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
2024
2023
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