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Molecular Diagnostic Center

Directors: Press, Richard D., M.D., Ph.D.; Richards, Carolyn Sue, PhD

Summary:

The OHSU Molecular Diagnostic Center provides DNA based testing for diagnosis, carrier detection, and prenatal diagnosis of many genetic diseases. All current molecular genetic technologies including Southern blotting, polymerase chain reaction (PCR), denaturing high performance liquid chromatography (DHPLC) and DNA sequencing techniques are utilized. These accurate tests are reasonable in cost and require only a blood sample, therefore offering many advantages in the evaluation of patients requiring any of the above. All tests are performed using stringent clinical protocols, assuring prompt turnaround of results. All reports include quantitative predictions of risk based on DNA data and other clinical findings. A board certified clinical molecular geneticist and a board certified clinical medical geneticist report abnormal results directly to the referring physician and discuss interpretation. Immediate final reports are communicated by telephone or FAX transmission.

Affiliations:

People:

Resources:

Services

  • ABL sequencing ( Material analysis service )

  • Angelman syndrome (methylation) DNA test ( Material analysis service )

  • BCR-ABL RNA quantitative PCR service ( Material analysis service )

  • Bone marrow transplant engraftment testing ( Material analysis service )

  • CMV qualitative, amniotic fluid test ( Material analysis service )

  • CMV qualitative, BAL test ( Material analysis service )

  • CMV qualitative, CSF test ( Material analysis service )

  • CPT1A test ( Material analysis service )

  • Cystic fibrosis DNA analysis ( Material analysis service )

  • Cytomegalovirus DNA quantitative PCR ( Material analysis service )

  • DNA custom sequencing ( Material analysis service )

  • DNA storage ( Storage service )

    "Purifed high molecular weight DNA for storage. DNA storage is applicable in situations where a confirmed or suspected genetic condition is evident and the possibility of future testing will be critically dependent on the analysis of specific samples. This procedure is particularly important in cases where an affected individual may be medically unstable."

  • Duchenne/Becker muscular dystrophy DNA diagnostic carrier testing ( Material analysis service )

    Testing for both male proband and female carrier.

  • Duchenne/Becker muscular dystrophy DNA diagnostic testing for (obligate) female carriers or affected females ( Material analysis service )

    "Applicable in cases where evaluation of an affected male is not possible. These situations include: 1) a symptomatic carrier female; 2) an obligate female carrier to define the mutation within a family; 3) a female at risk to be a carrier in the absence of an affected male. Genetic counseling is strongly recommended for any family with a history of DMD/BMD. Consultation with the laboratory is preferred before drawing samples."

  • Epstein-Barr virus by quantitative PCR ( Material analysis service )

  • Factor V mutation analysis ( Material analysis service )

  • Fanconi Anemia A test ( Material analysis service )

  • Fanconi Anemia C test ( Material analysis service )

  • Fanconi Anemia F test ( Material analysis service )

  • Fanconi Anemia G test ( Material analysis service )

  • FLT3: AML mutation testing ( Material analysis service )

    "Kinase activating mutations of the FLT3 gene occur in a significant subset of acute myelogenous leukemias (AMLs) and confer a poor prognosis. The most common mutation (and the one detected in our lab) is an internal tandem duplication (ITDs) in exon 11 of the FLT3 gene (juxtamembrane domain), present in ~20-30% of all AMLs. If present, novel targeted therapies directed at this activated tyrosine kinase may be of clinical benefit." "Specimen: ACD or EDTA whole blood; Bone marrow (fresh, unfixed)

    Handling: Transport at room temperature to arrive at the Molecular Diagnostic Center within 24 hours; if sample cannot arrive within 24 hours, refrigerate until sample can be transported, then transport at room temperature.

    Special Requirement: In order to detect FLT3 mutations, acceptable specimens of blood or bone marrow must have a minimum of 20% blast cells. Samples with less than 20% blasts will not be analyzed. A copy of the CBC w/diff or a Hematopathology report showing blast cell load would be ideal." "Other terms:
    AML: acute myelogenous leukemias PCR-based study Tyrosine kinase gene Exon 11 of the FLT3 gene Juxtamenbrane domaine" "Synonyms: FLT, FLT3, AML mutation, ITD (internal tandem duplications) mutation, FLT3 mutation"

  • Fragile X syndrome DNA diagnostic testing ( Material analysis service )

  • Frax E mental retardation syndrome test ( Material analysis service )

  • Hemochromatosis DNA mutation (HLA-H PCR) test ( Material analysis service )

    "Direct DNA-based detection by PCR of a common mutation in the HLA-H gene that causes hereditary hemochromatosis, a common iron overload disorder. C282Y heterozygotes are reflexed to H63D for additional charge."

  • Hepatitis C genotyping, serum test ( Material analysis service )

  • Hepatitis C RNA, quantitative, serum test ( Material analysis service )

    "Quantitative determination of the amount of Hepatitis C virus RNA."

  • HIV-1 viral load, quantitative test ( Material analysis service )

  • Huntington disease direct mutation DNA diagnostic test ( Material analysis service )

  • Infantile neuroaxonal dystrophy (INAD) test ( Material analysis service )

  • JAK2 test ( Material analysis service )

    "PCR-based testing to detect an acquired single point mutation (Val 617 Phe) in the JAK2 kinase auto-inhibitory domain. The presence of the point mutation has been associated with different myeloproliferative diseases including polycythemia vera (PV), essential thrombocythemia (ET) and ideopathic myelofibrosis (IMF)."

  • Kit gene mutation for GI stromal tumors (GISTs) test ( Material analysis service )

  • Maternal cell contamination testing ( Material analysis service )

    "PCR based testing of the fetal specimen to detect the presence of contaminating maternal DNA. The sensitivity of the assay could detect approximately 5% maternal material in the fetal specimen. Maternal contamination studies are performed as confirmatory tests for genetic diease testing of fetal material."

  • MELAS analysis ( Material analysis service )

    "Two point mutations can be identified by this PCR test, one at nucleotide 3243 and one at nucleotide 3271."

  • MERRF analysis ( Material analysis service )

    "Two point mutations can be identified by this MERRF test, one at nucleotide 8344 and one at nucleotide 8356."

  • Microsatellite instability with immunohistochemistry (MSI and IHC) ( Material analysis service )

  • Mitochondrial DNA deletion/duplication test ( Material analysis service )

  • Mitochondrial DNA point mutation test ( Material analysis service )

    "Includes: MELAS, MERRF, and/or NARP analysis."

  • MTHFR mutation analysis ( Material analysis service )

    "Direct detection (by PCR) of a common thermolabile variant of the MTHFR gene at nucleotide 677. The mutation in the gene predisposes to increased homocysteine levels and vascular disease."

  • Myotonic dystrophy 1 DNA diagnostic test ( Material analysis service )

    "Testing is diagnostic for normal/disease states with > 99% accuracy. Myotonic dystrophy 1 is the most common form of inherited adult-onset muscular dystrophy. Affected females are at risk for offspring with congenital myotonic dystrophy, characterized by severe hypotonia at birth and learning disabilities or mental retardation."

  • NARP analysis ( Material analysis service )

  • Noonan syndrome test ( Material analysis service )

    "Mutation screening using dHPLC to identify sequence changes. Sequence changes are analyzed by direct sequencing to determine the presence of a pathogenic mutation or a benign single nucleotide polymorphism."

  • Nucleophosmin mutation (NPM) test ( Material analysis service )

  • PKAN test ( Material analysis service )

    "Mutation scanning of the PANK2 gene to detect sequence changes. Identified sequence changes are sequenced to determine the presence of a disease-causing mutation or a single nucleotide polymorphism."

  • Prader-Willi Syndrome (Methylation) DNA test ( Material analysis service )

    "Specimen Requirements: 6.0 mL blood in EDTA vacutainer tube. For requisition slips.

    Pediatric Specimen Requirements: 2 mL blood in EDTA vacutainer tube.

    Reference Range: PWS is associated with the functional loss of inprinted genes located in the paternally derived 15q 11-q13 region. This is most commonly the result of either a paternal deletion of the 15q 11-q13 region (75% of cases) or maternal uniparental disomy for chromosome 15 (25% of cases).

    Interpretation: Professional interpretation of the methylation status of the small ribonucleoprotein associated polypeptide N (SNRPN) gene determines normal/disease states.

    Comments:
    Southern blot analysis of genomic DNA digested with specific restriction enzymes is used to assess imprinting and uniparental disomy of the 15q 11-q13 region. "

  • Prothrombin mutation (by DNA PCR) ( Material analysis service )

    "Direct detection by PCR of the G20210A mutation in the prothrombin gene that predisposes to familial thrombosis."

  • Rett Syndrome DNA analysis ( Material analysis service )

    "Mutation scanning of the MeCP2 gene, followed by DNA sequencing if a sequence change is identified. MLPA deletion analysis is available, upon request, if mutation analysis is negative."

  • Vancomycin-resistant enterocci (VRE) PCR test ( Material analysis service )

    "Qualitative (plus/minus) ultra-sensitive real-time PCR-based detection of the VanA and/or VanB genes mediating vancomycin resistance. A positive result indicates colonization and/or infection with a vancomycin-resistant bacteria (usually enterococcus). A spiked internal control gene assures efficient PCR amplification and lack of PCR inhibition for stool-containing samples."

  • Y chromosome detection service ( Material analysis service )

  • Zygosity testing ( Material analysis service )

    "This testing can be medically important in the case of bone marrow and organ transplantation."


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Last updated: 2012-08-23T19:10:30.313-05:00

Copyright © 2016 by the President and Fellows of Harvard College
The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016