MOC MGP General Molecular Genetics I (Mandatory 75-Question Module) assay validation; sensitivity; oligodendroglioma, FISH CAP lab accreditation;

Similar documents
MOC MGP General Molecular Genetics I (Mandatory 75-Question Module) analytical measurement range; CLSI MM06-A2 PCR assay performance and validation

Molecular Genetic Pathology CC Exam Module Study Guide

Molecular Diagnosis. Nucleic acid based testing in Oncology

Nucleic Acid Testing - Oncology. Molecular Diagnosis. Gain/Loss of Nucleic Acid. Objectives. MYCN and Neuroblastoma. Molecular Diagnosis

Original Policy Date

ACMG/CAP Cytogenetics CY

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

Molecular Diagnostics Overview JAN A. NOWAK, PHD, MD PATHOLOGY AND LABORATORY MEDICINE MOLECULAR DIAGNOSTICS LABORATORY FEBRUARY 15, 2018

Molecular. Oncology & Pathology. Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine. Liquid Biopsy.

CANCER. Inherited Cancer Syndromes. Affects 25% of US population. Kills 19% of US population (2nd largest killer after heart disease)

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

CMS will not implement the new tier codes for Medicare/Medicaid claims for calendar year 2012.

Multistep nature of cancer development. Cancer genes

HST.161 Molecular Biology and Genetics in Modern Medicine Fall 2007

oncogenes-and- tumour-suppressor-genes)

CANCER GENETICS PROVIDER SURVEY

TEST MENU TEST CPT CODES TAT. Chromosome Analysis Bone Marrow x 2, 88264, x 3, Days

Mohammed El-Khateeb. Tumor Genetics. MGL-12 May 13 th Chapter 22 slide 1 台大農藝系遺傳學

Out-Patient Billing CPT Codes

CYTOGENETICS INTRODUCTION SPECIAL INSTRUCTIONS ON SAMPLE COLLECTION AND HANDLING

Introduction to Cancer Biology

Current and future applications of Molecular Pathology. Kathy Walsh Clinical Scientist NHS Lothian

American Society of Cytopathology Core Curriculum in Molecular Biology

Basic Definitions. Dr. Mohammed Hussein Assi MBChB MSc DCH (UK) MRCPCH

Molecular Markers. Marcie Riches, MD, MS Associate Professor University of North Carolina Scientific Director, Infection and Immune Reconstitution WC

MRC-Holland MLPA. Description version 29;

Non-Mendelian inheritance

Policy Specific Section: Medical Necessity and Investigational / Experimental. October 14, 1998 March 28, 2014

LIST OF INVESTIGATIONS

GENETIC MARKERS IN LYMPHOMA a practical overview. P. Heimann Dpt of Medical Genetics Erasme Hospital - Bordet Institute

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

Tumor suppressor genes D R. S H O S S E I N I - A S L

Genetic Disorders. SCPA 501: General Pathology. Amornrat Naranuntarat Jensen

IHCP bulletin INDIANA HEALTH COVERAGE PROGRAMS BT MARCH 13, 2012

Anatomic Molecular Pathology: An Emerging Field

September 04, 2008

Introduction to Genetics

A) CLASSES 25 hours SUBJECT: RULES AND REGULATIONS. INTRODUCTION TO GENETICS

Oxford BRC Haemato-Molecular Diagnostic Service

The mutations that drive cancer. Paul Edwards. Department of Pathology and Cancer Research UK Cambridge Institute, University of Cambridge

Role of FISH in Hematological Cancers

Welcome to the Genetic Code: An Overview of Basic Genetics. October 24, :00pm 3:00pm

Molecular Oncology, oncology parameters see each test

6/12/2018. Disclosures. Clinical Genomics The CLIA Lab Perspective. Outline. COH HopeSeq Heme Panels

General Approach to Genetic Testing

Genetic Diseases. SCPA202: Basic Pathology

SALSA MLPA KIT P060-B2 SMA

Mohammed El-Khateeb. Tumor Genetics. MGL-12 July 21 st 2013 台大農藝系遺傳學 Chapter 22 slide 1

Molecular Cell Biology. Prof. D. Karunagaran. Department of Biotechnology. Indian Institute of Technology Madras

molecular oncology services

Corrigenda. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (revised 4th edition): corrections made in second print run

Centers for Medicare and Medicaid Services

Application. Application of molecular biology methods in hematology and oncology. Oncogenes are involved in:

Genetic Assessment and Counseling

Development of Carcinoma Pathways

The Human Major Histocompatibility Complex

Evolution of Pathology

1. Basic principles 2. 6 hallmark features 3. Abnormal cell proliferation: mechanisms 4. Carcinogens: examples. Major Principles:

Developments in Laboratory Genetics

Integrating Genetics Technology into a Health Care System

What is New in Genetic Testing. Steven D. Shapiro MS, DMD, MD

REGULATIONS FOR THE POSTGRADUATE DIPLOMA IN MOLECULAR AND DIAGNOSTIC PATHOLOGY (PDipMDPath)

Objectives. Morphology and IHC. Flow and Cyto FISH. Testing for Heme Malignancies 3/20/2013

Chapter 11 Gene Expression

MRC-Holland MLPA. Description version 19;

Test Bank for Robbins and Cotran Pathologic Basis of Disease 9th Edition by Kumar

SALSA MLPA probemix P315-B1 EGFR

Cost-Effective Strategies in the Workup of Hematologic Neoplasm. Karl S. Theil, Claudiu V. Cotta Cleveland Clinic

Human Genetic Disorders

Chapt 15: Molecular Genetics of Cell Cycle and Cancer

MRC-Holland MLPA. Description version 08; 30 March 2015

Hereditary Cancer Syndromes

MPL W515L K mutation

August 17, Dear Valued Client:

Introduction. Cancer Biology. Tumor-suppressor genes. Proto-oncogenes. DNA stability genes. Mechanisms of carcinogenesis.

Karyotype analysis reveals transloction of chromosome 22 to 9 in CML chronic myelogenous leukemia has fusion protein Bcr-Abl

TECHNICAL NOTICE. The CPT coding in this notice is effective January 1, 2013 and replaces the coding currently in use for these assays

Human Genetics (Learning Objectives)

Genetic Testing of Inherited Cancer Predisposition Genetic Testing - Oncology

Carcinogenesis. Carcinogenesis. 1. Basic principles 2. 6 hallmark features 3. Abnormal cell proliferation: mechanisms 4. Carcinogens: examples

Your single-source laboratory solution. FISH Probe Library

Cancer Genetics. What is Cancer? Cancer Classification. Medical Genetics. Uncontrolled growth of cells. Not all tumors are cancerous

Date of Birth Gender Ethnicity/Family History Male Female Unknown. (Institutional Billing only. We DO NOT bill patients directly.)

Enabling Personalized

Gene Therapy. Definition: A disease resulting from a defect in individual genes. > 6000 inherited diseases 1:200 Births

Human Genetics 542 Winter 2018 Syllabus

Cancer genetics

MULTIPLE CHOICE QUESTIONS

What is DNA? DNA is a double helix formed by base pairs attached to a sugar-phosphate backbone.

New: P077 BRCA2. This new probemix can be used to confirm results obtained with P045 BRCA2 probemix.

Test Bank for Robbins and Cotran Pathologic Basis of Disease 9th Edition by Kumar

MRC-Holland MLPA. Description version 28; 4 January 2018

Ch. 18 Regulation of Gene Expression

Human Genetics 542 Winter 2017 Syllabus

Molecular and Cellular Biology Unit School of Life Sciences Manipal University Manipal

Agro/Ansc/Bio/Gene/Hort 305 Fall, 2017 MEDICAL GENETICS AND CANCER Chpt 24, Genetics by Brooker (lecture outline) #17

Learning Outcomes: The following list provides the learning objectives that will be covered in the lectures, and tutorials of each week:

Transcription:

MOC MGP General Molecular Genetics I (Mandatory 75-Question Module) assay validation; sensitivity; oligodendroglioma, FISH CAP lab accreditation; phase II deficiency oligodendroglioma; chemotherapy response CFTR phenotype oncogenes; KRAS activation CLIA proficiency testing; alternatives paternity testing coding sequences; percent of genome PCR assay performance and validation DNA melting temperature PCR interpretation and troubleshooting Down syndrome; cytogenetics PCR; annealing temperature electropherograms showing mutations PCR; CFTR gene; cystic fibrosis extraction controls PCR; exonic vs intronic primers PCR; preanalytical errors FISH validation PCR; viral CNS infections fragile X pedigree; Huntington disease frameshift variant pharmacogenetics; warfarin response Friedreich ataxia; risk positive predictive value gene nomenclature Prader-Willi genetic imprinting primer preparation; calculations gestational trophoblastic diseases; ploidy procedure manuals standards Human Genome Organization nomenclature QA; calibration curve; degrading primer ICD coding QC; quantitative RT-PCR introns; dinucleotides quality control; causes of false negative results loss of heterozygosity quality control; restriction enzyme digestion mantle cell lymphoma quantitative PCR and RT-PCR maternal cell contamination studies ROC curves meiosis; nondisjunction RT-PCR for t(11;22) methylation; epigenetics RT-PCR; dynamic range methylation; epigenetics single nucleotide polymorphisms microrna single stranded nucleic acids composition mitochondrial disorders; neuromuscular standard nomenclature, cdna mrna sequence change; mutation effect stop codons multiplex ligation dependent probe amplification TERT gene multiplex PCR vs Southern blot tissue identity testing mutation effect; amino acid sequence Tm; double stranded DNA myotonic dystrophy viral load precision next generation sequencing whole genome sequencing; inherited variants nucleic acid hybridization reactions

MOC MGP General Molecular Genetics II (Elective 75-Question Module) APL; retinoic acid resistance HPV molecular testing; HSIL assay validation; precision HPV types; head and neck cancers BCR/ABL HPV; cervical cancer risk CLIA proficiency testing; lab accreditation HSV PCR on CSF; indications comparative genomic hybridization interpretation ion channel defects control of gene expression; alternative splicing laboratory specimens for research; IRB CSF PCR assays for viral infections LOH; false positive results DHCR7 gene analysis method comparisons; precision disease prevalence calculations method validation DNA methylation detection mismatch repair enzymes mitochondrial DNA polymorphism analysis; Duchenne muscular dystrophy indications effect of gene point mutations MLH1, HNPCC EGFR mutations in lung cancer mrna sequence change effect engraftment testing; samples nucleotide vs nucleoside epigenetic silencing nucleotide vs nucleoside ethics of notifying estranged family member of new dx odds ratio calculations etiologic diagnosis of intellectual disability; array CGH parentage index calculations familial hypertrophic cardiomyopathies paternity testing; interpretation of results fragile X; inheritance PCR amplification interference; specimen collection fragile X; PCR interpretation PCR; exonic vs. intronic primers gene mutation hot spots PCR; missed mutations gene sequence, human telomere pharmacogenetics; codeine metabolism Genetic Information Nondiscrimination Act of 2008 progressive multifocal leukoencephalopathy gliomas; resistance to tyrosine kinase inhibitors protective mutations Hardy Weinberg risk calculations HCV types; response to therapy STR profiles; forensics heavy chain gene rearrangements; clonality STR; molar pregnancies hemochromatosis; genetic testing of children succinate dehydrogenase mutations in tumors HER2 - cell membrane tyrosine kinase TaqMan hereditary thrombophilia testing Tm; double stranded DNA histone acetylation tyrosine kinase inhibitors; GIST HIV assays; interpretation validation; RT-PCR HIV viral load Wilson Disease; laboratory findings HLA alleles X inactivation HLA matching for transplantation

MOC MGP Genetics I (Elective 25-Question Module) achondroplasia locus heterogeneity allele frequency calculation maternal contamination of villous sample Angelman syndrome genes parentage index CHARGE syndrome pedigree; autosomal dominant inheritance cleft palate; mode of inheritance pedigree; autosomal recessive inheritance; congenital long QT syndrome mutations pedigree; dominant inheritance cystic fibrosis reflex testing; 8 poly-t polymorphism pedigree; incomplete penetrance cystic fibrosis; parent unexpected test results pedigree; modifier genes deletion analysis, MLPA pedigree; patterns of inheritance familial cancer syndrome pedigree pedigree; risk of disease hemophilia A Tay-Sachs incidence Huntington disease transplant donor identification; HLA testing identity testing; twins Trisomy 18 by chromosomal microarray MOC MGP Genetics II (Elective 25-Question Module) analytic validation of new tests linkage analysis apolipoprotein E genotypes and genotyping loss of heterozygosity; principles CFTR mutations and CF treatment mitochondrial disorder testing; specimen types CLIA; performance characteristic of a new genetic test oculopharyngeal muscular distrophy Gaucher disease paternity index calculations genetic exceptionalism pedigrees; patterns of inheritance pre-symptomatic genetic testing of minors; ethical HFE gene; hemochromatosis considerations HLA nomenclature pseudogenes and mutant alleles HLA; allele coding sequence sibling HLA match; transplantation HLA; parental and sibling haplotypes trinucleotide repeat disorders Huntington disease zygosity identity testing MOC MGP Infectious Diseases I (Elective 25-Question Module) antibiotic resistance genes pertussis; diagnostic molecular tests cat scratch disease positive predictive value calculations CSF viral testing post transplant CMV PCR CSF; multiplex test for viruses prevention of nosocomial MRSA enterovirus meningitis QC; sample contamination hepatitis C renal allograft recipients; viral testing respiratory syncytial virus; diagnosis and molecular HIV viral load informing patient management detection HIV; acute phase viral load respiratory viruses; amplicons; mortality risk HIV; RT-PCR RT PCR, norovirus HIV-1 resistance testing RT-PCR, validation study mycobacteria; isoniazid resistance; gene mutations single stranded RNA viruses mycobacteria; NAAT interpretation; CDC guidelines WHO international unit for HCV viral load reporting penicillin resistant Strep pneumo

MOC MGP Infectious Diseases II (Elective 25-Question Module) assay measurement range determination molecular respiratory virus testing panels BK virus testing molecular testing interpretation; latent infections CNS infections; sensitivity of molecular tests multiplex endpoint PCR interpretation false positive HIV tests positive predictive value Hepatitis B virus mutations pre-analytical specimen issues HIV-1 mutations qualitative real-time PCR testing; interpretation HPV testing quality control charts; interpretation HPV types; cervical cancer real-time PCR interpretation human herpesvirus 6 stool specimens for molecular testing laboratory acquired infections MOC MGP Oncology/Hematology I (Elective 25-Question Module) ankyrin mutations hairy cell leukemia APL Imatinib resistance B-lymphocyte development immunoglobulin gene rearrangement sequence capillary electrophoresis; mantle cell lymphoma leukemia, KIT cdna sequence; ABL kinase; CML major molecular response; CML; qrt-pcr clonal T-cell gene rearrangements; PCR; capillary gel electrophoresis MALT lymphomas; translocation CML; cytogenetic evolution mantle cell lymphoma; FISH; immunophenotype myelodysplastic syndromes; CGH array interpretation FISH, TEL/AML1 PCR; BM post-transplant; engraftment FLT3 fragment analysis; interpretation RT- PCR; minimal residual disease; CML FR1/FR3 IGH variable region genes translocations, lymphoid neoplasms genetic abnormalities in myeloproliferative disorders MOC MGP Oncology/Hematology II (Elective 25-Question Module) acute lymphoblastic leukemia follicular lymphomas acute promyelocyte leukemia germline organization of heavy chain locus ALK hyperplasia vs lymphoma AML with abnormal marrow eosinophils IGH rearrangements AML; SNP array interpretation PCR electropherogram interpretation anaplastic large cell lymphoma PCR; mutations in acute myeloid leukemia B lymphoblastic leukemis/lymphoma post-transplant lymphoproliferative disorders chronic lymphocytic leukemia pre-analytical errors chronic myelogenous leukemia T-cell large granular lymphocytic leukemia diffuse large B cell lymphoma; gene dysregulation TCR gamma; subtypes ETV6/RUNX1 types of mutations

MOC MGP Oncology/Solid Tumors I (Elective 25-Question Module) BRCA 1 and 2; breast cancer risk gliomas; IDH1 mutations BRCA2 familial cancer syndrome; pedigree inherited vs. somatic mutation CNS tumors; prognostic genetic alterations lung cancer; EGFR mutations; response to therapy colon neoplasia; sequence of genetic lesions malignant rhabdoid tumor colorectal cancer; MLH-1 IHC microsatellite instability engraftment analysis; PCR microsatellite instability familial polyposis; genetics neuroblastoma; microarray analysis; FISH genes frequently mutated in colon cancer oligodendroglioma; chemotherapy response gene-syndrome associations retinoblastoma germ cell tumors; iso12p STR genotype, colon cancer GIST; mutations synovial sarcoma; translocation glioma; FISH; loss of heterozygosity T-cell clonality; FFPE tissue MOC MGP Oncology/Solid Tumors II (Elective 25-Question Module) adenomatous polyposis coli inherited oncogenes Birt-Hogg-Dube syndrome lung cancer with EGFR activation mutation BRAF mutations lung cancer; molecular testing; mutations ClinVar melt curve analysis; interpretation CNS tumors most common somatic mutations EGFR mutation testing; indications non-cutaneous melanomas electropherograms; interpretation reverse transcription PCR; interpretation EWS-TW1 ROC curves TERT glioblastoma Wilms tumor