PKDeep
APHP GHU H. Mondor
Institutional data
Institution: APHP GHU H. Mondor
Country: France
Website: filiere-mcgre.fr/
Department: Unité des Maladies Génétiques du Globule Rouge. Médecine Interne
Website: filiere-mcgre.fr/
Department e-mail: sonia.pavan@aphp.fr
Department phone: 0033 1 49 81 24 43
Contact persons: Frédéric Galactéros, Nathalie Tavoletta
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Pediatrics, Adults
Diagnostic methodologies: Biochemical / Phenotyping, Genetics
Department: Genetique and Biochemistry
Website: filiere-mcgre.fr/
Department e-mail: secretariat.umggr@aphp.fr
Department phone: + 33 1 49 81 4440
Contact persons: Serge Pissard, Stephane Moutereau
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
2019
Total number of PKD patients in follow-up: 80
2018
Total number of PKD patients in follow-up: 80
2017
Total number of PKD patients in follow-up: 75
Number of PKD pediatric patients (<18 years): 20
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 150
Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)
Turn-around-time?: 3 working days
Other RBC enzyme activity assays you performed: Acetylcholinesterase, Adenosine deaminase, Adenylate kinase, Aldolase, Bisphosphoglycerate mutase, NADH-cytochrome b5 reductase, Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Gluthathione reductase, Hexokinase, Phosphofructokinase, Phosphoglycerate kinase, Pyrimidine-5’-nucleotidase, Triosephosphate isomerase
Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980).
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: Sanger, NGS
Turn-around-time?: 2 months
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes