Disorders

Epilepsy, Juvenile Absence, Susceptibility to, 1

Synonym(s): EJA1

Gene	Locus	Protein
EFHC1	6p12.3	EF-hand domain-containing protein 1

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.