Genetic diagnosis

The laboratory coordinates the rare disease network for the diagnosis in molecular genetic
of these diseases (GenMAI) (complex analysis,level 2), and the international quality control (EMQN).

Specialized consultations (CeRéMAI)

Genetic diagnosis
Diagnoses routinely available
Terms
Results

Specialized consultations

Phycisian: Pr Isabelle Touitou

Indications:
• Genetic counseling
• Sampling for molecular diagnosis
• Referral to a specialist

Terms:
• Call +33 4 67 33 58 57 for an appointment
• Consultations are held twice per month in the medical genetics department of Prof. Sarda (Arnaud de Villeneuve Hospital, 1st floor)
• You must:
• Come with a letter from your referring physician and the results of previous tests you have
• Register at the ground floor

Genetic diagnosis

Diagnoses routinely available

Hereditary recurrent fevers: Before any request
+++ Prerequisites have been defined by the auto-inflammatory diseases diagnosis network and corresponding reference centers.
They are mandatory for the request to be considered..
Prerequisites Required

• FMF: familial mediterranean fever (periodic disease) - MEFV gene
• MKD: mevalonate kinase deficiency (hyper-IgD syndrome and mevalonic aciduria) - MVK gene
• TRAPS: associated periodic syndrome TNF receptor - TNFRSF1A gene
• CAPS: receptor-associated periodic syndrome of cryopyrin ( Cold urticaria familia, Muckle-Wells, CINCA) - NLRP3 (CIAS1...) gene
• NAPS12:  NLRP12-associated periodic syndrome - NLRP12 (NALP12...) gene

• PAPA: Pyogenic arthritis with pyoderma gangrenosum and acne - PSTPIP1 gene
• BLAU syndrome - NOD2 (CARD15) gene
• Majeed syndrome - LPIN2 gene
• Recurrent and familial forms unexplained of reproductive abnormalities - NLRP7 (NALP7...) gene
• DIRA: Deficit receptor antagonist to interleukin-1 - IL1RN gene

Terms

The request
• It must emanate from the doctor who will receive the result.
• Thank you to target your request and limit the number of genes to analyze.
• The tests are not performed on asymptomatic individuals except in special cases agreed beforehand with the service (phasing mutations in the case of recessive disorders, parental origin of the mutation in the case of dominant diseases).

Sending Samples
• The tubes must be sent early week to avoid delays of the weekend
• Warn us preferably by e-mail or by mail the day of shipment to ensure optimal tracking.
• Protocol for sampling and shipping

Necessary forms: In the absence of these documents, we regret we will not be able to perform the analysis.
• Informed consent. Because of French laws, it is imperative to have each sampled individual signed an informed consent.
• Clinical form: All diseases except Reproductive abnormalities : to fill by the prescriber physician.
• Billing certificate : a headed certificate of your administration must be attached for each gene requested.

Analysis Costs:
This new listing follows the v4 : pdf

Results

• They can be sent only to the prescriber physician.
• The average turn over is one to two months after receipt of samples for routine analysis.
• It can be significantly lengthened in case of technical problems or rare mutations.
• In the current state of knowledge it is not always possible to give an assistance to the diagnosis.
• The test should never be considered a diagnosis of exclusion.
• In the absence of genetic confirmation, treatment should not necessarily be stopped if it has already been established.