PGx eliglustat

Synonyms: Eliglustat, Cerdelga, CYP2D6, CYP2D6 metaboliser status

Material:

EDTA blood
(1 ml), buccal swab

TAT:

2 weeks

Method:

NGS

Overview

Eliglustat is a substrate-reduction therapy for . The CYP2D6 metaboliser status forms part of the authorised indication itself. The EU indication covers adults who are poor, intermediate or extensive metabolisers, and separately children from six years of age weighing at least 15 kg who are stabilised on enzyme replacement therapy and fall into the same three classes; the US indication covers adults only. Genotyping before treatment is therefore mandatory, and this analysis reports the patient’s constitutional CYP2D6 metaboliser status.

PGx eliglustat

1 Gene(s)*

CYP2D6

Pharmacological background

Tested variants

Result interpretation

Test limitations

Clinical relevance

Indication	ICD-10	Gene	OMIM
Drug intolerance	T88.7	CYP2D6	124030
Therapy resistance	T88.7	CYP2D6	124030

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last content review: August 4, 2026. As pharmacogenomic evidence and recommendations continue to evolve, the information presented on this page may not always reflect the latest updates. For current guidance and annotations, please refer to .

Last Update : 24.09.2026

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

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