Test Code: PNL001

Genes: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H (6 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation. Sequencing

Turnaround Time: 2-3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1600

Description:
Achromatopsia is characterised by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination.