places where genetics testing can be done (2 in USA; 2 in Europe)

[Guest guest]

Hi

As a result of my research with

the doctors at Emory – one of them has very kindly sent a list of places

that carries out the type of testing that is appropriate for BPES, and other syndromes

with the same features of BPES.

Please take a look below.

The first two are in the USA, the

second two are in Europe (Belgium and Germany).

I hope that this helps people. It

looks like you need to ask your doctor or your paediatric ophthalmologist to get

you referred to these places.

Shireen Mohandes

London, England

Children's

Hospital of Philadelphia

Molecular Genetics Laboratory, Philadelphia, PA

Methods: Analysis of the entire coding region: sequence analysis; Deletion/duplication

analysis

Additional testing offered: Prenatal diagnosis

Contact: A Stolle, PhD

email: mailto:stolle@...

phone: (215) 590-8736 fax: (215)

590-2156

Laboratory can only accept contact from health care providers.

Patients/families are encouraged to discuss genetic testing options with their

health care provider.

Signature Genomic

Laboratories

Spokane, WA

Methods: FISH-metaphase. Additional testing

offered: Prenatal diagnosis

Genetic Counsellor: e Coppinger, MS

US Genetic Board Certification: American Board of Genetic Counseling (Genetic

Counselor)

email: counselors@... phone: (509) 474-6840fax: (509) 474-6839

Genetic Counselor: Alliman, MS

Genetic Counselor: Mindy Preston, MS

Genetic Counselor: Anne M Bandholz, MS

Laboratory can only accept contact from health care providers.

Patients/families are encouraged to discuss genetic testing options with their

health care provider.

University Hospital Ghent

Molecular Genetics Laboratory (click here to go to Laboratory Web site)

Ghent, Belgium

Methods:

Analysis of the entire coding region: sequence analysis; Deletion/duplication

analysis

Additional testing offered: Prenatal diagnosis

Comments: Applicants are asked to complete a clinical checklist provided by the

lab

Contact: Elfride De Baere, MD, PhD

email: Elfride.DeBaere@... phone: (+32) 93323603fax: (+32) 93324970

Pre-test email/phone consultation regarding genetic test utilization and

decision making is provided to patients/families.

Post-test email/phone consultation regarding genetic test results and

interpretation is provided to patients/families.

Unversitatsklinikum Charite

Institute of Medical Genetics (click here to go to Laboratory Web site)

Berlin, Germany

Methods: Analysis of the entire coding region: sequence analysis;

Deletion/duplication analysis

Comments: Repeat expansion testing and MLPA analysis for deletion/duplication

testing are included

Contact: Dr Hartmut s

email: hartmut.peters@...: (+49) 30450569124fax: (+49) 30450569915

Genetic Counselor: Horn, PD Dr

email: denise.horn@...e

Laboratory can only accept contact from

health care providers. Patients/families are encouraged to discuss genetic testing

options with their health care provider.