Test Descriptions Found:

896

Sensory Disorders

CMA

3-Methylglutaconic Aciduria

Test Available Sequencing Del/Dup Other
3-Methylglutaconic Aciduria Type I via the AUH Gene$710.00$690.00
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene$490.00$690.00
Barth Syndrome via the TAZ Gene$680.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Dilated Cardiomyopathy Sequencing Panel$2040.00$1290.00
Left Ventricular Noncompaction (LVNC) Sequencing Panel$1540.00$840.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Achromatopsia

Test Available Sequencing Del/Dup Other
Achromatopsia (ACHM) Sequencing Panel$1440.00$840.00
Achromatopsia (ACHM) via the CNGA3 Gene$650.00$690.00
Achromatopsia (ACHM) via the GNAT2 Gene$650.00$690.00
Achromatopsia via the CNGB3 Gene$970.00$690.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00

Adrenoleukodystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
X-Linked Adrenoleukodystrophy via the ABCD1 Gene$780.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Aland Island Eye Disease

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene$990.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00

Albinism, Oculocutaneous

Test Available Sequencing Del/Dup Other
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 7 (OCAVII) via the C10orf11 Gene$610.00

Alport Syndrome

Test Available Sequencing Del/Dup Other
Alport Syndrome (AS) Sequencing Panel$1540.00$840.00
Alport Syndrome (AS) via the COL4A3 Gene$990.00$690.00
Alport Syndrome (AS) via the COL4A4 Gene$990.00$690.00
Alport Syndrome (AS) via the COL4A5 Gene$1090.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00

Alstrom Syndrome

Test Available Sequencing Del/Dup Other
Alstrom Syndrome via the ALMS1 Gene$1850.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00

Aniridia, Cerebellar Ataxia, And Mental Retardation

Test Available Sequencing Del/Dup Other
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00

Anterior Segment Dysgenesis

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Anterior Segment Dysgenesis via FOXE3 Gene$580.00$690.00
Cataract Type 11 via the PITX3 Gene$580.00
Congenital Cataracts Sequencing Panel$1840.00$840.00

Aphakia

Test Available Sequencing Del/Dup Other
Anterior Segment Dysgenesis via FOXE3 Gene$580.00$690.00
Congenital Cataracts Sequencing Panel$1840.00$840.00

Ataxia-Oculomotor Apraxia

Test Available Sequencing Del/Dup Other
Ataxia with Oculomotor Apraxia Sequencing Panel$1440.00$770.00
Coenzyme Q10 Ubiquinone Deficiency Sequencing Panel$1540.00$1290.00
Early-Onset Ataxia with Oculomotor Apraxia Type 1 via the APTX Gene$750.00$690.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00

Avellino Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
TGFBI-Associated Corneal Dystrophies via the TGFBI Gene$1020.00$690.00

Axenfeld-Rieger Syndrome

Test Available Sequencing Del/Dup Other
Aniridia via The PAX6 Gene$910.00$690.00
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Congenital Cataracts Sequencing Panel$1840.00$840.00
FOXC1-Related Disorders via the FOXC1 Gene$870.00$690.00
Glaucoma Sequencing Panel$1940.00$840.00
PITX2- Related Disorders via PITX2 Gene$580.00$690.00

Ayme-Gripp Syndrome

Test Available Sequencing Del/Dup Other
Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene$650.00

Bestrophinopathy

Test Available Sequencing Del/Dup Other
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene$840.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Bietti Crystalline Corneoretinal Dystrophy

Test Available Sequencing Del/Dup Other
Bietti Crystalline Corneoretinal Dystrophy via the CYP4V2 Gene$870.00$690.00

Blau Syndrome

Test Available Sequencing Del/Dup Other
Pediatric Granulomatous Arthritis via the NOD2 Gene$990.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome (BPES)

Test Available Sequencing Del/Dup Other
Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) via the FOXL2 Gene$610.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Male Infertility Sequencing Panel$2190.00$1670.00

Bosch-Boonstra-Schaaf optic atrophy syndrome

Test Available Sequencing Del/Dup Other
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via the NR2F1 Gene$580.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Bothnia Retinal Dystrophy

Test Available Sequencing Del/Dup Other
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
RLBP1-Related Disorders via the RLBP1 Gene$650.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Brain Small Vessel Disease

Test Available Sequencing Del/Dup Other
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00

Branchiooculofacial Syndrome

Test Available Sequencing Del/Dup Other
Branchio-Oculo-Facial Syndrome (BOFS) via the TFAP2A gene$680.00$690.00

Branchiootic syndrome

Test Available Sequencing Del/Dup Other
Branchiootorenal Syndrome Sequencing Panel$1490.00$770.00
Branchiootorenal syndrome via the EYA1 Gene$870.00$690.00
Branchiootorenal syndrome via the SIX1 Gene$440.00$690.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00

Brittle Cornea Syndrome

Test Available Sequencing Del/Dup Other
Brittle Cornea Syndrome Sequencing Panel$1680.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00

Camptodactyly, Tall Stature, And Hearing Loss Syndrome

Test Available Sequencing Del/Dup Other
Craniosynostosis and Related Disorders Sequencing Panel$1540.00$770.00
Facial Dysostosis Related Disorders Sequencing Panel$1690.00$840.00
FGFR3-Related Disorders via the FGFR3 Gene$970.00$690.00
Short Rib Skeletal Dysplasia Sequencing Panel$1740.00$840.00

Cataract

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Cataract 10, Multiple Types (CTRCT10) via the CRYBA1 Gene$990.00
Cataract 17, Multiple Types (CTRCT17) via the CRYBB1 Gene$580.00
Cataract 22, Multiple Types (CTRCT22) via the CRYBB3 Gene$610.00
Cataract 23 (CTRCT23) via the CRYBA4 Gene$580.00
Cataract 3, Multiple Types (CTRCT3) via the CRYBB2 Gene$610.00
Cataract 9, Multiple Types (CTRCT9) via the CRYAA Gene$490.00
Cataract Type 11 via the PITX3 Gene$580.00
Cataract Type 2 (CTRCT2) via the CRYGC Gene$490.00
Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene$650.00
Congenital Cataracts Sequencing Panel$1840.00$840.00
Congenital Cataracts via the BFSP1 Gene$780.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
Sengers Syndrome via the AGK Gene$990.00$690.00

Cataracts

Test Available Sequencing Del/Dup Other
Cataract Type 39 via the CRYGB Gene$990.00
Congenital Cataracts Sequencing Panel$1840.00$840.00

Cerebroretinal Microangiopathy

Test Available Sequencing Del/Dup Other
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene$1220.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel$1680.00$840.00

Cerebrotendinous Xanthomatosis

Test Available Sequencing Del/Dup Other
CerebroTendinous Xanthomatosis (CTX) via the CYP27A1 Gene$750.00$690.00

Chediak-Higashi Syndrome

Test Available Sequencing Del/Dup Other
Chediak-Higashi Syndrome (CHS) via the LYST Gene$990.00$690.00
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00

Choroidal Dystrophy

Test Available Sequencing Del/Dup Other
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00

Choroideremia

Test Available Sequencing Del/Dup Other
Choroideremia via the CHM Gene$990.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Congenital Stationary Night Blindness Sequencing Panel$1590.00$1290.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00

Chudley-McCullough syndrome

Test Available Sequencing Del/Dup Other
Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene$990.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00

Cohen Syndrome

Test Available Sequencing Del/Dup Other
Cohen Syndrome via the VPS13B (COH1) Gene$990.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00

Coloboma

Test Available Sequencing Del/Dup Other
Aniridia via The PAX6 Gene$910.00$690.00
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Congenital Cataracts Sequencing Panel$1840.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00

Combined Oxidative Phosphorylation Deficiency

Test Available Sequencing Del/Dup Other
AIFM1-Related Disorders via the AIFM1 Gene$990.00$690.00
C12orf65-Associated Optic Atrophy via the C12orf65 Gene$990.00$690.00
Combined Oxidative Phosphorylation Deficiency 14 via the FARS2 Gene$650.00$690.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1690.00$1670.00
Mitochondrial Combined Oxidative Phosphorylation Deficiency via the MTFMT Gene$810.00
Mitochondrial Complex V Deficiency via the ATP5A1 Gene$940.00
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via the MRPL3 Gene$810.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
TSFM-Related Combined Oxidative Phosphorylation Deficiency via the TSFM Gene$780.00

Cone Dystrophy

Test Available Sequencing Del/Dup Other
Achromatopsia (ACHM) Sequencing Panel$1440.00$840.00
Achromatopsia via the PDE6C Gene$990.00$690.00
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via the GUCA1A Gene$490.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00

Cone-Rod Dystrophy

Test Available Sequencing Del/Dup Other
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene$990.00$690.00
Autosomal Dominant Cone Dystrophy 3 (COD3) and Cone-Rod Dystrophy 14 (CRD14) via the GUCA1A Gene$490.00$690.00
Autosomal Dominant Cone-Rod Dystrophy via the RIMS1 Gene$990.00$690.00
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel$1840.00$1290.00
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene$990.00$690.00
Cone-Rod Dystrophy (CRD11) via the Rax2 (Qrx) Gene$540.00$690.00
Cone-Rod Dystrophy and Retinitis Pigmentosa via the C8orf37 Gene$990.00$690.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Cone-Rod Dystrophy via the ADAM9 Gene$990.00$690.00
Cone-Rod Dystrophy via the CDHR1 Gene$990.00$690.00
Cone-Rod Dystrophy via the CNNM4 Gene$990.00$690.00
Cone-Rod Dystrophy via the PITPNM3 Gene$990.00$690.00
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via the GUCY2D Gene$970.00$690.00
Leber Congenital Amaurosis via the CRX Gene$490.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
Retinitis Pigmentosa 35 (RP35) and Cone-Rod Dystrophy 10 (CORD10) via the SEMA4A Gene$940.00$690.00
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene$990.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00
Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene$1290.00$690.00
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) Sequencing Panel$1740.00$770.00
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene$1090.00$690.00

Congenital Aniridia

Test Available Sequencing Del/Dup Other
Aniridia via The PAX6 Gene$910.00$690.00
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Congenital Cataracts Sequencing Panel$1840.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00

Congenital Aphakia

Test Available Sequencing Del/Dup Other
Anterior Segment Dysgenesis via FOXE3 Gene$580.00$690.00
Congenital Cataracts Sequencing Panel$1840.00$840.00

Congenital Cataract, X-Linked

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00
X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene$990.00$690.00

Congenital Cataracts, Facial Dysmorphism, And Neuropathy

Test Available Sequencing Del/Dup Other
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel$1690.00$1290.00
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene$990.00$690.00
Congenital Cataracts Sequencing Panel$1840.00$840.00

Congenital Cataracts, Hearing Loss, and Neurodegeneration

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00

Congenital Stationary Night Blindness

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene$990.00$690.00
Congenital Stationary Night Blindness Sequencing Panel$1590.00$1290.00
PDE6B Related Disorders via the PDE6B Gene$990.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
RHO-Related Disorders via the RHO Gene$580.00$690.00
X-Linked Complete Congenital Stationary Night Blindness (CSNB1) via the NYX Gene$650.00$690.00

Congenital Stromal Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00

Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
Meesmann Corneal Dystrophy (MCD) via the KRT12 Gene$780.00

Corneal Dystrophy And Perceptive Deafness

Test Available Sequencing Del/Dup Other
Congenital Hereditary Endothelial Dystrophy Type 2 (CHED2) and Harboyan Syndrome via the SLC4A11 Gene$1060.00$690.00

Corneal Endothelial Dystrophy

Test Available Sequencing Del/Dup Other
Congenital Hereditary Endothelial Dystrophy Type 2 (CHED2) and Harboyan Syndrome via the SLC4A11 Gene$1060.00$690.00
Corneal Dystrophies Sequencing Panel$1840.00$840.00

Corneal Epithelial Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
TGFBI-Associated Corneal Dystrophies via the TGFBI Gene$1020.00$690.00

Corneal Opacification

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00

Cortical Dysplasia

Test Available Sequencing Del/Dup Other
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel$1890.00$840.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via the TUBB3 Gene$540.00

Deafness

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Deafness, Autosomal Dominant 10 (DFNA10) via the EYA4 Gene$990.00$690.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$990.00$690.00
Deafness, Autosomal Dominant 15 (DFNA15) via the POU4F3 Gene$540.00$690.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$990.00$690.00
Deafness, Autosomal Dominant 25 (DFNA25) via the SLC17A8 Gene$870.00$690.00
Deafness, Autosomal Dominant 2A (DFNA2A) via the KCNQ4 Gene$990.00$690.00
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene$490.00$690.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene$990.00$690.00
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene$490.00$690.00
Deafness, Autosomal Dominant 44 (DFNA44) via the CCDC50 Gene$970.00$690.00
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene$990.00$690.00
Deafness, Autosomal Dominant 4B (DFNA4B) via the CEACAM16 Gene$680.00$690.00
Deafness, Autosomal Dominant 64 (DFNA64) via the DIABLO Gene$990.00$690.00
Deafness, Autosomal Dominant 9 (DFNA9) via the COCH Gene$870.00$690.00
Deafness, Autosomal Recessive 15 (DFNB15) via the GIPC3 Gene$610.00$690.00
Deafness, Autosomal Recessive 22 (DFNB22) via the OTOA Gene$990.00$690.00
Deafness, Autosomal Recessive 24 (DFNB24) via the RDX Gene$940.00$690.00
Deafness, Autosomal Recessive 25 (DFNB25) via the GRXCR1 Gene$540.00$690.00
Deafness, Autosomal Recessive 28 (DFNB28) via the TRIOBP Gene$990.00$690.00
Deafness, Autosomal Recessive 29 (DFNB29) via the CLDN14 Gene$490.00$690.00
Deafness, Autosomal Recessive 3 (DFNB3) via the MYO15A Gene$990.00$690.00
Deafness, Autosomal Recessive 30 (DFNB30) via the MYO3A Gene$990.00$690.00
Deafness, Autosomal Recessive 35 (DFNB35) via the ESRRB Gene$810.00$690.00
Deafness, Autosomal Recessive 39 (DFNB39) via the HGF Gene$990.00$690.00
Deafness, Autosomal Recessive 42 (DFNB42) via the ILDR1 Gene$810.00$690.00
Deafness, Autosomal Recessive 49 (DFNB49) via the MARVELD2 Gene$810.00$690.00
Deafness, Autosomal Recessive 59 (DFNB59) via the DFNB59 Gene$990.00$690.00
Deafness, Autosomal Recessive 6 (DFNB6) via the TMIE Gene$540.00$690.00
Deafness, Autosomal Recessive 61 (DFNB61) via the SLC26A5 Gene$990.00$690.00
Deafness, Autosomal Recessive 63 (DFNB63) via the LRTOMT Gene$610.00$690.00
Deafness, Autosomal Recessive 67 (DFNB67) via the LHFPL5 Gene$490.00$690.00
Deafness, Autosomal Recessive 74 (DFNB74) via the MSRB3 Gene$680.00$690.00
Deafness, Autosomal Recessive 77 (DFNB77) via the LOXHD1 Gene$990.00$690.00
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via the TMPRSS3 Gene$870.00$690.00
Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene$990.00$690.00
Deafness, Autosomal Recessive 91 (DFNB91) via the SERPINB6 Gene$610.00$690.00
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via the FGF3 Gene$490.00$690.00
Deafness, X-Linked 4 (DFNX4) via the SMPX Gene$490.00$690.00
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene - Tier 1$890.00$690.00
MYH9-Related Disorders via the MYH9 Gene - Tier 2$1270.00$690.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00
PRPS1-Related Disorders$680.00$690.00
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via the DIAPH1 Gene$1090.00$690.00
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via the CIB2 Gene$710.00$690.00

Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm)

Test Available Sequencing Del/Dup Other
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via the FGF3 Gene$490.00$690.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00

Deafness, Autosomal Dominant

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Deafness, Autosomal Dominant 10 (DFNA10) via the EYA4 Gene$990.00$690.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$990.00$690.00
Deafness, Autosomal Dominant 15 (DFNA15) via the POU4F3 Gene$540.00$690.00
Deafness, Autosomal Dominant 20 (DFNA20) via the ACTG1 Gene$540.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$990.00$690.00
Deafness, Autosomal Dominant 25 (DFNA25) via the SLC17A8 Gene$870.00$690.00
Deafness, Autosomal Dominant 2A (DFNA2A) via the KCNQ4 Gene$990.00$690.00
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene$490.00$690.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene$990.00$690.00
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene$490.00$690.00
Deafness, Autosomal Dominant 40 (DFNA40) via the CRYM Gene$710.00$690.00
Deafness, Autosomal Dominant 44 (DFNA44) via the CCDC50 Gene$970.00$690.00
Deafness, Autosomal Dominant 4A (DFNA4A) via the MYH14 Gene$990.00$690.00
Deafness, Autosomal Dominant 4B (DFNA4B) via the CEACAM16 Gene$680.00$690.00
Deafness, Autosomal Dominant 51 (DFNA51) via the TJP2 Gene$990.00$690.00
Deafness, Autosomal Dominant 64 (DFNA64) via the DIABLO Gene$990.00$690.00
Deafness, Autosomal Dominant 9 (DFNA9) via the COCH Gene$870.00$690.00
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via the GRHL2 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene$990.00$690.00
MYH9-Related Disorders via the MYH9 Gene - Tier 1$890.00$690.00
MYH9-Related Disorders via the MYH9 Gene - Tier 2$1270.00$690.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via the DIAPH1 Gene$1090.00$690.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$990.00$690.00
WFS1-Related Disorders via the WFS1 Gene$870.00$690.00
Wolfram Syndrome Sanger Sequencing Panel$1310.00$730.00

Deafness, Autosomal Recessive

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Deafness, Autosomal Dominant 12 (DFNA12) and Deafness, Autosomal Recessive 21 (DFNB21) via the TECTA Gene$990.00$690.00
Deafness, Autosomal Dominant 22 (DFNA22) and Deafness, Autosomal Recessive 37 (DFNB37) via the MYO6 Gene$990.00$690.00
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene$490.00$690.00
Deafness, Autosomal Dominant 36 (DFNA36) and Deafness, Autosomal Recessive 7 (DFNB7) via the TMC1 Gene$990.00$690.00
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene$490.00$690.00
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene$490.00$690.00
Deafness, Autosomal Recessive 15 (DFNB15) via the GIPC3 Gene$610.00$690.00
Deafness, Autosomal Recessive 22 (DFNB22) via the OTOA Gene$990.00$690.00
Deafness, Autosomal Recessive 24 (DFNB24) via the RDX Gene$940.00$690.00
Deafness, Autosomal Recessive 25 (DFNB25) via the GRXCR1 Gene$540.00$690.00
Deafness, Autosomal Recessive 28 (DFNB28) via the TRIOBP Gene$990.00$690.00
Deafness, Autosomal Recessive 29 (DFNB29) via the CLDN14 Gene$490.00$690.00
Deafness, Autosomal Recessive 3 (DFNB3) via the MYO15A Gene$990.00$690.00
Deafness, Autosomal Recessive 30 (DFNB30) via the MYO3A Gene$990.00$690.00
Deafness, Autosomal Recessive 35 (DFNB35) via the ESRRB Gene$810.00$690.00
Deafness, Autosomal Recessive 39 (DFNB39) via the HGF Gene$990.00$690.00
Deafness, Autosomal Recessive 42 (DFNB42) via the ILDR1 Gene$810.00$690.00
Deafness, Autosomal Recessive 49 (DFNB49) via the MARVELD2 Gene$810.00$690.00
Deafness, Autosomal Recessive 59 (DFNB59) via the DFNB59 Gene$990.00$690.00
Deafness, Autosomal Recessive 6 (DFNB6) via the TMIE Gene$540.00$690.00
Deafness, Autosomal Recessive 61 (DFNB61) via the SLC26A5 Gene$990.00$690.00
Deafness, Autosomal Recessive 63 (DFNB63) via the LRTOMT Gene$610.00$690.00
Deafness, Autosomal Recessive 67 (DFNB67) via the LHFPL5 Gene$490.00$690.00
Deafness, Autosomal Recessive 74 (DFNB74) via the MSRB3 Gene$680.00$690.00
Deafness, Autosomal Recessive 77 (DFNB77) via the LOXHD1 Gene$990.00$690.00
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via the TMPRSS3 Gene$870.00$690.00
Deafness, Autosomal Recessive 9 (DFNB9) via the OTOF Gene$990.00$690.00
Deafness, Autosomal Recessive 91 (DFNB91) via the SERPINB6 Gene$610.00$690.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 18 (DFNB18) via the USH1C Gene$990.00$690.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene$870.00$690.00
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via the CIB2 Gene$710.00$690.00

Deafness, X-Linked

Test Available Sequencing Del/Dup Other
AIFM1-Related Disorders via the AIFM1 Gene$990.00$690.00
Alport Syndrome (AS) Sequencing Panel$1540.00$840.00
Deafness, X-Linked 2 (DFNX2) via the POU3F4 Gene$540.00$690.00
Deafness, X-Linked 4 (DFNX4) via the SMPX Gene$490.00$690.00
Deafness, X-linked 6 (DFNX6) via the COL4A6 Gene$990.00$690.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Nonsyndromic Hearing Loss and Deafness Sequencing Panel$1690.00$1670.00
PRPS1-Related Disorders$680.00$690.00

Doyne Honeycomb Retinal Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via the EFEMP1 Gene$810.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Duane Syndrome

Test Available Sequencing Del/Dup Other
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel$1890.00$840.00
Duane Retraction Syndrome Type 2 via the CHN1 Gene$910.00

Ectopia Lentis

Test Available Sequencing Del/Dup Other
Autosomal Recessive Isolated Ectopia Lentis-2 via the ADAMTSL4 Gene$1190.00$690.00

Enhanced S-Cone Syndrome

Test Available Sequencing Del/Dup Other
Retinitis Pigmentosa via the NR2E3 Gene$650.00$690.00

Episodic Pain Syndrome

Test Available Sequencing Del/Dup Other
Episodic Pain Syndrome Sequencing Panel$1440.00$690.00
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene$990.00
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene$990.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00

Erythropoietic Protoporphyria

Test Available Sequencing Del/Dup Other
Chronic/Cutaneous Porphyria Sequencing Panel$1390.00$840.00
Erythropoietic Protoporphyria via the FECH Gene$840.00$690.00
Porphyria Sequencing Panel$1390.00$840.00
X-linked Sideroblastic Anemia via the ALAS2 Gene$1020.00$690.00

Exudative Vitreoretinopathy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Familial Exudative Vitreoretinopathy 1 (FEVR1) via the FZD4 Gene$580.00$690.00
Familial Exudative Vitreoretinopathy 5 (FEVR5) via the TSPAN12 Gene$680.00$690.00
NDP-Related Vitreoretinopathies via the NDP gene$440.00$690.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00

eye

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00

Familial Amyloid Nephropathy

Test Available Sequencing Del/Dup Other
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene$990.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Familial Cold Autoinflammatory Syndrome

Test Available Sequencing Del/Dup Other
Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene$990.00$690.00
Periodic Fever Syndromes Sequencing Panel$1440.00$1290.00

Familial Exudative Vitreoretinopathy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Familial Exudative Vitreoretinopathy 1 (FEVR1) via the FZD4 Gene$580.00$690.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00

Familial Hemiplegic Migraine

Test Available Sequencing Del/Dup Other
Familial Hemiplegic Migraine 1 (FHM1) via the CACNA1A Gene$1290.00
Familial Hemiplegic Migraine 2 (FHM2) via the ATP1A2 Gene$990.00$690.00
Familial Hemiplegic Migraine Sequencing Panel$1640.00$770.00

Fibrosis Of Extraocular Muscles

Test Available Sequencing Del/Dup Other
Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A Gene$540.00$690.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel$1890.00$840.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via the TUBB3 Gene$540.00

Fish-Eye Disease

Test Available Sequencing Del/Dup Other
Fish-Eye Disease and Norum Disease via the LCAT Gene$650.00

Fleck Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00

Flecked Retina Disorder

Test Available Sequencing Del/Dup Other
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00

Foveal Hypoplasia 2

Test Available Sequencing Del/Dup Other
Isolated Foveal Hypoplasia Type 2 (FVH2) via the SLC38A8 Gene$840.00

Foveal Hypoplasia And Presenile Cataract Syndrome

Test Available Sequencing Del/Dup Other
Aniridia via The PAX6 Gene$910.00$690.00
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00

Frank Ter Haar Syndrome

Test Available Sequencing Del/Dup Other
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00

Fraser Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Fraser Syndrome Sequencing Panel$1490.00$770.00

Galactokinase Deficiency

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00
Galactosemia Type II via the GALK1 Gene$650.00$690.00

GAPO Syndrome

Test Available Sequencing Del/Dup Other
GAPO Syndrome via the ANTXR1 Gene$1100.00

Glaucoma

Test Available Sequencing Del/Dup Other
Amyotrophic Lateral Sclerosis via the OPTN Gene$830.00$690.00
Glaucoma Sequencing Panel$1940.00$840.00
Primary Congenital Glaucoma via the CYP1B1 Gene$650.00$690.00
Primary Congenital Glaucoma via the LTBP2 Gene$990.00$690.00
Primary Open Angle Glaucoma via the MYOC Gene$780.00$690.00

Groenouw Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
TGFBI-Associated Corneal Dystrophies via the TGFBI Gene$1020.00$690.00

Hyperferritinemia Cataract Syndrome

Test Available Sequencing Del/Dup Other
Hereditary Hemochromatosis Sequencing Panel$1490.00$730.00

Hypomyelination And Congenital Cataract

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00
Hypomyelination and Congenital Cataract (HCC) via the FAM126A Gene$780.00$690.00

Indifference To Pain

Test Available Sequencing Del/Dup Other
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene$990.00$690.00

Infantile cerebellar-retinal degeneration

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Infantile Cerebellar-Retinal Degeneration the ACO2 Gene$990.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Infantile Nystagmus

Test Available Sequencing Del/Dup Other
FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via the FRMD7 Gene$940.00$690.00

Inherited Systemic Hyaline

Test Available Sequencing Del/Dup Other
Hyaline Fibromatosis Syndrome via the ANTXR2 Gene$1060.00

Interstitial Lung and Liver Disease

Test Available Sequencing Del/Dup Other
Charcot Marie Tooth Type 2U via the MARS Gene$990.00$690.00

Iridogoniodysgenesis

Test Available Sequencing Del/Dup Other
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
FOXC1-Related Disorders via the FOXC1 Gene$870.00$690.00
Glaucoma Sequencing Panel$1940.00$840.00
PITX2- Related Disorders via PITX2 Gene$580.00$690.00

Jensen Syndrome

Test Available Sequencing Del/Dup Other
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene$490.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Juvenile Macular Degeneration And Hypotrichosis

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Kallmann Syndrome

Test Available Sequencing Del/Dup Other
CHARGE and Kallmann Syndromes Sequencing Panel$1440.00$730.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel$1540.00$1290.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via the PROK2 Gene$580.00$690.00
Kallmann Syndrome Sequencing Panel$1440.00$770.00
Kallmann Syndrome via the KAL1(ANOS1) Gene$990.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00

Keratoconus

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00
Corneal Dystrophies Sequencing Panel$1840.00$840.00
Keratoconus and Posterior Polymorphous Corneal Dystrophy via the VSX1 Gene$650.00$690.00

Keratosis

Test Available Sequencing Del/Dup Other
Glaucoma Sequencing Panel$1940.00$840.00

Knobloch Syndrome

Test Available Sequencing Del/Dup Other
Knobloch Syndrome, Type I via the COL18A1 Gene$1750.00$690.00

Late-Onset Retinal Degeneration

Test Available Sequencing Del/Dup Other
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel$1840.00$1290.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Lattice Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
Gelatinous Drop-Like Corneal Dystrophy (GDLD) via theTACSTD2 Gene$540.00$690.00
TGFBI-Associated Corneal Dystrophies via the TGFBI Gene$1020.00$690.00

Leber Congenital Amaurosis

Test Available Sequencing Del/Dup Other
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel$1840.00$1290.00
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Leber Congenital Amaurosis 1 (LCA1) and Cone-Rod dystrophy 6 (CORD6) via the GUCY2D Gene$970.00$690.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$990.00$690.00
Leber Congenital Amaurosis 13 (LCA13), Retinitis Pigmentosa 53 (RP53) and Early Onset Cone-Rod Dystrophy (CORD) via the RDH12 Gene$610.00$690.00
Leber congenital amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis pigmentosa via the LRAT Gene$440.00$690.00
Leber Congenital Amaurosis 2 (LCA2) and Retinitis Pigmentosa 20 (RP20) via the RPE65 Gene$840.00$690.00
Leber Congenital Amaurosis 4 (LCA4) via the AIPL1 Gene$580.00$690.00
Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene$990.00$690.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Leber Congenital Amaurosis via the CRX Gene$490.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
Retinitis Pigmentosa via the IMPDH1 Gene$910.00$690.00
RPGRIP1-Related Retinal Disorders via the RPGRIP1 Gene$990.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00
TULP1-Associated Disorders via the TULP1 Gene$750.00$690.00

Lenz Microphthalmia Syndrome

Test Available Sequencing Del/Dup Other
X-linked Lenz Microphthalmia Syndrome and Lethal Ogden Syndrome via the NAA10 Gene$680.00

Lowe Syndrome

Test Available Sequencing Del/Dup Other
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via the OCRL Gene$990.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Macular Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
Macular Corneal Dystrophy (MCD) via the CHST6 Gene$370.00$690.00

Macular Degeneration

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy (CRD11) via the Rax2 (Qrx) Gene$540.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00
Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene$1290.00$690.00
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) Sequencing Panel$1740.00$770.00
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene$1090.00$690.00

Macular Dystrophy

Test Available Sequencing Del/Dup Other
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene$990.00$690.00
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene$840.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Macular Dystrophy Patterned

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Macular Dystrophy Vitelliform

Test Available Sequencing Del/Dup Other
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene$840.00$690.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00

Manitoba Oculotrichoanal Syndrome

Test Available Sequencing Del/Dup Other
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Fraser Syndrome Sequencing Panel$1490.00$770.00
Manitoba Oculotrichoanal Syndrome (MOTA) via the FREM1 Exon 8-23 Deletion$250.00

Marinesco-Sjogren Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Neuromuscular Sequencing Panel$2490.00$1990.00
Congenital Cataracts Sequencing Panel$1840.00$840.00
Marinesco-Sjogren Syndrome via the SIL1 Gene$750.00$690.00

Martsolf Syndrome

Test Available Sequencing Del/Dup Other
Warburg Micro Syndrome Sequencing Panel$1490.00$840.00

Megalocornea

Test Available Sequencing Del/Dup Other
X-linked Megalocornea 1 (MGC1) via the CHRDL1 Gene$810.00$690.00

Microcephaly

Test Available Sequencing Del/Dup Other
CENPJ-Related Disorders via the CENPJ Gene$1060.00$690.00
Chromosomal Instability Syndromes Sequencing Panel$1590.00$840.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Hereditary Breast and Ovarian Cancer Syndrome - HBOC EXPANDED Sequencing and Deletion/Duplication Panel$1190.00
Lymphedema Sequencing Panel$1940.00$840.00
Microcephaly, Lymphedema, and Chorioretinal Dysplasia (MLCRD) / Chorioretinal Dysplasia, Microcephaly, and Mental Retardation (CDMMR) / Familial Exudative Vitreoretinopathy (FEVR) via the KIF11 Gene$990.00$690.00
Nijmegen Breakage Syndrome via the NBN Gene$990.00$690.00
Primary Microcephaly, Autosomal Recessive, Sanger Sequencing Panel$8340.00$840.00
Primary Microcephaly, Autosomal Recessive, via the ASPM Gene$2170.00$690.00
Primary Microcephaly, Autosomal Recessive, via the CDK5RAP2 Gene$1750.00$690.00
Primary Microcephaly, Autosomal Recessive, via the CEP152 Gene$1490.00$690.00
Primary Microcephaly, Autosomal Recessive, via the MCPH1 Gene$780.00$690.00
Primary Microcephaly, Autosomal Recessive, via the STIL Gene$1130.00$690.00
Primary Microcephaly, Autosomal Recessive, via the WDR62 Gene$1430.00$690.00
Primordial Dwarfism via the XRCC4 Gene$750.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00

Microphthalmia

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Glaucoma Sequencing Panel$1940.00$840.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Male Infertility Sequencing Panel$2190.00$1670.00
MFRP-Related Oculopathy via the MFRP Gene$810.00$690.00
Microphthalmia and Anophthalmia via the RAX Gene$540.00
Posterior Microphthalmia via the PRSS56 Gene$780.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
SOX2-Related Ocular Disorders via the SOX2 Gene$610.00$690.00
Syndromic Microphthalmia via the OTX2 Gene$490.00$690.00

Microspherophakia and/or Megalocornea

Test Available Sequencing Del/Dup Other
Glaucoma Sequencing Panel$1940.00$840.00

Mitochondrial Complex I Deficiency

Test Available Sequencing Del/Dup Other
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFAF2 Gene$580.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via the NDUFS1 Gene$990.00$690.00
Mitochondrial Complex I Deficiency Sequencing Panel (Nuclear Genes)$1980.00$730.00
Mitochondrial Complex I Deficiency via the NDUFA1 Gene$490.00
Mitochondrial Complex I Deficiency via the NDUFA11 Gene$580.00
Mitochondrial Complex I Deficiency via the NDUFAF1 Gene$610.00
Mitochondrial Complex I Deficiency via the NDUFAF4 Gene$540.00
Mitochondrial Complex I Deficiency via the NDUFB3 Gene$490.00
Mitochondrial Complex I Deficiency via the NDUFB9 Gene$580.00
Mitochondrial Complex I Deficiency via the NDUFS4 Gene$650.00
Mitochondrial Complex I Deficiency via the NDUFS6 Gene$580.00
Mitochondrial Complex I Deficiency via the NDUFV1 Gene$710.00
Mitochondrial Complex I Deficiency via the NDUFV2 Gene$750.00
Mitochondrial Complex I Deficiency via the NUBPL Gene$870.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Mohr-Tranebjaerg Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg/Jensen) Syndrome via the TIMM8A Gene$490.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

MORM Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00

Multiple Epiphyseal Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
COMP-Related Disorders via the COMP Gene$990.00$690.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive, via the COL9A2 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Multiple Epiphyseal Dysplasia via the COL9A3 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia via the MATN3 Gene$770.00$690.00
Multiple Epiphyseal Dysplasia, Recessive (EDM4/rMED) via the SLC26A2 Gene$650.00$690.00
Stickler Syndrome Sequencing Panel$1840.00$840.00

Nance-Horan Syndrome

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00
X-linked Nance-Horan Syndrome and Congenital Cataract via the NHS Gene$990.00$690.00

Nanophthalmos

Test Available Sequencing Del/Dup Other
Glaucoma Sequencing Panel$1940.00$840.00

Nephrotic Syndrome, With Or Without Ocular Abnormalities

Test Available Sequencing Del/Dup Other
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel$1990.00$1290.00
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 Gene$990.00$690.00

Neuropathy Hereditary Sensory and Autonomic

Test Available Sequencing Del/Dup Other
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel$2090.00$1670.00
Charcot Marie Tooth - Comprehensive Sequencing Panel$2140.00$1670.00
Complex Hereditary Spastic Paraplegia Sequencing Panel$2340.00$1290.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Cutis Laxa via the FBLN5 Gene$840.00$690.00
Episodic Pain Syndrome Sequencing Panel$1440.00$690.00
Familial Episodic Pain Type 3 (FEPS3) Syndrome, Hereditary Sensory and Autonomic Neuropathy Type VII (HSAN7), and other Pain-Related Disorders via the SCN11A Gene$990.00
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via the RAB7A Gene$580.00$690.00
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel$1790.00$840.00
Hereditary Sensory and Autonomic Neuropathy Type V (HSAN5) via the NGF Gene$490.00
Hereditary Sensory Neuropathy with Spastic Paraplegia via the CCT5 Gene$990.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel$2540.00$1290.00

Night Blindness, Congenital Stationary

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Cone-Rod Dystrophy via the CABP4 Gene$610.00$690.00
Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene$990.00$690.00
Congenital Stationary Night Blindness Sequencing Panel$1590.00$1290.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Norrie Disease

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
NDP-Related Vitreoretinopathies via the NDP gene$440.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Norum Disease

Test Available Sequencing Del/Dup Other
Fish-Eye Disease and Norum Disease via the LCAT Gene$650.00

Nystagmus

Test Available Sequencing Del/Dup Other
Ocular Albinism (OA1) via the GPR143 Gene$810.00
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00

Ocular Albinism

Test Available Sequencing Del/Dup Other
Ocular Albinism (OA1) via the GPR143 Gene$810.00
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene$680.00$690.00
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$690.00

Oculocutaneous Albinism

Test Available Sequencing Del/Dup Other
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene$680.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$990.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion$490.00
Oculocutaneous Albinism Type 3 (OCAIII) via the TYRP1 Gene$750.00
Oculocutaneous Albinism Type 4 (OCAIV) via the SLC45A2 Gene$780.00
Oculocutaneous Albinism Type 7 (OCAVII) via the C10orf11 Gene$610.00

Oculodentodigital Dysplasia

Test Available Sequencing Del/Dup Other
OculoDentoDigital Dysplasia (ODDD) via the GJA1 Gene$250.00$690.00

Oculofaciocardiodental Syndrome

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene$990.00$690.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Oguchi's Disease

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Congenital Stationary Night Blindness Sequencing Panel$1590.00$1290.00

Ophthalmoplegia With Mitochondrial DNA Deletions

Test Available Sequencing Del/Dup Other
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$780.00$690.00

Optic Atrophy

Test Available Sequencing Del/Dup Other
Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via the OPA1 Gene$990.00$690.00
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene$490.00$690.00
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via the NR2F1 Gene$580.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy 7 (OPA7) via the TMEM126A Gene$540.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00

Optic Atrophy And Cataract

Test Available Sequencing Del/Dup Other
Autosomal Dominant Optic atrophy with cataract (ADOAC) and Costeff Syndrome or 3-methylglutaconic aciduria, type III (MGA3) via the OPA3 Gene$490.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy Sequencing Panel$1590.00$1290.00

Optic Nerve Hypoplasia

Test Available Sequencing Del/Dup Other
Aniridia via The PAX6 Gene$910.00$690.00
Glaucoma Sequencing Panel$1940.00$840.00

Osteopetrosis With Renal Tubular Acidosis

Test Available Sequencing Del/Dup Other
Distal Renal Tubular Acidosis Sequencing Panel$1440.00$840.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel$1940.00$1290.00
Osteopetrosis via the CA2 Gene$810.00$690.00

Otospondylomegaepiphyseal Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene$990.00$690.00

Panic Disorder

Test Available Sequencing Del/Dup Other
Increased Pain Sensitivity via the COMT Gene$610.00

Papillorenal Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel$2690.00$1290.00
Renal Coloboma Syndrome and Isolated Renal Hypoplasia via the PAX2 Gene$780.00$690.00

Paroxysmal Extreme Pain Disorder

Test Available Sequencing Del/Dup Other
Episodic Pain Syndrome Sequencing Panel$1440.00$690.00
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene$990.00$690.00

Patterned Dystrophy Of Retinal Pigment Epithelium

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Pendred's Syndrome

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00

Peroxisome biogenesis disorder

Test Available Sequencing Del/Dup Other
Acyl-CoA Oxidase Deficiency via the ACOX1 Gene$990.00$690.00
Comprehensive Fetal and Neonatal Loss Panel
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Fetal Concerns Sequencing Panel$1590.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 Gene$990.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX10 Gene$610.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX11B Gene$990.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX12 Gene$390.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX13 Gene$580.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene$710.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene$810.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX19 Gene$650.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX2 Gene$490.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 Gene$610.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene$810.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene$940.00$690.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX6 Gene$970.00$690.00
Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene$780.00$690.00

Perrault Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene$680.00$690.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
Perrault Syndrome Type 1 via the HSD17B4 Gene$990.00$690.00
Perrault Syndrome Type 2 via the HARS2 Gene$780.00$690.00
Perrault Syndrome Type 3 and Deafness, Autosomal Recessive 8 (DFNB8) via the CLPP Gene$650.00$690.00
Perrault Syndrome Type 4 via the LARS2 Gene$1160.00$690.00

Peters Anomaly

Test Available Sequencing Del/Dup Other
Axenfeld-Rieger Syndrome Sequencing Panel$1790.00$840.00
Glaucoma Sequencing Panel$1940.00$840.00
PITX2- Related Disorders via PITX2 Gene$580.00$690.00

Peters Plus Syndrome

Test Available Sequencing Del/Dup Other
Peters Plus Syndrome via the B3GALTL/B3GLCT Gene$1060.00$690.00

Pigmentary Retinal Dystrophy

Test Available Sequencing Del/Dup Other
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel$1840.00$1290.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Congenital Stationary Night Blindness Sequencing Panel$1590.00$1290.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Fundus Albipunctatus With or Without Cone Dystrophy via the RDH5 Gene$610.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00
RHO-Related Disorders via the RHO Gene$580.00$690.00
RLBP1-Related Disorders via the RLBP1 Gene$650.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Pigmented Paravenous Chorioretinal Atrophy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene$990.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Pili Torti-Deafness Syndrome

Test Available Sequencing Del/Dup Other
Bjornstad Syndrome via the BCS1L Gene$650.00
Mitochondrial Complex III Deficiency Sequencing Panel (Nuclear Genes)$1650.00

Polymorphous Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
Keratoconus and Posterior Polymorphous Corneal Dystrophy via the VSX1 Gene$650.00$690.00

Primary Erythromelalgia

Test Available Sequencing Del/Dup Other
Episodic Pain Syndrome Sequencing Panel$1440.00$690.00
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene$990.00$690.00

Progressive External Ophthalmoplegia with Mitochondrial DNA Depletion

Test Available Sequencing Del/Dup Other
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene$580.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene$680.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia via the DNA2 Gene$990.00$690.00
Autosomal Dominant Progressive External Ophthalmoplegia via the POLG2 Gene$710.00$690.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
POLG-Related Mitochondrial Disorders via the POLG Gene$990.00$690.00
RRM2B-Related Mitochondrial Disorders via the RRM2B Gene$780.00$690.00

Refsum Disease

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Peroxisomal Disorders Sequencing Panel$1690.00$1290.00
Refsum Disease via the PHYH Gene$840.00$690.00

Reis-Bucklers' Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00

Renal Dysplasia And Retinal Aplasia

Test Available Sequencing Del/Dup Other
Ciliopathy Sequencing Panel$2990.00$1670.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Nephronophthisis and Joubert Syndrome via the NPHP1 Gene$990.00$690.00
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel$1840.00$1290.00

Retinal and/or Macular Dystrophy

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00

Retinal Cone Dystrophy

Test Available Sequencing Del/Dup Other
Achromatopsia (ACHM) Sequencing Panel$1440.00$840.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Cone-Rod Dystrophy via the CACNA2D4 Gene$990.00$690.00
Cone-Rod Dystrophy via the KCNV2 Gene$580.00$690.00
Congenital Stationary Night Blindness Sequencing Panel$1590.00$1290.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00

Retinitis Pigmentosa

Test Available Sequencing Del/Dup Other
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene$990.00$690.00
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via the CA4 Gene$680.00$690.00
Autosomal Dominant Retinitis pigmentosa 27 (RP27) and Autosomal Recessive Retinal Degeneration, Clumped Pigment Type via the NRL Gene$490.00$690.00
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via the TOPORS Gene$810.00$690.00
Autosomal Dominant Retinitis Pigmentosa 48 (RP48) via the GUCA1B Gene$490.00$690.00
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel$1840.00$1290.00
Autosomal Dominant Retinitis Pigmentosa via the PRPF6 Gene$1590.00
Autosomal Dominant Retinitis Pigmentosa via the SNRNP200 Gene$1590.00
Autosomal Recessive Retinitis pigmentosa 26 (RP26) via the CERKL Gene$870.00$690.00
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Autosomal Recessive Retinitis Pigmentosa via the EYS Gene$990.00
Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 Gene$990.00
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene$840.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Congenital Stationary Night Blindness Sequencing Panel$1590.00$1290.00
Leber Congenital Amaurosis 2 (LCA2) and Retinitis Pigmentosa 20 (RP20) via the RPE65 Gene$840.00$690.00
Leber Congenital Amaurosis and Retinitis Pigmentosa via the CRB1 Gene$990.00$690.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
OFD1-Related Disorders via the OFD1 Gene$990.00$690.00
Oguchi Disease and Retinitis Pigmentosa (RP47) via the SAG Gene$910.00$690.00
PDE6B Related Disorders via the PDE6B Gene$990.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
Retinitis Pigmentosa 35 (RP35) and Cone-Rod Dystrophy 10 (CORD10) via the SEMA4A Gene$940.00$690.00
Retinitis Pigmentosa 38 (RP38) via the MERTK Gene$1220.00$690.00
Retinitis Pigmentosa 58 (RP58) via the ZNF513 Gene$650.00
Retinitis Pigmentosa 7 via the ROM1 Gene$540.00$690.00
Retinitis Pigmentosa via the CNGA1 Gene$750.00$690.00
Retinitis Pigmentosa via the CNGB1 Gene$1,340.00
Retinitis Pigmentosa via the IMPDH1 Gene$910.00$690.00
Retinitis Pigmentosa via the NR2E3 Gene$650.00$690.00
Retinitis Pigmentosa via the PDE6A Gene$990.00$690.00
Retinitis Pigmentosa via the PRPF3 Gene$870.00$690.00
Retinitis Pigmentosa via the PRPF31 Gene$810.00$690.00
Retinitis Pigmentosa via the PRPF8 Gene$1750.00$690.00
Retinitis Pigmentosa via the PRPH2 (RDS) Gene$490.00$690.00
Retinitis Pigmentosa via the RP1 Gene$990.00$690.00
RHO-Related Disorders via the RHO Gene$580.00$690.00
RLBP1-Related Disorders via the RLBP1 Gene$650.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00
Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene$1290.00$690.00
TULP1-Associated Disorders via the TULP1 Gene$750.00$690.00
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) Sequencing Panel$1740.00$770.00
X-linked Retinitis Pigmentosa (XLRP) via the RP2 Gene$590.00$690.00
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene$1090.00$690.00

Retinoblastoma

Test Available Sequencing Del/Dup Other
Retinoblastoma via the RB1 Gene$990.00$690.00

Retinoschisis

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00
X-linked Juvenile Retinoschisis via the RS1 Gene$650.00$690.00

Ring Dermoid Of Cornea

Test Available Sequencing Del/Dup Other
Glaucoma Sequencing Panel$1940.00$840.00
PITX2- Related Disorders via PITX2 Gene$580.00$690.00

Rod-Cone Dystrophy

Test Available Sequencing Del/Dup Other
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel$1840.00$1290.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00
RLBP1-Related Disorders via the RLBP1 Gene$650.00$690.00

Schnyder Crystalline Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
Schnyder Crystalline Corneal Dystrophy (SCCD) via the UBIAD1 Gene$580.00$690.00

Schwannomatosis

Test Available Sequencing Del/Dup Other
Noonan Syndrome via the LZTR1 Gene$990.00
Rhabdoid Tumor Predisposition Syndrome via the SMARCB1 Gene$810.00$690.00
Schwannomatosis Sequencing Panel$1440.00$690.00

Seizures, Cortical Blindness, Microcephaly Syndrome

Test Available Sequencing Del/Dup Other
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via the DIAPH1 Gene$1090.00$690.00

Sengers syndrome

Test Available Sequencing Del/Dup Other
Congenital Cataracts Sequencing Panel$1840.00$840.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Sengers Syndrome via the AGK Gene$990.00$690.00

Senior-Loken Syndrome

Test Available Sequencing Del/Dup Other
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel$2240.00$1670.00
Ciliopathy Sequencing Panel$2990.00$1670.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Leber Congenital Amaurosis 10 (LCA10) via the CEP290 Gene$990.00$690.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene$990.00$690.00
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel$1840.00$1290.00
Nephronophthisis and Senior-Loken Syndrome via the IQCB1/NPHP5 Gene$790.00$690.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel$2890.00$1670.00

Septo-optic Dysplasia

Test Available Sequencing Del/Dup Other
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel$1940.00$1290.00
Disorders of Sex Development and Infertility Sequencing Panel$2240.00$1670.00
Disorders of Sex Development Sequencing Panel$1990.00$1670.00
Female Infertility Sequencing Panel$1990.00$1670.00
HESX1-Related Disorders via the HESX1 Gene$580.00$690.00
Male Infertility Sequencing Panel$2190.00$1670.00

SESAME Syndrome

Test Available Sequencing Del/Dup Other
Early Infantile Epileptic Encephalopathy Sequencing Panel$1890.00$1670.00
Early Infantile Epileptic Encephalopathy, Recessive Sequencing Panel$1690.00$1670.00
Hypomagnesemia Sequencing Panel$1590.00$1290.00

Skin/Hair/Eye Pigmentation, Variation In,

Test Available Sequencing Del/Dup Other
Oculocutaneous Albinism Sequencing Panel$1440.00$840.00
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene$680.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Gene$990.00$690.00
Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion$490.00
Oculocutaneous Albinism Type 6 (OCAVI) via the SLC24A5 Gene$750.00

Sorsby Fondus Dystrophy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Sorsby Fundus Dystrophy via the TIMP3 Gene$540.00$690.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Spastic Ataxia

Test Available Sequencing Del/Dup Other
Optic Atrophy Sequencing Panel$1590.00$1290.00
Spastic Ataxia with Optic Atrophy (SPAX4) via the MTPAP Gene$990.00$690.00
Spastic Paraplegia 58 via the KIF1C Gene$1590.00

Spastic Paraplegia

Test Available Sequencing Del/Dup Other
Complex Hereditary Spastic Paraplegia Sequencing Panel$2340.00$1290.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel$2540.00$1290.00
L1 Syndrome via the L1CAM Gene$1220.00$690.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel$2390.00$730.00
Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 gene$990.00$690.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
PLP1-Related Disorders via the PLP1 Gene$610.00$690.00
Pure Hereditary Spastic Paraplegia Sequencing Panel$2090.00$840.00
REEP1-Related Disorders via the REEP1 Gene$610.00$690.00
Seipin-Related Disorders via the BSCL2 Gene$780.00$690.00
Spastic Paraplegia 10 via the KIF5A Gene$1590.00$690.00
Spastic Paraplegia 11 via the SPG11 Gene$1590.00
Spastic Paraplegia 12 via the RTN2 Gene$1590.00
Spastic Paraplegia 13 via the HSPD1 Gene$840.00
Spastic Paraplegia 18 via the ERLIN2 Gene$1590.00
Spastic Paraplegia 21 (Mast Syndrome) via the SPG21(ACP33) Gene$750.00
Spastic Paraplegia 28 via the DDHD1 Gene$1590.00
Spastic Paraplegia 3A via the ATL1 Gene$970.00
Spastic Paraplegia 4 via the SPAST Gene$1100.00
Spastic Paraplegia 47 via the AP4B1 Gene$1590.00
Spastic Paraplegia 49 via the TECPR2 Gene$1590.00
Spastic Paraplegia 50 via the AP4M1 Gene$1590.00
Spastic Paraplegia 51 via the AP4E1 Gene$1590.00
Spastic Paraplegia 52 via the AP4S1 Gene$610.00
Spastic Paraplegia 53 via the VPS37A Gene$870.00
Spastic Paraplegia 54 via the DDHD2 Gene$1590.00$690.00
Spastic Paraplegia 5A via the CYP7B1 Gene$710.00
Spastic Paraplegia 6 via the NIPA1 Gene$610.00
Spastic Paraplegia 61 via the ARL6IP1 Gene$680.00
Spastic Paraplegia 72 via the REEP2 Gene$680.00
Spastic Paraplegia 8 via the WASHC5/KIAA0196 Gene$1590.00
X-Linked Intellectual Disability Sequencing Panel$2940.00$1670.00

Spinocerebellar Ataxia

Test Available Sequencing Del/Dup Other
Ataxia with Oculomotor Apraxia Sequencing Panel$1440.00$770.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-related disorders via the TWNK/C10orf2 Gene$680.00$690.00
Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene$990.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Comprehensive Neuropathy Sequencing Panel$1990.00$1670.00
Distal Hereditary Motor Neuropathy Sequencing Panel$1740.00$1290.00
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel$1540.00$1290.00
Spinocerebellar Ataxia 21 via the TMEM240 Gene$680.00

Spondyloepimetaphyseal Dysplasia

Test Available Sequencing Del/Dup Other
Chronic Joint Pain and Dysfunction via the MMP13 Gene$750.00

Spondyloepiphyseal Dysplasia

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Ehlers-Danlos Syndrome Sequencing Panel$1890.00$840.00
TRPV4-related Disorders via the TRPV4 Gene$890.00$690.00

Stapes Ankylosis

Test Available Sequencing Del/Dup Other
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene$440.00

Stargardt Disease

Test Available Sequencing Del/Dup Other
'Bull's Eye' Macular Dystrophy (BEM), Cone-Rod Dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene$990.00$690.00
Achromatopsia via the CNGB3 Gene$970.00$690.00
Autosomal Dominant Stargardt disease (STGD3) via the ELOVL4 Gene$610.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Cone-Rod Dystrophy Sequencing Panel$1690.00$1290.00
Flecked Retina Disorder Sequencing Panel$1790.00$840.00
Leber Congenital Amaurosis Sequencing Panel$1690.00$1290.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00
Stargardt disease (STGD), Fundus Flavimaculatus (FFM) or Retinal Dystrophy, Early-Onset Severe via the ABCA4 Gene$1290.00$690.00

Stickler Syndrome, Nonsyndromic Ocular

Test Available Sequencing Del/Dup Other
COL2A1-Related Disorders via the COL2A1 Gene$990.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Multiple Epiphyseal Dysplasia Sequencing Panel$1890.00$840.00
Stickler Syndrome Sequencing Panel$1840.00$840.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00
Wagner Syndrome via the VCAN Gene$990.00$690.00

Sveinsson Chorioretinal Atrophy

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00

Tarsal Carpal Coalition Syndrome

Test Available Sequencing Del/Dup Other
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via the NOG Gene$440.00

Theil-Behnke Corneal Dystrophy

Test Available Sequencing Del/Dup Other
Corneal Dystrophies Sequencing Panel$1840.00$840.00
TGFBI-Associated Corneal Dystrophies via the TGFBI Gene$1020.00$690.00

Thrombocytopenia

Test Available Sequencing Del/Dup Other
Bleeding Disorders Sequencing Panel$2490.00$1670.00
Congenital Amegakaryocytic Thrombocytopenia via the MPL Gene$710.00$690.00
Congenital Dyserythropoietic Anemia Sequencing Panel$1440.00$840.00
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Sequencing Panel$1690.00$840.00
Paris-Trousseau Thrombocytopenia via the FLI1 Gene$810.00
Thrombocytopenia and Predisposition to Myeloid Malignancies via the ANKRD26 Gene$990.00$690.00
Thrombocytopenia Sequencing Panel$1590.00$1290.00
Thrombocytopenia Sequencing Panel - Expanded$1990.00$1290.00
Thrombocytopenia via the CYCS Gene$370.00
Thrombocytopenia via the GATA1 Gene$560.00$690.00
Thrombocytopenia via the MASTL Gene$890.00$690.00
Thrombocytopenia with Predisposition to Acute Myelogenous Leukemia via the RUNX1 Gene$680.00$690.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene$540.00
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene - Sequencing and 1q21.1 Deletion
Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion
Wiskott-Aldrich Syndrome, X-linked Thrombocytopenia, and X-linked Congenital Neutropenia, via the WAS Gene$710.00$690.00

Tietz Syndrome

Test Available Sequencing Del/Dup Other
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$690.00

Usher Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Usher Syndrome Sequencing Panel$1590.00$1290.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 12 (DFNB12) via the CDH23 Gene$990.00$690.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 18 (DFNB18) via the USH1C Gene$990.00$690.00
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 23 (DFNB23) via the PCDH15 Gene$1190.00$690.00
Usher Syndrome Type 1 via the USH1G Gene$580.00$690.00
Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A Gene$990.00$690.00
Usher Syndrome Type 2 and Deafness, Autosomal Recessive 31 (DFNB31) via the WHRN Gene$870.00$690.00
Usher Syndrome Type 2 via the ADGRV1 (GPR98) Gene$990.00$690.00
Usher Syndrome Type 2 via the USH2A Gene$1190.00$690.00
Usher Syndrome Type 2C and Deafness, Autosomal Recessive 57 (DFNB57) via the PDZD7 Gene$990.00$690.00
Usher Syndrome Type 3 via the CLRN1 Gene$490.00$690.00
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via the CIB2 Gene$710.00$690.00

Vitelliform Dystrophy

Test Available Sequencing Del/Dup Other
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene$840.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Vitreoretinochoroidopathy

Test Available Sequencing Del/Dup Other
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 gene$840.00$690.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel$2290.00$1290.00

Waardenburg Syndrome

Test Available Sequencing Del/Dup Other
Anophthalmia / Microphthalmia Sequencing Panel$1490.00$840.00
Hirschsprung Disease 2 (HSCR2) via the EDNRB Gene$680.00$690.00
Hirschsprung Disease 4 (HSCR4) via the EDN3 Gene$580.00$690.00
Waardenburg Syndrome Sequencing Panel$1290.00$840.00
Waardenburg Syndrome Type IIA via the MITF Gene$780.00$690.00
Waardenburg Syndrome Type IID via the SNAI2 Gene$540.00$690.00
Waardenburg Syndrome Type IVA via the EDNRB Gene$680.00$690.00
Waardenburg Syndrome Type IVB via the EDN3 Gene$580.00$690.00
Waardenburg Syndrome Types I and III via the PAX3 Gene$680.00$690.00
Waardenburg Syndrome Types IIE and IVC via the SOX10 Gene$680.00$690.00

Wagner Syndrome

Test Available Sequencing Del/Dup Other
Stickler Syndrome Sequencing Panel$1840.00$840.00
Vitreoretinopathy Sequencing Panel$1590.00$840.00
Wagner Syndrome via the VCAN Gene$990.00$690.00

Warburg Micro Syndrome

Test Available Sequencing Del/Dup Other
Warburg Micro Syndrome Sequencing Panel$1490.00$840.00

Weill-Marchesani Syndrome

Test Available Sequencing Del/Dup Other
Glaucoma Sequencing Panel$1940.00$840.00

Wolfram Syndrome

Test Available Sequencing Del/Dup Other
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel$2390.00$0.00
Optic Atrophy Sequencing Panel$1590.00$1290.00
Wolfram Syndrome Sanger Sequencing Panel$1310.00$730.00
Wolfram Syndrome Type 2 via the CISD2 Gene$440.00$690.00

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