Ophthalmology | Test catalog for genetic & genomic testing | GeneDx

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Conditions

Genes

HPS3 Mutation Analysis (Ashkenazi Jewish) Test Code: 189

Leber Congenital Amaurosis (RPGRIP1) Test Code: TB25

Mito Genome Sequencing & Deletion Testing Test Code: 554

Enhanced S-cone Syndrome (NR2E3) Test Code: TB05

Renal-Coloboma Syndrome / Papillorenal Syndrome (PAX2) Test Code: TB29

PAX6 Gene Sequencing & Del/Dup Panel Test Code: 491

Axenfeld-Rieger Syndrome (PITX2) Test Code: TB17

Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup Test Code: 428

Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel Test Code: 577

Autosomal Dominant Retinitis Pigmentosa (PRPF3) Test Code: TB24

PRPH2-Related Disorders (PRPH2) Test Code: TA68

Autosomal Dominant Retinitis Pigmentosa (RHO) Test Code: TA67

Fundus Albipunctatus (RLBP1) Test Code: TB28

X-Linked Retinitis Pigmentosa (RP2) Test Code: TA72

Leber Congenital Amaurosis (RPE65) Test Code: TA75