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BCR/ABL (Minor breakpoint) QUALITATIVE

TEST NAME

– BCR/ABL (Minor breakpoint) QUALITATIVE
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ABOUT TEST

-Philadelphia chromosome (Ph) is found in 95% of chronic myelogenous leukemia (CML),
2-10% of pediatric acute lymphoblastic leukemia (ALL) and 20-50% of adult ALL patients.
Ph arises through a reciprocal translocation between the long arms of chromosomes 9
and 22 involving the ABL and BCR genes respectively, generating BCR-ABL fusion transcripts. In the ABL gene, exon 2 is involved while in the BCR gene two predominant breakpoint regions are involved: Major breakpoint cluster region (M-bcr) and minor breakpoint cluster region (m-bcr). In the M-bcr, two variant breakpoints occur; exon 13 generating the b2a2 (e13a2) fusion transcript and exon 14 generating the b3a2 (e14a2) fusion transcript. Both fusion transcripts of 8.5 kb in size, encode a 210 kD chimeric protein (p210). In the m-bcr, the breakpoint involves BCR exon 1, generating a 7.5 kb fusion transcript e1a2 encoding a 190 kD chimeric protein (p190), mostly detected in Ph positive ALL patients. Identification of BCR-ABL fusion transcripts is consistent with CML or ALL diagnosis and poor prognosis in ALL.
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GENES TESTED


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SAMPLE REQUIREMENTS

– EDTA
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TAT

– 14
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Related Tests

BCR/ABL by PCR (Major breakpoint), JAK2 V617V mutation
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