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TEST DIAGNOSTICO(-I) ESEGUITO(-I) DAL LABORATORIO (9)

SERBIA

Serbia
BELGRADE

Molecular diagnosis of beta-thalassemia (HBB gene: detection of IVSI-1 G>A, IVSI-6 T>C, IVSI-110 G>A, IVSII-1 G>A, IVSII-745 C>G, beta 0-39 C>T mutations by ARMS-PCR and reverse dot blot; HB Lepore by gap PCR; complete gene sequencing)
Institute of Molecular Genetics and Genetic Engineering
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Tecnica/Tecniche : Tecniche basate sulla PCR

SERBIA

Serbia
BELGRADE

'Molecular diagnosis of phenylketonuria (PAH gene: R408W, L48S, R261Q, R261X, IVS10-11G>A and R158Q mutation screen by PCR-RFLP; analysis of 13 exons and their flanking introns by DGGE)'
Institute of Molecular Genetics and Genetic Engineering
Scopo : Diagnosi postnatale
SpecialitÓ : Genetica molecolare
Tecnica/Tecniche : Tecniche basate sulla PCR

SERBIA

Serbia
BELGRADE

Molecular diagnosis of chronic myeloproliferative disorders (JAK2 gene: mutation V617F)
Institute of Molecular Genetics and Genetic Engineering
Scopo : Genetica delle cellule somatiche
SpecialitÓ : Genetica molecolare

SERBIA

Serbia
BELGRADE

Molecular diagnosis of acute promyelocytic leukemia with t(15;17)(q22;q12) translocation (detection of PML/RARA fusion transcript)
Institute of Molecular Genetics and Genetic Engineering
Scopo : Genetica delle cellule somatiche
SpecialitÓ : Genetica molecolare

SERBIA

Serbia
BELGRADE

'Molecular diagnosis of acute myeloid leukemia with t(8;21) (detection of ETO-AML1 fusion transcript)'
Institute of Molecular Genetics and Genetic Engineering
Scopo : Genetica delle cellule somatiche
SpecialitÓ : Genetica molecolare

SERBIA

Serbia
BELGRADE

Molecular diagnosis of chronic myeloid leukemia (detection of BCR-ABL fusion transcript)
Institute of Molecular Genetics and Genetic Engineering
Scopo : Genetica delle cellule somatiche
SpecialitÓ : Genetica molecolare

SERBIA

Serbia
BELGRADE

'Molecular diagnosis of acute lymphoblastic leukemia (detection of BCR-ABL, MLL-AFF1, TEL-AML1 and E2A-PBX1 fusion transcripts; rearrangements of IGH and CD3G loci)'
Institute of Molecular Genetics and Genetic Engineering
Scopo : Genetica delle cellule somatiche
SpecialitÓ : Genetica molecolare

SERBIA

Serbia
BELGRADE

Molecular diagnosis of thiopurine s-methyltranferase deficiency (TPMT gene: detection of G238C, G460A, A719G mutations by PCR-RFLP)
Institute of Molecular Genetics and Genetic Engineering
Scopo : Farmacogenetica
SpecialitÓ : Genetica molecolare
Obiettivo(i) : Analisi mirata a una mutazione specifica
Tecnica/Tecniche : Sequenziamento con metodo Sanger

SERBIA

Serbia
BELGRADE

'Molecular diagnosis for prognostic groups in acute myeloid leukemia (NPM1 gene: mutations in exon 12; FLT3: mutation detection comprising D835)'
Institute of Molecular Genetics and Genetic Engineering
Scopo : Genetica delle cellule somatiche
SpecialitÓ : Genetica molecolare