Test Code: ACMTPS

Genes: CNGB3 (1 genes)

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

Method: Sanger Sequencing

Turnaround Time: 10 Days

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

Price: 650

Description:
CNGB3 encodes the beta subunit of the cone cyclic nucleotide-gated (CNG) channel, essential for cone photoreceptor function. Loss-of-function variants in CNGB3 are a well-established cause of autosomal recessive achromatopsia (ACHM3).