Download Genotyping Questionnaire This is the Eunefron Questionnaire for the

Genotyping Questionnaire
This is the Eunefron Questionnaire for the genetic tests performed at the Genetic Department of the
European Georges Pompidou Hospital in Paris. This questionnaire is for:
Pseudohypoaldosteronism Type 1.(PHA1)
Dear colleague,
We perform genetic analysis in PHA1 patients, either of the NR3C2 gene (coding for the mineralocorticoid
receptor) in renal PHA1, or the genes coding for the subunits of the sodium channel ENaC, in generalized PHA1.
You can send a blood sample (2 x 5 ml in two different tubes on EDTA for adults, 2 x 2 ml for children, 1 x 0.5 ml
for newborns) of your patient and the family members for DNA analysis to the laboratory address indicated
below. Shipping can be performed at room temperature, but should be done by FedEx or equivalent, at the
beginning of the week, in order to reduce the shipping time. Alternatively, you can send DNA. Please notify our
laboratory at the time of the sending.
We also need clinical and biological information to address the analysis towards a renal form or a generalized
form. Please find attached a clinical and biological data form that should be completed and sent together with the
samples.
There are some documents which are absolutely needed for the analysis:
-An informed consent for all subjects
-A purchase order from your department
The cost for this analysis is (per gene):
~ 300 € for a primary test
~ 100 € for a secondary test (confirmation testing and test of family members)
Please do not hesitate to contact me if you need further informations.
Sincerely,
Dr. Maria-Christina Zennaro
Please send samples to:
Laboratoire de Génétique - 2e étage -secteur A
Hôpital Européen Georges Pompidou
20-40 rue Leblanc 75908 Paris Cedex 15
Tel 33 1 56 09 38 81 ou 38 40
Fax 33 1 56 09 38 84
INFORMED CONSENT FOR GENETIC TEST
(Act n° 2008-321 of 4 April 2008)
A document of this type must accompany the prescription and clinical information which are necessary for each
genetic study.
Patient information
Last Name :
Date of Birth :
Address :
First Name :
If the patient is less than 18 years of age, information on
the person who exerts the parental authority (or legally
authorized representative)
Last Name :
First Name :
CONSENT
My signature below indicates that Doctor ……………………………………………………… has given me all of the
information concerning the genetic studies, that will be performed for diagnosis and/or research, from (chose
one) :
The sample which was carried out on me
for genetic diagnosis
The sample which was carried out on my minor child
for genetic research
For :
Genetic predisposition to :
I give my consent for this sample and I admit to having received the entire information in agreement with the
R.1131-4 article of the act n°2008-321 of 4th April 2008 from the French public health code which are necessary
to understand the finality of this study
At …………………………………….., the ………………………………………
Signature
ATTESTATION
I certify that I have informed the patient named above, about the Signature and stamp
characteristics of the tested disease, the ways of diagnosing it,
the possible prevention and treatment methods, and to having
informed him/her about the consent form under the conditions of
the article n°R.1131-4
REMINDER CONCERNING THE FRENCH LAW
(in accordance with the act n°2008-321 of 4th April that states the conditions of prescription and the performance
of individual genetic exams)
The medical prescriber must conserve the written agreement, a copy of the prescription and the attestation, and
the summary of the results of biological analysis with both commentary and signature (Art. R.1131-20).
The authorised laboratory carrying out the exams must:
Have the prescription and the attestation from the medical prescriber (Art. R. 1131-20).
Send the results of biological analysis with a commentary and signature of the authorised practitioner in
agreement with the Art. R.145-15-6, EXCLUSIVELY TO THE MEDICAL PRESCRIBER of genetic studies (Art. R.
1131-19)
Questionnaire for genetic study orientation – Pseudohypoaldosteronism type 1 (PHA1)
Prescribing practitioner ……………..………..……………...……...
Department ….……………………………………………...….…….
PATIENT LAST NAME...........………….…………………………
First Name…..……………………….…………………………...…
Sex (M or F)
|__|
Birth date
|__|__|__|__|__|__|__|__|
Place of birth...……………………………………………………...
Ethnicity (1 = Caucasian - 2 = Africa - 3 = Asia)
|__|
1- BIRTH HISTORY
Mother age at birth
|__|__| ys
Father age at birth
|__|__| ys
Mother parity ………………………………………………………
Length of gestation: |__|__| weeks of amenorrhea
Complications during pregnancy ………………………………
………………………………………………………………………Hydramnios (Y/N) |__|
Birth weight
|__|__||__| g
Birth size
|__|__||__| cm
HC
|__|__||__| cm
APGAR (1min/5min)
|__|/|__|
Other diseases (Y/N)
|__|
If yes, please indicate…………………………………………………...
...……………………………………………………..............................
2- PHA1 HISTORY
Personal
Disease (tick appropriate) renal PHA1 |__| generalized PHA1 |__|
Age at beginning of symptoms
|__|__| days
Weight |__|__||__| kg
Size
|__|__||__| cm
Symptoms
Dehydration |__| vomiting |__| failure to thrive |__| convulsions |__|
Hypotonia |__| polyuria |__|
Other symptoms |__|, please specify……………………………….
Hyperkalemia |__| hyponatremia |__| hyperaldosteronemia |__|
hyperreninemia |__| metabolic acidosis |__| hypercalciuria |__|
nephrocalcinosis |__|
Familial
Parental consanguinity (Y/N)
|__|
Familial history of PHA1 (Y/N)
|__|
(if yes, please add a pedigree with the affected relatives indicated)
Father age |__|__| ys
PRA (ng/ml/h) or Renin (pg/ml)
supine |__|__|__| upright |__|__|__|
Plasma aldosterone (pmol/L)
supine |__|__|__| upright |__|__|__|
Mother age |__|__| ys
PRA (ng/ml/h) or Renin (pg/ml)
supine |__|__|__| upright |__|__|__|
Plasma aldosterone (pmol/L)
supine |__|__|__| upright |__|__|__|
3- CLINICAL EXAMINATION
Date of examination…………………………..…………...........……….
Weight |__|__||__| kg
Size
|__|__||__| cm
HC
|__|__||__| cm
Symptoms………………………………
Blood pressure (systolic/diastolic, mmHg) |__|/|__|
Renal morphology (Normal/Abnormal/ND) |__|
Comments: …………………………………….………………….
External genitalia (Normal/Abnormal)
|__|
Comments: …………………………………….………………….
Urinary infection (Y/N)
|__|
Sweat test (Y/N) |__|, results: ……………………………………
4 – STANDARD BIOLOGICAL EXAMINATION
Date of examination: …………………………..…………….……...........
Plasma
Na (mmol/l) |__|__|__|
K (mmol/l) |__|,__|
Creatinine (µmol/l) |__|__|__|
HCO3 (mmol/L) |__|__|__|
Ca (mmol/L) |__|__|__|
Cl (mmol/L) |__|__|__|
Phosphate (mmol/L) |__|__|__|
pH |__|__|__|
24h Urines
urinary vol: ……………. ml
Na (mmol/l) |__|__|__| Na 24h (mmol) |__|__|__|
K (mmol/l) |__|__|__|
K 24h (mmol) |__|__|__|
Cl (mmol/l) |__|__|__|
Cl 24h (mmol) |__|__|__|
Creatinine (mmol/l) |__|__|
Creatinine 24h (mmol) |__|__|__|
5 – HORMONAL MEASUREMENTS
Date of examination: …………………………..…………….……..........
PRA (ng/ml/h) or Renin (pg/ml)
supine |__|__|__| upright |__|__|__|
Plasma aldosterone (pmol/L)
supine |__|__|__| upright |__|__|__|
Plasma cortisol (nmol/L) |__|__|__|
17OH-Prog (nmol/L)
|__|__|__|
Ur Aldosterone 24h (nmol) |__|__|__|
Ur Cortisol 24h (nmol)
|__|__|__|
6- CURRENT TREATMENT
NaCl (Y/N) |__| dose ……………………………………………….
NaHCO3- (Y/N) |__| dose.........………………………………….............
Ion exchange resins (Y/N) |__| dose…………………………...............
Corticoids (Y/N) |__| dose …....................…………………………........
Others (Y/N) |__| please specify.........................……………….....……..
R.V-P/06