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1,170 Possible Causes for Blood, DNA, Molecular, Pharmacogenetic, Tissue, analysis, by, genetics, IN, method, or, panel

  • LIG4 Syndrome

    Repository NIGMS Human Genetic Cell Repository Subcollection Heritable Diseases Class Disorders of Connective Tissue, Muscle, and Bone Biopsy Source Arm Cell Type Fibroblast[] Pharmacogenetics and pharmacogenomics are emerging areas that are essential to the development of personalized medicine, ultimately leading to drug prescription based on patient[] […] with the currently known genetic and epigenetic markers.[] Diagnostic methods Diagnosis is based on evidence of the characteristic clinical signs of LIG4 syndrome, particularly the ''bird-like'' facial features, and low T and B cells[] neutropenia of adults(NI-CINA) Severe congenital neutropenia(SCN) / Nonimmune chronic idiopathic neutropenia of adults(NI-CINA) ICOSbase Common variable immunodeficiency[] Immunological Reviews 162 , 5 - 11 48 Shivarov , V. et al. ( 2009 ) Molecular mechanism for generation of antibody memory .[] Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites[] STAT panels are not customizable in order to support the accelerated turnaround time. This panel is not customizable at this time.[] Huseyin Cetin and Fatma Gumruk}, journal {Pediatric blood & cancer}, year {2009}, volume {53 3}, pages { 482-4 } } S. C.[] Pharmacogenetics 2000 ; 10 : 605 –15. Vaandrager JW , Schuuring E, Philiippo K, Kluin PM.[]

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  • Barth Syndrome

    The molecular composition of cardiolipin was altered in all tissues from BTHS patients.[] Nature Genetics 12: 385–389.[] Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference[] It should also be considered in the following scenarios: boys with idiopathic neutropenia (particularly where this is intermittent and unpredictable); those with unexplained[] For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible. DNA may be shipped at room temperature.[] As expected, mass spectrometry analysis revealed a significant ( 90%) reduction in CL in BTHS lymphoblasts compared to controls.[] STAT panels are not customizable in order to support the accelerated turnaround time. This panel is not customizable at this time.[] Neutropenia - This refers to an abnormally low number of neutrophils (a type of white blood cell) in the blood.[] Nutritional cardiomyopathy (including thiamine, selenium, carnitine and vitamin D deficiency) Idiopathic mitochondrial disease Cyclic or idiopathic neutropenia Management[] BTHS iPSC-CMs assembled sparse and irregular sarcomeres, and engineered BTHS 'heart-on-chip' tissues contracted weakly.[]

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  • Lynch Syndrome

    Therefore, most groups now advocate for tumor tissue testing to screen for LS, with germline testing targeted to women with abnormal tissue testing results.[] The Human Molecular Genetics & Pharmacogenetics Lab Migal—Galilee Bio-Technology Center Kiryat Shmona Israel 6.[] PLoS Genet. 2017 Oct 31;13(10):e1007012. doi: 10.1371/journal.pgen.1007012. eCollection 2017 Oct. von Salomé J 1 , Boonstra PS 2 , Karimi M 3 , Silander G 4 , Stenmark-Askmalm[] METHODS: We conducted a transversal cohort study of 34 patients having a CRC with a family history for a period of eight years.[] Every time a cell divides and becomes two cells, the DNA needs to be accurately copied from one cell to the next.[] We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America.[] […] gynaecological screening including clinical examination, pelvic ultrasound, and endometrial biopsy, has not proven its benefit, our case report points out the place of MSI analysis[] Methods We retrospectively reviewed clinical histories of patients who had multigene panel testing, including the MMR and EPCAM genes, between March 2012 and June 2015 (N[] Analysis/methods DNA, Complementary/blood DNA, Complementary/genetics DNA, Neoplasm/blood DNA, Neoplasm/genetics Exons* Gene Rearrangement Germ-Line Mutation Humans Male[] Lin JS, Webber EM, Senger CA et al (2011) Systematic review of pharmacogenetic testing for predicting clinical benefit to anti-EGFR therapy in metastatic colorectal cancer[]

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  • Fanconi Anemia

    CONCLUSIONS: PDT effectively influences periodontal healing and reduces periodontopathogenic bacteria without damaging the patient's tissues.[] Reagents and conditions were as recommended by the manufacturers (PyroMark Q96 ID, Diatech Pharmacogenetics, Jesi, Italy).[] We therefore are sanguine that in the future, genetic therapy can be used clinically for the correction of FA HSCs in the standard care of FA patients.[] […] delivery methods to perform targeted gene correction should be developed.[] FA proteins act at different steps of ICL repair in sensing, recognition and processing of DNA lesions.[] The identification of breast cancer susceptibility genes (for example, BRCA1/FANCS and BRCA2/FANCD1) as being major players in the FA pathway has led to a surge in molecular[] Complementation analysis would help in identifying the disease-causing gene before molecular analysis, as was partially done in this study.[] Fanconi Anemia NGS panel Genes: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2 (excluding exons 15, 16), FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2[] Treatment may include a blood and bone marrow transplant , blood transfusions , or medicine to help your body make more red blood cells.[] […] immortalized fibroblast cell lines FA-A:PD220 and FA-D2:PD20 were grown in minimum essential medium (MEM) supplemented with 15% fetal bovine serum (FBS) and antibiotics in 24-well tissue[]

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  • Hemochromatosis

    Hereditary hemochromatosis (HH) refers to several inherited disorders of iron metabolism leading to tissue iron overload.[] Medicine Patient Care Patient Information Pediatrics Performance Improvement Performance Measures Perioperative Care and Consultation Pharmacoeconomics Pharmacoepidemiology Pharmacogenetics[] Eur J Med Genet. 2016 Oct;59(10):532-9. doi: 10.1016/j.ejmg.2016.08.011. Epub 2016 Aug 31.[] Others 153 results of samples were compared with reference method (PCR_RFLP) and the accordance of the results evaluated by Fleiss' κ method.[] , Bacterial/chemistry DNA, Bacterial/genetics DNA, Ribosomal/chemistry DNA, Ribosomal/genetics Hemochromatosis/complications* Hemochromatosis/diagnosis* Humans Male Middle[] We further performed molecular dynamics simulation for 40 ns to see the effect of GdmCl on the structural stability of HFE.[] Pedigree analysis estimated the frequency of the hemochromatosis gene at 0.069 /- 0.020 with a recombination probability of 0.015 /- 0.015 with the HLA region.[] METHODS: A next-generation sequencing panel of 15 genes with known roles in iron metabolism was constructed.[] Other blood banks make local adjustments. 16 of 22 responding blood banks accept hemochromatosis donors and five do not, and one answered partly yes.[] He was awarded the Lifetime Achievement Award by the American College of Medical Genetics Foundation (ACMGF) and is the founder of the field of pharmacogenetics.[]

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  • Thiopurine S-Methyltransferase Deficiency

    […] doses of thiopurine medications (for example, 75 mg/m2 body surface area per day), TPMT-deficient patients accumulate excessive thioguanine nucleotides in hematopoietic tissues[] Inosine triphosphatase (ITPA) mutations are other pharmacogenetic polymorphisms possibly involved in thiopurine metabolism and tolerance.[] , there are several limitations to this meta-analysis.[] Panel Description This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Thiopurine[] […] platelets, which are blood cell fragments that are are involved in blood clotting .[] RNA-sequencing reveals that not only is it present in all tissues but it is present in specialised areas within those tissues (Figure 1B) and there is little variability between[] Pharmacogenetics 2:148–159, 1992 PubMed Google Scholar 26.[] Molecular diagnosis of thiopurine S-methyltransferase deficiency: Genetic basis for azathioprine and mercaptopurine intolerance .[] In addition, to reduce the toxicity risk of patients, the tumor DNA information should be in- grated with the available data on polymorphic drug-metabolizing enzyme and tra[] The detection of TPM mutations provides a molecular diagnostic method for prospectively identifying TPM-deficient and heterozygous patients.[]

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  • Dihydropyrimidine Dehydrogenase Deficiency

    A neck CT showed an abnormal soft tissue density in the region of the epiglottis. Subsequent biopsy revealed squamous cell carcinoma of the epiglottis (T3, N1, M0).[] A deficiency of DPD is increasingly being recognized as the cause of an important pharmacogenetic syndrome.[] Genetic testing can also be helpful for diagnosis.[] This method is not so complicated and less time consuming as previous method such as liquid chromatography.[] Direct sequencing of lymphocyte DNA from these subjects revealed the presence of a G to A point mutation at the 5'-splicing site consensus sequence (GT to AT) that leads to[] This HPLC method is based on the use of a simultaneous UV detection at 205 and 268nm during the analysis run of the plasma extract and taking into account the particularity[] […] for 137 genes) Genetic carrier test (NGS panel of 101 genes) Dihydropyrimidine dehydrogenase deficiency (deletion/duplication analysis on DPYD gene)[] RESULTS: African-Americans showed significantly reduced peripheral blood mononuclear cell DPD enzyme activity compared with Caucasians (0.26 /-0.07 and 0.29 /-0.07 nmol/min[] Through the use of pharmacogenetic studies, interindividual variability in response (efficacy and toxicity) to 5-fluorouracil (5-FU) chemotherapy has been linked to the rate-limiting[] Thus, this noninvasive yet comprehensive urinalysis has great value for those without a family history, as the first trial, before DNA or the enzyme assay.[]

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  • Mitochondrial Disease

    Mutation analysis using mitochondrial DNA (mtDNA) extracted from renal tissues demonstrated a A-- G point mutation at nucleotide position 3243 in the tRNA(Leu(UUR)) gene,[] Hernandez-Boussard T, Whirl-Carrillo M, Hebert JM, Gong L, Owen R, et al. (2008) The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge.[] Uncertainty surrounding issues of family planning and genetic testing may also affect the patient.[] As a result, information regarding the optimal method of packaging CoQ 10 in liposomes is not available.[] The small circle of mitochondrial DNA (mtDNA) present in all human cells has proven to be a veritable Pandora's box of pathogenic mutations and rearrangements.[] Molecular analysis of mutated mtDNA heteroplasmy levels revealed that neuronal cell loss occurred independently of the level of mutated mtDNA present within surviving neurons[] All patients underwent transthoracic echocardiography with conventional and advanced myocardial analysis.[] DNA) Haplogroup: Phy-Mer, MitoMaster Gene Annotation: Panel Examiner & Universal ID Mapper Quick-Mitome Interpretation with Exomiser and HPO HPO Mapping from Clinical Text[] The identification of causative mtDNA mutations may be particularly troublesome in blood where there are often low levels of mutant mtDNA.[] Adult patients with a known molecular genetic defect were selected.[]

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  • Autosomal Recessive Primary Microcephaly

    Experiments in tissue culture cells revealed that the Ile62Thr mutant of HsSAS-6 is substantially less efficient than the wild-type protein in sustaining centriole formation[] Constitutional genetic tests are also registered for non-rare diseases, for diseases with a genetic susceptibility and for pharmacogenetics.[] So far, seven genetic loci (MCPH1-7) for this condition have been mapped with seven corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL) identified[] METHODS: As part of a large study to detect the genetic basis of primary microcephaly in Pakistan, homozygosity mapping and DNA sequencing was used to explore the genetic[] Molecular genetics of human microcephaly.[] Sequence analysis of the ASPM gene in 18 linked families detected 2 novel nonsense mutations (c.2101C T/p.Q701X; c.9492T G/p.Y3164X) in 2 families and 2 novel deletion mutations[] A panel of microsatellite markers spanning each of the MCPH loci was designed, against which the families were genotyped.[] Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample[] METHODS/RESULTS: We characterized the clinical, radiological, and cellular features that add to the human MCPH2 phenotype.[] G. / Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation.[]

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  • B-Precursor Acute Lymphoblastic Leukemia

    […] only Differential diagnosis Lymph nodes and extranodal tissue: in children, Burkitt lymphoma.[] Further improvements in outcome may require individualized dosing based on specific pharmacogenetic profiles, especially for AA and SS children.[] Recent studies have used microarrays and sequencing to comprehensively identify all somatic genetic alterations in acute lymphoblastic leukemia (ALL).[] The results suggest that this method can reliably estimate residual leukemia over a range of five orders of magnitude.[] Ikaros proteins lacking the DNA binding sequences were detected in the cytoplasm but not in the nucleus of the cells.[] […] pathogenesis of pediatric B-precursor acute lymphoblastic leukemia is largely unknown, and even with nonrandom chromosomal translocations present, the precise order of clonal molecular[] Pathway enrichment analysis of DEGs and transcription factors (TFs) enrichment analysis were performed, followed by construction of co-expressed, DEGs, and susceptibility[] It has been shown that Torin-2 displayed dramatic antiproliferative activity across a panel of cancer cell lines.[] Blood. 2002 Apr 15;99(8):2992-6.[] Further improvements in outcome may require individualized dosing based on specific pharmacogenetic profiles, especially far AA and SS children.[]

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