Generom | Molecular Tests for Leukemia and Lymphoma

Teste moleculare pentru leucemii si limfoame

1. Fuziuni ale genelor

Testele se pot face fie din singe integral (>4ml) sau maduva osoasa (>1ml) puse in tuburi PAX RNA (ce pot fi puse la dispozitie la cerere).

Boala	Diagnostic / Evolutie	Tinta	Produs de fuziune
ACUTE LEUKEMIA	Diagnostic	Multiplex	28 fusion products (see below)
ACUTE LEUKEMIA	Follow-up	t(1;11)(p32;q23)	MLL / AF1p
ACUTE LEUKEMIA	Follow-up	t(1;11)(q21;q23)	MLL / AF1q
ACUTE LEUKEMIA	Follow-up	t(1;19)(q23;p13)	E2A / PBX1
ACUTE LEUKEMIA	Follow-up	t(3;21)(q26;q22)	AML / EAP / MDS / EVI1
ACUTE LEUKEMIA	Follow-up	t(3;5)(q25.1;q34)	NPM / MLF1
ACUTE LEUKEMIA	Follow-up	t(4;11)(q21;q23)	MLL / AF4
ACUTE LEUKEMIA	Follow-up	t(5;12)(q33;p13)	TEL / PDGFRB
ACUTE LEUKEMIA	Follow-up	t(5;17)(q35;q21)	NPM / RARA
ACUTE LEUKEMIA	Follow-up	t(6:11)(q27;q23)	MLL / AF6
ACUTE LEUKEMIA	Follow-up	t(6;9)(p23;q34)	DEK / CAN
ACUTE LEUKEMIA	Follow-up	t(8;21)(q22;q22)	AML1 / MGT8
ACUTE LEUKEMIA	Follow-up	t(9;11)(p22;q23)	MLL / AF9
ACUTE LEUKEMIA	Follow-up	t(9;12)(q34;p13)	TEL / ABL
ACUTE LEUKEMIA	Follow-up	t(9;22)(q34;q11)*	BCR / ABL
ACUTE LEUKEMIA	Follow-up	t(9;9)(q34;q34)	SET / CAN
ACUTE LEUKEMIA	Follow-up	t(10;11)(p12;q23)	MLL / AF10
ACUTE LEUKEMIA	Follow-up	t(11;17)(q23;q21)	MLL / AF17
ACUTE LEUKEMIA	Follow-up	t(11;17)(q23;q21)	PLZF / RARA
ACUTE LEUKEMIA	Follow-up	t(11;19)(q23;p13.1)	MLL / ELL
ACUTE LEUKEMIA	Follow-up	t(11;19)(q23;p13.3)	MLL / ENL
ACUTE LEUKEMIA	Follow-up	t(12;21)(p13;q22)*	TEL / AML1
ACUTE LEUKEMIA	Follow-up	t(12;22)(p13;q11)	TEL / MN1
ACUTE LEUKEMIA	Follow-up	t(15;17)(q22;q21)	PML / RARA
ACUTE LEUKEMIA	Follow-up	t(16;21)(q11;q22)	TLS / ERG
ACUTE LEUKEMIA	Follow-up	t(17;19)(q22;p13)	E2A / HLF
ACUTE LEUKEMIA	Follow-up	inv(16)(p13;q22)	CBFb / MYH11
ACUTE LEUKEMIA	Follow-up	t(X;11)(q13;q23)	MLL / AFX
ACUTE LEUKEMIA	Follow-up	TAL1deletion(p34)	SIL / TAL1
AML	Diagnostic	t(1;22)(p13;q13)	OTT / MAL
CML	Diagnostic	t(9;22)(q34;q11)*	BCR / ABL
CML	Follow-up	t(9;22)(q34;q11)*	BCR / ABL
LYMPHOMA	Diagnostic	t(14;18)(p32;q21)	BCL-2 / JH
LYMPHOMA	Follow-up	t(14;18)(p32;q21)	BCL-2 / JH

AML: leucemie acuta mielocitara
CML: leucemie cronica mielocitara
CLL: leucemie cronica limfatica
T-ALL: leucemie acute limfoblastica cu celule T

* deasemeni determinari cantitative

2. Supraexpresia genelor

Testele se pot face fie din singe integral (>4ml) sau maduva osoasa (>1ml) puse in tuburi PAX RNA (ce pot fi puse la dispozitie la cerere).

Boala	Diagnostic / Evolutie	Test
T-ALL	Diagnostic	Hox11L2 overexpression
ACUTE LEUKEMIA	Diagnostic / Follow-up	WT1 overexpression
LYMPHOMA	Diagnostic	cyclinD1 overexpression
CLL	Diagnostic	ZAP-70 overexpression

3. Rearanjamente ale lanturilor grele ale imunoglobulinelor sau a genelor receptorilor celulelor T

Testele pot fi efectuate pe singe integral (>4ml) sau maduva osoasa (>1ml) puse in tuburi EDTA.
Testele pot fi efectuate deasemeni pe biopsie, la cerere (va rugam sa ne contactati in avans).

Boala	Diagnostic / Evolutie	Test
LYMPHOMA OR ACUTE LEUKEMIA	Diagnostic	IgH gene rearrangement ( FR2, FR3 )
LYMPHOMA OR ACUTE LEUKEMIA	Diagnostic	TCR Gamma gene rearrangement ( J, JP )

4. Diverse

Testele se pot face fie din singe integral (>4ml) sau maduva osoasa (>1ml) puse in tuburi PAX RNA.

Boala	Diagnostic / Evolutie	Tinta	Comentariu
ACUTE LEUKEMIA	Diagnostic & Follow-up	Activating mutation (Internal tandem duplication) of the FLT3	Responsiveness to Various FLT3 Inhibitors
ACUTE LEUKEMIA	Diagnostic & Follow-up	Activating mutations in exon 14 of the FLT3	Responsiveness to Various FLT3 Inhibitors
ACUTE MYELOID LEUKEMIA	Diagnostic & Follow-up	Mutations in Exons 8, 11 AND 17 in KIT	Gleevec/Imatinib Responsiveness
ACUTE MYELOID LEUKEMIA	Follow-up	Exon 20 Mutations in FLT3 (Including ASP835)	Responsiveness to Various FLT3 Inhibitors
BONE MARROW TRANSPLANT: ENGRAFTMENT CONTROL	Follow-up	STR Markers	Chimerism
CHRONIC MYELOID LEUKEMIA AND ACUTE LEUKEMIA	Diagnostic & Follow-up	Mutations in Exons 4-10 of the ABL Gene (Including T315I)	Gleevec/Imatinib Responsiveness
CHRONIC MYELOMONOCYTIC LEUKEMIA (CMML)	Diagnostic	V617F Mutation in JAK2
ESSENTIAL THROMBOCYTHEMIA	Diagnostic	V617F Mutation in JAK2
HYPEREOSINOPHILIC SYNDROME	Diagnostic	V617F Mutation in JAK2
MAST CELL LEUKEMIA	Diagnostic & Follow-up	Mutations in Exon 17 in KIT	Gleevec/Imatinib Responsiveness
MASTOCYTOSIS	Diagnostic & Follow-up	Mutations in Exon 17 in KIT	Gleevec/Imatinib Responsiveness
MYELOID METAPLASIA WITH MYELOFIBROSIS	Diagnostic	V617F Mutation in JAK2
NEUTROPHILIC LEUKEMIA (CNL)	Diagnostic	V617F Mutation in JAK2
POLYCYTHEMIA VERA	Diagnostic	V617F Mutation in JAK2
SYSTEMIC MASTOCYTOSIS	Diagnostic	V617F Mutation in JAK2
THE MYELODYSPLASTIC SYNDROMES	Diagnostic	V617F Mutation in JAK2