Primary Ciliary Dyskinesia-5 (HYDIN) Targeted Testing

Short Name: HYDIN Targeted

Primary ciliary dyskinesia is an autosomal recessive disorder caused by a pathogenic variant in the HYDIN gene. It is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airway. Patients affected by the condition have recurrent sinus, ear, airway, and lung infections. The c.2047G>T (p.Glu683*) variant in the HYDIN gene has been reported in Amish populations and is specifically analyzed in this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 608647
MedGen: 324840