Disorders

Aplastic Anemia, TERT-Related

Gene	Locus	Protein
TERT	5p15.33	Telomerase reverse transcriptase

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA	• Sequence analysis of the entire coding region

^* 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.