Gene

ABCC6

Pathology

Congenital vascular malformations; Juvenile hemorrhagic stroke.

NGS

Gene

COL3A1

Pathology

Congenital vascular malformations; Juvenile hemorrhagic stroke.

NGS

Gene

CHM

Pathology

Choroideremia

NGS

Gene

OAT

Pathology

Gyrate atrophy of choroid and retina.

NGS

Gene

USH1C

Pathology

Usher syndrome.

NGS

Gene

APC

Pathology

Familial adenomatous polyposis.

NGS

Gene

COL2A1

Pathology

Stickler syndrome.

NGS