Fanconi Anemia Complementation Analysis Available
The CAP/CLIA Accredited Translational Trials Development and Support Laboratory of
the Division of Experimental Hematology at the Cincinnati Children’s Hospital Medical
Center has received an NIH award to supplement the cost of testing for Fanconi Anemia
Complementation Groups. The complementation assay testing for the most common
complementation groups A,C,G is available to clinicians and researchers for the cost of
$536 per sample (complementation analysis) plus $155 or $364 for preparation of cell
lines, if needed, for testing from either peripheral blood (EBV transformed
lymphoblastoid cell lines – LCLs) or skin biopsies (fibroblast cell lines). Additional
testing by western blot and testing for rare complementation groups are offered for an
additional fee, as listed below. Higher charges apply for samples submitted after
December 2008. Contact Elke Grassman (elke.grassman@cchmc.org, 513-636-0958), Dr.
Jose Cancelas (jose.cancelas@cchmc.org) or Dr. David Williams
(DAWilliams@childrens.harvard.edu) for more information or to schedule testing.
The Fanconi anemia (FA) Complementation assay allows reliable determination of FA
complementation in patients with confirmed FA diagnosis by DEB or MMC for clinical and
laboratory purposes using retroviral gene transfer correction of melphalan-induced cell cycle
arrest (see Chandra et al. Molecular Therapy, 2005). The service is partially funded through an
NIH Grant (R01HL081499-01A DAWilliams, PI) and is available to clinicians and researchers at
a subsidized rate of $536 per sample plus the cost for establishing cell lines from peripheral
blood or skin biopsies, if necessary. The assay is CAP/CLIA-compliant and SOP-driven,
allowing use of the data in a clinical setting and for clinical trial enrollment decisions. It also
facilitates targeted sequencing for mutation analysis. Instructions are also provided for
participation in the International Fanconi Anemia Registry (IFAR), which facilitates subsequent
mutation identification, also in a CLIA-compliant laboratory. For patients entering the IFAR, no
charges are incurred for cell line derivation, complementation or mutation determination.
The FA Complementation assay is an efficient method for the identification of specific
complementation groups by exploiting the characteristic of FA cells to undergo arrest in the
G2/M phase of cell cycle in response to DNA damaging agents. Retroviral vector
complementation is currently available for FANCA, FANCC, FANCG, FANCE, FANCF, FANCL
and FANCB (these complementation groups represent greater than 90% of the FA patients in
the US). Complementation tests for FANCI, FANCM and FANCJ are under development. A
complementation group is identified when correction of the melphalan-induced G2/M arrest
occurs after transduction with a specific retrovirus vector.
To provide timely and cost efficient service, our initial screening will test for FA groups A, C, and
G, which represent ~85% of all patients in North America. If no complementation occurs with
groups A, C and G, a FANCD2 western blot is indicated to determine if there is a defect
“upstream” or “downstream” of the FANCD2 modification. This assay is also CAP/CLIA
compliant and will be performed on request for an additional fee of $343. If the FANCD2
western blot indicates a upstream defect, we recommend complementation testing for groups E,
F and L. Male patients will also be tested at this stage for complementation with the X-linked
FANCB. Including the establishment of cell lines, the A,C,G complementation assay will require
2 to 4 months. Upon receipt of the patient’s informed consent, established cell lines will be
deposited in the FA Cell Repository at CCHMC for future research purposes, and will be
provided to any researcher with IRB-approved protocols in a HIPPA-sensitive fashion. The
Fanconi repository consent form will be provided by TTDSL on request.
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Pricing Details
Service
Fanconi Anemia Complementation: A,C,G
complementation groups
FANCD2 Western Blot
Fanconi Anemia Complementation: E,F,L
complementation groups
(also B complementation if patient is male)
Cell Line: EBV transformed lymphocytes
Cell Line: Fibroblasts from skin biopsy
Unsubsidized
cost
Subsidized Charge to
clinician/researcher
$1072
$536
$343
$343
$1072
$536
$155
$364
$155
$364
Higher Charges apply for samples submitted after Dec 2008.
Results are reported after completion of each level of assays (i.e. after A, C, G, then after D2, if
requested etc). The results are provided to the requesting physician.
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