TEST SCHEDULES
 


Cellular

Flow Cytometry

Immunohistochemistry

 

Sub Cellular

Classic Cytogenetics

Digital Image Analysis

 

Sub Chromosomal

Molecular Cytogenetics
                 FISH

 

Molecular

Molecular Genetics-
                 PCR

  
   

Classic Cytogenetics -

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 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) [AML-M3], inv(16) [AML-M4], del(5q) [myelodysplasia, secondary AML]. 

Non-oncology

Cytogenetic studies of peripheral blood 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. 

 

 

  
 
 

Download our Tests  -- Organized by how you use them

Alphabetical Test List (28k)  or by Test #
    - with reference #

Test list by the type of disease testing (155k)
    - with reference #, Test Type and Description

Tests Details (425k)

    - alphabetical with reference #, Test Type, Includes, CPT Codes, Descriptions, and Disease/Specialty cross reference.

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Tests By Type
ref# Test Type Test Name CPT code Includes Description Clinical Significance Normal Ranges Specimen
83 Chromosome Analysis: Cytogenetics Amniotic Fluid Chromosome Analysis 88280 (1), 88235 (1), 88267* (1), 88291 (1) Cell Culture, Chromosome Analysis - 2 karyotypes & Interpretation Prenatal diagnosis for chromosomal abnormalities. The test includes culturing of amniotic fluid followed by the comprehensive analysis of chromosomes along with a prepared karyotype. Chromosome analysis on amniotic fluid for prenatal diagnosis is performed for several indications: advanced maternal age, abnormal maternal screening, family history of genetic abnormality. Due to the unique nature of genetic testing, patients should receive pre- and post- test counseling. Informed consent is recommended. 46,XX normal female; 46,XY normal male Amniotic fluid
80 Chromosome Analysis: Cytogenetics Bone Marrow Chromosome Analysis 88237 (1), 88264* (1), 88280(2), 88291 (1) Cell Culture, Chromosome Analysis, & Interpretation Chromosome analysis of bone marrow aspirate to decipher the etiology of hematologic disease. Diseases include myelodysplasias, acute leukemias, chronic leukemias, lymphomas, and myeloproliferative disorders. Chromosome analysis for hematological disorders of bone marrow is performed to identify specific chromosome rearrangements. These rearrangements in neoplastic cells are often correlated to specific types of leukemia or myelodysplasias. This information aids the clinician in diagnosis, predicting prognosis, and guiding treatment. 46,XX normal female; 46,XY normal male Bone Marrow
28 Chromosome Analysis: Cytogenetics Cytogenetics - Oncology / Hematology 88237(1), 88262(1), 88291(1) Cell Culture, Chromosome Analysis - 2 karyotypes & Interpretation Structural and numerical abnormalities involving chromosomes are important for both diagnostic and prognostic information regarding any type of cancer. Chromosome analysis for hematological disorders of bone marrow is performed to identify specific chromosome rearrangements. These rearrangements in neoplastic cells are often correlated to specific types of leukemia or myelodysplasias. This information aids the clinician in diagnosis, predicting prognosis, and guiding treatment. 46,XX normal female; 46,XY normal male
 
27 Chromosome Analysis: Cytogenetics Cytogenetics- Chromosome Breakage 88237(1), 88248(1), 88249(1), 88291(1) Cell Culture, Chromosome Analysis - 2 karyotypes & Interpretation Used to assess patients for inherent chromosome instability disorders. Diseases include Fanconi anemia, Bloom's syndrome, Ataxia telangiectasia, and others. Chromosome instability and breakage is linked to conditions such as Fanconi anemia, Bloom syndrome and other clinical diseases. 46,XX normal female; 46,XY normal male
 
30 Chromosome Analysis: Cytogenetics Cytogenetics- Products of conception 88233(1), 88262(1), 88291(1) Cell Culture, Chromosome Analysis - 2 karyotypes & Interpretation Chromosomal studies on tissue from spontaneous or elective termination of pregnancy, fetal death, stillbirth, or perinatal death to determine any inherited chromosomal abnormalities. Chromosome analysis on first trimester products of conception shows a high incidence of chromosome abnormalities. In addition, chromosome abnormalities are found in about three percent of stillborn infants. Chromosome studies are indicated in a fetus with congenital malformations. Due to the unique nature of genetic testing, patients should receive pre- and post- test counseling. Informed consent is recommended. 46,XX normal female; 46,XY normal male
 
84 Chromosome Analysis: Cytogenetics Peripheral Blood – Chromosome Analysis, Sister Chromatid Exchange 88230 (2), 88262* (1), 88280 (1), 88245 (1), 88291 (1) Cell Culture, Chromosome Analysis, & Interpretation Chromosome analysis of peripheral blood using advanced culturing techniques that allow differentiation of chromosomal sister chromatids. Genetic diseases, such as Bloom syndrome, can show an increased frequency of sister chromatid exchange. The SCE procedure can be used to diagnose inherited disease, such as Bloom Syndrome, or assay DNA damage in cases of exposure to mutagens. 46,XX normal female; 46,XY normal male
 
85 Chromosome Analysis: Cytogenetics Peripheral Blood – Chromosome Breakage Syndrome Analysis 88230 (2), 88280 (1), 88248 (1), 88249 (1), 88291 (1) Cell Culture, Chromosome Analysis, & Interpretation Chromosome analysis of peripheral blood using advanced culturing techniques that allow differentiation of chromosomal instability and breakage. Genetic diseases, such as Fanconi anemia, can show an increased frequency of chromosome breakage. Chromosome instability and breakage is linked to conditions such as Fanconi anemia, Bloom syndrome and other clinical diseases. 46,XX normal female; 46,XY normal male
 
81 Chromosome Analysis: Cytogenetics Peripheral Blood – Neoplastic Chromosome Analysis 88237 (1), 88264* (1), 88280 (2), 88291 (1) Cell Culture, Chromosome Analysis, & Interpretation Chromosome analysis of leukemic blood to decipher the etiology of hematologic disease. Diseases include myelodysplasias, acute leukemias, chronic leukemias, lymphomas, and myeloproliferative disorders. Chromosome analysis for hematological disorders of bone marrow is performed to identify specific chromosome rearrangements. These rearrangements in neoplastic cells are often correlated to specific types of leukemia or myelodysplasias. This information aids the clinician in diagnosis, predicting prognosis, and guiding treatment. 46,XX normal female; 46,XY normal male
 
86 Chromosome Analysis: Cytogenetics Peripheral Blood – Non-neoplastic Chromosome Analysis 88230 (1), 88262* (1), 88291 (1) Cell Culture, Chromosome Analysis, & Interpretation Chromosome analysis of peripheral blood to determine the constitutional nature of genetic abnormalities. Indications for test include infertility, spontaneous abortion, or suspect genetic syndrome. Chromosome analysis on peripheral blood specimens may be performed for several indications: multiple congenital anomalies in a patient, couples with stillbirths or multiple spontaneous miscarriages, individuals with ambiguous genitalia, infertility, or amenorrhea, patients with a family history of a chromosome rearrangement, patients with mental retardation or developmental delays, individuals with a suspected chromosomal syndrome, families with an X-linked pattern of mental retardation. Due to the unique nature of genetic testing, patients should receive pre- and post- test counseling. Informed consent is recommended. 46,XX normal female; 46,XY normal male
 
82 Chromosome Analysis: Cytogenetics Solid Tumor Chromosome Analysis 88239 (1), 88264* (1), 88280 (2), 88291 (1) Cell Culture, Chromosome Analysis, & Interpretation Chromosome analysis of solid tumors provide an endpoint for the precise tumor etiology. Tumor tissue is disaggregated and cultured under short-term conditions to provide adequate numbers of metaphase cells for comprehensive cytogenetic analysis. Indications for test include: lymphoma, sarcoma, undifferentiated neoplasms. Chromosome abnormalities are associated with certain tumors: Ewing sarcomas, rhabdomyosarcomas, and other difficult to diagnose soft tissue tumors. 46,XX normal female; 46,XY normal male
 
88 Chromosome Analysis: Cytogenetics Tissue Chromosome Analysis – Non-neoplastic disorders 88233 (1), 88262* (1), 88291 (1) Cell Culture, Chromosome Analysis, & Interpretation Chromosome analysis of tissue (skin, etc.) may be helpful in defining constitutional chromosome abnormalities and/or defining tissue mosaicism. Chromosome analysis for non-neoplastic tissues, including skin, products of conception, fetal tissue. 46,XX normal female; 46,XY normal male