Members

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

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