PKDeep

CHU de Montpellier

Institutional data

Institution: CHU de Montpellier

Country: France

Website: https://www.chu-montpellier.fr/fr/


Department: Hematological Biology

Website: https://www.chu-montpellier.fr/fr/offre-de-soins/services/hematologie-biologique-222

Department e-mail: labo-hemato@chu-montpellier.fr

Department phone: (33) 4 6733 70 31

Contact persons: Patricia Aguilar Martinez, Navarro Robert

Department activity: Clinical management, Diagnostic

Type of patients in Follow-up: Pediatrics, Adults

Diagnostic methodologies: Biochemical / Phenotyping, Genetics

Institution's activity

2022


2021


2020

Total number of PKD patients in follow-up: 7

Number of PKD pediatric patients (<18 years): 1

NNumber of PKD pediatric patients with genetic analysis performed: 1

Number of PKD pediatric patients with genetic analysis performed: 1

Number of PKD adult patients (≥ 18 years): 6

Number of PKD patients adults with genetic analysis performed: 6


2019

Total number of PKD patients in follow-up: 4


2018

Total number of PKD patients in follow-up: 4


2017


PKD diagnosis: services offered

Perform PK enzyme activity assay: No

Method used to perform PK activity assay?:

Externalize PK activity quantitative assay: Yes


Perform PKLR genetic characterization: Yes

Method used for PKLR genetic characterization: NGS

Turn-around-time?: 1 or 2 months, depending on the slot where the sample it is included.


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: No