel
Invitae Alport Syndrome Panel
Test code: 55005 • 10–21 days turnaround time
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 Stickler Syndrome Panel
Invitae Stickler Syndrome Panel
Test code: 55013 • 10–21 days turnaround time
Genetic testing for genes associated with Stickler syndrome is generally characterized by skeletal, ocular, facial, and audiological abnormalities. These clinical features overlap with other genetic conditions such as Donnai-Barrow syndrome and Wagner syndrome, which are also included in this panel. Stickler syndrome is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.
Invitae Glaucoma Panel
Invitae Glaucoma Panel
Test code: 55015 • 10–21 days turnaround time
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 Inherited Retinal Disorders Panel
Invitae Inherited Retinal Disorders Panel
Test code: 72100 • 10–21 days turnaround time
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.
Invitae Bardet-Biedl Syndrome Panel
Invitae Bardet-Biedl Syndrome Panel
Test code: 04112 • 10–21 days turnaround time
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 Cataracts Panel
Invitae Cataracts Panel
Test code: 05132 • 10–21 days turnaround time
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.
Primary panel (103 genes)
Select add-ons
Add-ons can be included at no additional charge.
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel
Test code: 05142 • 10–21 days turnaround time
The Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel analyzes genes that are associated with MAC and anterior segment dysgenesis, which are characterized by changes in the size of the eye and/or abnormalities of the front part of the eye (anterior segment), including the iris. These genes were selected based on the available evidence to date to provide a broad analysis for inherited MAC and anterior segment dysgenesis.
Invitae Oculo-Facio-Cardio-Dental Syndrome Test
Invitae Oculo-Facio-Cardio-Dental Syndrome Test
Test code: 04213 • 10–21 days turnaround time
Genetic testing for BCOR, the primary gene associated with oculo-facio-cardio-dental (OFCD) syndrome and Lenz microphthalmia (LMS).