Gastrointestinal Defects and Immunodeficiency Syndrome-2 (PI4KA) Targeted Testing

Short Name: PI4KA Targeted

Gastrointestinal defects and immunodeficiency syndrome-2 is a severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. It is caused by a pathogenic variant in the PI4KA gene. This targeted test will specifically analyze the c.4867T>G (p.Tyr1623ASP) variant identified in the Amish population.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 619708
MedGen: 1811526