The Comprehensive Center for Fanconi Anemia & The Cytogenetic Facility

Mutational Analysis

Mutational screening is currently the only available method of determining whether someone is a carrier for the Fanconi anemia gene. This test involves sequencing the DNA of the gene of interest. DNA is comprised of four "building blocks" or nucleotides whose sequence encodes the genetic information.

Since there are at least 13 different Fanconi genes, it is important to know that patient's Fanconi subtype to identify the involved gene. In certain cases, specific mutations responsible for Fanconi anemia have been identified. If the mutations carried by a given patient have not been previously identified, the identification of the mutations responsible for Fanconi anemia can require sequencing analysis of the patient as well as several family members and may also entail assays for gene function. Since the Fanconi anemia genes can be quite large, this process is generally time-consuming and expensive. The sequencing analyses must be performed in a clinically certified laboratory if the information is to be used for clinical purposes.

For logistical reasons, our center is not currently able to offer mutational analysis on a routine basis. We hope to extend our services to include mutational analyses in the near future. For any questions, contact:

Dr. Alan D'Andrea, Director
Comprehensive Center for Fanconi Anemia
Dana-Farber Cancer Institute