Chain452: Cystinuria

This is a rare disease.

Example use A

Rare disease screening of newborns or adults thinking of having children. Could also be used as part of a comprehensive analysis of a person's genes.

Developer

Dr. Colby

Genetic info

GenesGenetic variants
SLC3A1chr2:44513213,chr2:44547360,chr2:44539792,chr2:44508562

Qualitative

Type

text

Possible responses

Carrier, Possibly Affected, Not Detected, insufficient data, error