Disorders

Bronchiectasis with or without Elevated Sweat Chloride 2

Synonym(s): Cystic Fibrosis-Like Syndrome

Gene	Locus	Protein
SCNN1A	12p13	Amiloride-sensitive sodium channel subunit alpha

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.