Molecular Test

Adult Polycystic Kidney Disease DNA detection

Test Adult Polycystic Kidney Disease DNA detection

Indication This test can detect DNA linkage association with major genetic mutation. The test can indicate can help in early detection in a family with history of autosomal dominant polycstic disease. Test is required for prenatal diagnosis in couples known to be carriers of the recessive form of polycystic kidney disease.

Sample Laboratory generally provides an interpretive report.

Test Method Southern blotting technique.

Related Tests Blood, amniotic fluid, chorionic villus, tissue

Amniotic fluid, chromosome & genetic abnormality analysis

Test Amniotic fluid, chromosome & genetic abnormality analysis

Indication Prenatal detection of chromosome abnormalities, especially Down syndrome, in groups of pregnant women at risk.

Normal Range Prenatal diagnosis is possible for more than 1000 inherited diseases, including inborn errors of metabolism.

Sample 22 sets of normal autosomal chromosomes and normal number and appearance of sex chromosmes.

Test Method Cell culturing, harvesting and chromosome analysis

Related Tests Amniotic fluid

bcl-2 Gene rearrangement

Test bcl-2 Gene rearrangement

Indication bcl-2 oncogene codes for a unique protein that is located in the mitochondira of the cell. The bcl-w protein regulates cell death and when it is over expressed the cell is resistant to the natural death cycle. The test detects bcl-2 rearrangement in B-cell lymphomas. The bcl-2 rearrangement is found in follicular lymphomas, large diffuse B-cell lymphomas, and undifferentiated lymphomas.

Interpretation Gene rearrangement for leukemia and lymphoma, polymerase chain reaction, T and B Lymphocyte subset assay

Sample No rearrangement of bcl-2 in the normal

Test Method Hybridization technique

Related Tests 0.1 g frozen tissue


Breakpoint cluster region rearrangement in CML

Test Breakpoint cluster region rearrangement in CML

Indication This test characterize and monitor chronic myelogenous leukemia (CML)

Normal Range Philadelphia chromosome has been found in 20% to 25% of patients with acute lymphoblastic leukemia and 2% of patients with acute myelogenous leukemia (AML)

Interpretation Chromosome analysis, Polymerase chain reaction

Sample No rearrangement observed

Test Method Nucleic acid technology

Related Tests Blood, bone marrow

Chlamydia trachomatis DNA probe

Test Chlamydia trachomatis DNA probe

Indication This test provides rapid detection of C. trachomatis in clinical specimens. Many of the sexually transmitted disease remain undetected in asymptomati carriers.

Normal Range Detection of C. trachomatis Dna provides diagnostic and advantagous over traditional culture method.

Interpretation Chlamydia trachomatis culture, Neisseria gonorrheae culture, Viral culture

Sample Negative for C. trachomatis DNA

Test Method Detects nucleic acid of C. trachomatis

Related Tests Swab collected from genitourinary site of male or female

Chromosome analysis

Test Chromosome analysis

Indication This test is used to evaluate birth defect, mental retardation, growth retardation, infertility, cryptorchidism, hypogonadism, amenorrhea, anormal genitalia, myeloproliferative diseases, chronic myelogenous leukemia, leukemic remission, neoplasia, recurrent miscarriage, downs sydndrome.

Sample Interpretation is provided with the report

Test Method Lymphocyte culture

Related Tests Whole blood, bone marrow

Chromosome In Situ Hybridization

Test Chromosome In Situ Hybridization

Indication In situ hybridization of chromosomes is useful in prenatal diagnosis of l abnormalities – trisomies, Turner’s syndrome. Detection of Aneuploidy in Tumor metaphases, extra chomosomes,

Sample Normal chromosome number

Test Method DNA hybridization

Related Tests Specimen depends on the chromosome analysis required

Cystic Fibrosis DNA detection

Test Cystic Fibrosis DNA detection

Indication The test is indicated for a family with history of cystic fibrosis, the test helps to have a complete family pedigree that includes all medical histories. It is also indicated for prenatal diagnosis in couples known to be carriers.

Interpretation Alpha fetoprotein, Chloride, Chromosome analysis, Polymerase chain reaction

Sample Laboratory generally provides an interpretive report.

Test Method DNA hybridization

Related Tests Whole blood, amniotic fluid, chorionic villus.

DNA banking

Test DNA banking

Indication Storage of DNA from individuals or tumors will be invaluable both to scientists and to individuals interested in their family history of disease. The storage of DNA is for future diagnostic testing.

Test Method DNA isolation

Related Tests Whole blood, tissue, cultured cells

Duchenne/Becker Muscular Dystrophy DNA detection

Test Duchenne/Becker Muscular Dystrophy DNA detection

Indication This test is indicated for families with history of Duchenne or Becker muscular dystrophy.

Interpretation Alpha fetoprotein, Chromosome analysis, Polymerase chain reaction

Sample Laboratory generally provides an interpretive report.

Test Method Polymerase chain reaction and Souther blotting

Related Tests Whole blood, amniotic fluid, chorionic villus

Fragile X DNA detection

Test Fragile X DNA detection

Indication Genetic studies can be done to determine the presence of fragile X mental retardation. The test is indicated for a family with a history of fragile X syndrome.

Interpretation Chromosome and genetic abnormality analysis

Sample Laboratory generally provides an interpretive report.

Test Method Southern blotting technique.

Related Tests Whole blood, amniotic fluid, chorionic villus

Gene Rearrangement for Leukemia and Lymphoma

Test Gene Rearrangement for Leukemia and Lymphoma

Indication Gene rearrangement may be used to supplement and complement histopath diagnosis of lymphoid leukemia and lymphomas.

Normal Range Determining whether T or B cell gene rearrangements exist in lymphod neoplasms.

Sample No unique rearrangement of T and B cell receptors is found.

Test Method Southern blotting technique.

Related Tests Whole blood

Hepatitis B DNA detection

Test Hepatitis B DNA detection

Indication The test aids in diagnosis of HBV and helps establish the stage of disease.

Normal Range The DNA probe assay provides a direct measure of HBV in serum or plasma and correlates with infectivity titers.

Sample No HBV viral DNA detected.

Test Method Slot blot DNA hybridization entities

Related Tests Serum Plasma, liver tissue

Human Immunodeficiency Virus DNA Amplification

Test Human Immunodeficiency Virus DNA Amplification

Indication HIV detection in patients with indeterminant HIV serology test. Patients who have shown negative HIV serology and western blot tests.

Interpretation Polymerase chain reaction, Viral culture.

Sample No HIV viral DNA detected in blood.

Test Method Polymerase chain reaction and blottting.

Related Tests Blood

Identification DNA Testing

Test Identification DNA Testing

Indication The analysis of highly polymorphic regions of human DNA can clarify the relationships between individuals and verify the identity of unknown individuals. Dna typing provides a valuable tool for establishing family relationships and associations between forensic specimens and criminal suspects.

Normal Range Dna identification can be used for many applications such as paternity identification, identification of military casualities, immigration dispute, sexual abuse and rape, criminal investigations.

Interpretation HLA typing, Paternity studies, Tissue typing

Test Method DNA polymorphism, souther blotting

Related Tests Whole blood, tissue, semen or cultured cells

Lyme disease DNA detection

Test Lyme disease DNA detection

Indication Detect the presence of DNA from spirochete Borrelia burgdorferi in patients d symptoms of Lyme disease.

Normal Range The diagnosis of Lyme disease is difficult by serological tests but detected by DNA based tests. This test is a valuable diagnostic tool for detection of Lyme disease.

Interpretation Lyme disease, Polymerase chain reaction.

Sample No B. burgdorferi DNA

Test Method DNA sequencing

Related Tests Serum plasma, Cerebospinal fluid , synovial fluid

Mycobacteria – DNA probe

Test Mycobacteria – DNA probe

Indication The test provides rapid detection of Mycobacterium species in clinical specimens.

Normal Range This ttestts improve the detection of mycobacteria, and the the test as increased sensitivity and specificity.

Sample No mycobacteria DNA detected.

Test Method DNA hybridization

Related Tests Whole blood, sputum, pleural fluid, cerebrospinal fluid, bronchial aspirates, urine and tissue biopsy.

Mycoplasma pneumoniae – DNA test

Test Mycoplasma pneumoniae – DNA test

Indication Rapid detection of Mycoplasma pneumoniae in clinical specimens from respiratory sites.

Normal Range Culture isolation of M. pneumoniae is tedious, laborous and takes several weeks, DNA detection is specific and sensitive.

Sample No Mycoplasma pneumoniae DNA

Test Method rRNA detection

Related Tests Sputum, throat swab, bronchial wash, lung biopsy

N-myc Amplification

Test N-myc Amplification

Indication In Neuroblastomas, N-myc amplification is associated with poor prognosis and rapid tumor progression

Normal Range Increased copy number of N-myc in neuroblastoma is predictive of poor prognosis. Thus the determination of N-myc copy number provides information that has prognostic significance.

Sample Laboratory generally provides an interpretive report.

Test Method Hybridization technique

Related Tests Tissue from neuroblastoma

Neisseria gonorrhoeae DNA Test

Test Neisseria gonorrhoeae DNA Test

Indication The test provides rapid detection of N. gonorrhoeae in clinical urogenital specimens.

Normal Range The Dna detection assay is sensitive and specific.

Interpretation Chlamydia trachomatis DNA probe, Neisseria gonorrhoeae.

Sample No Neisseriae gonorrhoeae nucleic acid

Test Method Hybridization technique

Related Tests Swab collected from genitourinary site of male or female

Polymerase chain reaction

Test Polymerase chain reaction

Indication The polymerase chain reaction is a new technique developed in molecular biology. The use of PCR in laboratory include prenatal diagnosis of sickle cell anemia, hemophilia, cystic fibrosis, and muscular dystrophy, as well as oncogene activation in the case of lymphoma and chronic myelogenous leukemia.

Interpretation bcl-2 gene rearrangement, Chlamydia trachomatis DNA probe, Muscular dystrophy, HIV-1 serology

Test Method PCR technique

Related Tests Depends upon the amplification required.

Sex chromatin test

Test Sex chromatin test

Indication The test confirms the presence or absence of sex chromatin and the presence or absence of fluorescent portion of Y chromosome

Sample Presence of >4% cells in which clear sex chromatin bodies are found

Related Tests Scrape from buccal mucosa

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