Office for People With Developmental Disabilities

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Molecular Diagnostic Laboratory

07/11/12

Sally Nolin, Ph.D., Head

[email protected]
718-494-5293

The Fragile X Laboratory provides molecular analysis of the fragile X gene FMR1 by PCR and Southern analysis in conjunction with IBR’s Specialty Clinical Laboratories.  We have performed more than 3,000 fragile X prenatal studies of chorionic villi (CVS) and amniotic fluid (AF).  We also provide diagnostic laboratory services for women screened for fragile X carrier status and for individuals with developmental disabilities.

Fragile X syndrome is a common cause of inherited mental retardation caused by the expansion of a CGG repeat in the 5’ untranslated region of the FMR1 gene.  While the repeat is stable in the general population, the repeat size increases dramatically in families with Fragile X syndrome.  Our research is targeted at identifying factors that contribute to repeat instability within families.

Specimen Submission Process

To arrange to refer a specimen to the Molecular Diagnostic Laboratory, please follow these instructions: Fragile X Lab - Intake Procedures for Prenatal Diagnosis (PDF)

All specimens should be shipped to:

Molecular Diagnostic Laboratory
Department of Human Genetics
Institute for Basic Research
1050 Forest Hill Road
Staten Island, NY 10314

Please telephone Dr. Sally Nolin with any questions
718-494-5293

Billing

Please see requisition form.

Requisition Form

Requisition Form -- Fragile X Molecular Analysis (PDF)

This form may be filled out online or by hand.  After the form is completed, including signatures, please enclose it in the package with the specimen you submit to the Molecular Diagnostic Laboratory.