GENETIC SCREENING SERVICE FOR AMERICAN FAMILIES

Reasons for Referral
Methodology
Price
Time for Analysis
Contact Information

X-Linked Ocular Albinism
Baylor College of Medicine • Diagnostic Sequencing Laboratory

The Vision of Children Foundation is pleased to announce that the Laboratorio Biologia Molecolare Clinica in Milan, Italy is now providing a genetic screening service for European families afflicted or potentially afflicted with Ocular Albinism.

This test, which uses a blood sample to determine the presence of the OA1 gene that causes most cases of Ocular Albinism, can determine whether a family is at risk of transmitting the gene to children, confirming difficult-to-diagnose cases, and provide pre-natal diagnosis (PND).

Below is the contact information and details for Europeans interested in screening:

OA1 MUTATION TESTING (OSPEDALE SAN RAFFAELE)

REASONS FOR REFERRAL

Carrier identification in families at risk
Confirmation of diagnosis of affected individuals
Prenatal Diagnosis (PND)

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METHODOLOGY

Direct DNA analysis is performed on the coding region on 9 exons of the OA1 gene using PCR amplification in combination with DG-DGGE and direct sequencing on both DNA strands.

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PRICE

Full screening: $550/sample
Known mutations: $110/sample

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TIME FOR ANALYSIS

POSTNATAL
Full screening: 1 month
Known mutations: 10 days

PRENATAL
Full screening: 15 days
Known mutations: 7 days

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CONTACT INFORMATION

LABORATORY ADDRESS
Laboratorio Biologia Molecolare Clinica
IRCCS H San Raffaele
Via Olgettina, 60
20132 Milano
tel +39 02 26432617
tel +39 02 26434759
fax+39 02 26432640

CONTACT

Director: Dr. Maurizio Ferrari (ferrari.Maurizio@hsr.it)
Research Assistant: Dr. Paola Carrera (carrera.paola@hsr.it)

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