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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?

II

Contact Name 1
Degree(s)
Field/Speciality
Email
Phone
Fax
Contact Name 2
Degree(s)
Field/Speciality
Email
Phone
Fax

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

I

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

II

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 2016