Services:

• Friedreich ataxia
• Fusion gene quantitation for disease monitoring in leukemias
• Oncogene mutation analysis in solid tumors as companion diagnostics for targeted molecular therapies
• DNA fingerprinting for determination of paternity, twin zygosity and surgical specimen identity
• Detection of clonal immunoglobulin and T-cell receptor gene rearrangements in lymphomas and leukemias
• Differentiation of donor from recipient cells after bone marrow or organ transplant by DNA polymorphisms

Orphan Diseases:

Dedicated to disorders too rare to be of interest to general reference laboratories, we offer a way to transfer both the regulatory and workload burdens from the research setting to a licensed clinical laboratory.

• We provide validated confirmation of mutations identified in research laboratories which can then be reported directly to physicians and patients who request such information for clinical decision-making. This service will be especially beneficial for individuals and families who have been identified as mutation carriers by a research laboratory.
• We will confirm mutations in a fresh sample (blood, saliva, or cheek swab) from the proband or other known carriers, such as the parents. After a mutation is confirmed, diagnostic, prenatal, and carrier testing is available for other at-risk family members.

DNA Repair Disorders:

Mutation detection, carrier testing and prenatal diagnosis

• Western Blot for DNA Repair Protein Expression
• Ataxia Telangiectasia, A-T (ATM)
• Nijmegen Breakage Syndrome (NBN)
• A-T-like Disorder (MRE11)
• NBS-like Disorder (RAD-50)
• Fanconi Anemia (FANC D1, A, B, C, E, F, G, L and M)
• Radiation Sensitivity/Colony Survival Assay
• Rapid Functional Flow Cytometry SMC1 Assay for Ataxia Telangiectasia (A-T) proband and carrier screening

Prenatal Evaluation:

We offer prenatal testing for known familial variants in any gene

• Assessment of maternal cell contamination
• Comparison to parental/familial controls
• Analysis of single base changes as well as some microdeletions previously confirmed in a parent by sequencing
• Communication with referring physician or genetic counselor

A complete menu of testing for a growing variety of genetic and neoplastic diseases is available upon request.

In addition to our many clinical services, we maintain an active role in basic and applied clinical research.