EDDNAL Laboratory registration form

EDDNAL Laboratory Registration form

Please complete this page, should your laboratory be engaged in research.

Person completing this form

Name of Laboratory
Name of Institution
Head of the Laboratory
Degree(s):
Field/Speciality
Email
Phone
Fax
Complete Mailing Address
Lab URL (if lab has a web site)
Is your laboratory certified by an official organisation in your country that allows you to perform mutation analysis?	YES NO
If YES, by which one?

III

1. Disease Name(s)/Abbreviation(s):
Gene(s)/Locus(i):
OMIM#
2. Please give a brief description of your research
3. Citations relevant to your laboratory's research on this disease: (MUST include first author last name/initials, full journal name, volume, page, year)
4. Would you be interested in receiving DNA samples from patients affected with this (these) disease(s) on a research basis?	YES NO

EDDNAL Disease Registration form

1. Disease Name/Abbreviation
2. Gene(s)/Locus(I)
3. OMIM#
4. Synonyms (optional)
5. Contact person for this disease

1. Type of diagnosis:	Symptomatic
	Presymptomatic
	Asymptomatic carrier status
	Prenatal
2. Material needed	RNA
	DNA
	Other (please specify):
3. Methodology:
A. Direct Testing	PCR-SSCP
	PCR-DGGE
	PCR-RFLP
	DHPLC
	PTT
	Southern blotting
	Sequencing: automated / manual
	Panel of mutations (Number)
	Commercial kit - name
	Homemade technique
	FISH analysis
	Other:
B. Indirect Testing	Intragenic
	Extragenic
C. Other methods	Methylation
	Protein truncation test
	Uniparental disomy
	Other:

III Additional information

1. Target report time	weeks
2. Do you accept samples from foreign countries?	YES NO
If YES :
� What is the price of this service	€
� Would you perform this analysis for free in special circumstances (developing countries, scientific interest,)?	YES NO
� Do you need clinical and/or genetic information before performing this test?	YES NO
� Do you need a preliminary agreement on reimbursement and clinical relevance before samples are sent?	YES NO
� Additional comments/other sample requirements

IV Experience

1. Number of tests performed since 1996 for this disorder	Symptomatic
	Asymptomatic carrier status
	Presymptomatic
	Prenatal
2. Number of positive tests for this disorder	Symptomatic
	Asymptomatic carrier status
	Presymptomatic
	Prenatal
3. Do you offer genetic counselling for this disorder	YES NO

V Quality Assessment

1. Are you certified by a quality assessment association for this analysis?	YES NO
If YES, please give the name

VI Research

1. Please give a brief description of your research:
2. Citations relevant to your laboratory's research on this disease: (MUST include first author last name/initials, full journal name, volume, page, year
3. Would you be interested in receiving DNA samples from patients affected with this diseases on a research basis?	YES NO

� EDDNAL 2020