Chromosome Analysis

DIAGNOSTICS

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THE DELTA PATHOLOGY GROUP ADVANTAGE — DIAGNOSTIC EXCELLENCE

Lab3(Oncology)
Chromosome analyses for hematological disorders of bone marrow and/or leukemic blood are performed to identify specific chromosome rearrangements. These rearrangements in neoplastic cells are often correlated to specific types of leukemia, pre-leukemias, or myelodysplasias. This information aids the clinician in diagnosis, predicting prognosis, and guiding treatment.  Examples of targeted abnormalities include:  t(9;22) [CML, ALL], t(15;17) , inv(16) , del(5q) [myelodysplasia, secondary AML].  Cytogenetic studies of bone marrow involve culturing of fresh specimen. Giemsa-banded chromosomes are analyzed from 20 or more metaphase cells. A minimum of two representative karyotypes are produced. Additional cell counts and banding techniques are performed when required.

(Non-oncology)
Cytogenetic studies of peripheral blood also involve culturing of fresh specimen. Giemsa-banded chromosomes are analyzed from 20 or more metaphase cells. A minimum of two representative karyotypes are produced. Additional cell counts and banding techniques are performed when required. If mosaicism is suspect, additional metaphase cells are evaluated.  Chromosome analysis on peripheral blood specimens may be performed for several indications: including multiple congenital anomalies in a patient;  couples with a history of spontaneous miscarriages; individuals with ambiguous genitalia, infertility, or amenorrhea; patients with a family history of chromosomal abnormalities; patients with a suspected chromosomal syndrome; and families with male predominant mental retardation.

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