Chain798: Hyperphenylalaninemia

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
PTSchr11:112099388,chr11:112103901
PAHchr12:103306601,chr12:103246701,chr12:103237484,chr12:103237454,chr12:103234250

Qualitative

Type

text

Possible responses

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