Molecular Test

Adult Polycystic Kidney Disease DNA detection

Adult Polycystic Kidney Disease
Test
DNA detection

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
Indication
dominant polycstic disease. Test is required for prenatal diagnosis in couples
known to be carriers of the recessive form of polycystic kidney disease.

Autosomal dominant polycystic kidney disease is common fatal inherited disorder

which approximately 1 in 1000 people. Polycystic kidney disease is characterised
Physiology by progressive increase and enlargement of numerous fluid filled renal cysts.
Cysts are present in spleen, liver, pancreas, spleen, subarachnoid space and
pineal gland.

Sample Laboratory generally provides an interpretive report.

Test
Southern blotting technique.
Method

Related
Blood, amniotic fluid, chorionic villus, tissue
Tests

Molecular Test

Amniotic fluid, chromosome & genetic abnormality analysis

Test Amniotic fluid, chromosome & genetic abnormality analysis

prenatal detection of chromosome abnormalities, especially Down syndrome

Indication
, in groups of pregnant women at risk.

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

22 sets of normal autosomal chromosomes and normal number and appearance

Sample
of sex chromosmes.

Test Method cell culturing, harvesting and chromosome analysis

Related
Amniotic fluid
Tests
 Molecular Test

bcl-2 Gene rearrangement

Test bcl-2 Gene rearrangement

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
Indication 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.

The protein coded for by the oncogene bcl-w, acts by suppressing the cell death
program or apoptosis. Apoptosis occurs in all cells but is especially important in
Physiology immune and hematopoietic cells which has a high cell turnover rate. When bcl-w
gene is overexpressed it will prevent apoptosis and causes cells resistant to cell
death by therapy

Gene rearrangement for leukemia and lymphoma, polymerase chain reaction, T

Interpretation
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

Molecular Test

Breakpoint cluster region rearrangement in CML

Test Breakpoint cluster region rearrangement in CML

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

CML is characterised by reciprocal translocation between chromosomes 9 and

22 producing the philadelphia chromosome. The translocation involves a gene
Physiology
rearrangement of the breakpoint cluster region gene located on chromosome 22
with c-abl oncogene on chromosome 9.

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

Interpretation Chromosome analysis, Polymerase chain reaction

Sample No rearrangement observed

Test Method Nucleic acid technology

Related Tests Blood, bone marrow

Molecular Test
 Chlamydia trachomatis DNA probe
Test Chlamydia trachomatis DNA probe

This test provides rapid detection of C. trachomatis in clinical specimens. Many

Indication
of the sexually transmitted disease remain undetected in asymptomati carriers.

detection of C. trachomatis Dna provides diagnostic

Normal Range
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

Molecular Test

Chromosome analysis
Test Chromosome analysis

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

Sample Interpretation is provided with the report

Test
Lymphocyte culture
Method

Related
Whole blood, bone marrow
Tests

Molecular Test
 Chromosome In Situ Hybridization
Test Chromosome In Situ Hybridization

Insitu hybridization of chromosomes is useful in prenatal diagnosis of

Indication chromosomal abnormalities - trisomies, Turner's syndrome. Detection of
Aneuploidy in Tumor metaphases, extra chomosomes,

Chromosome in situr hybridization is the use of labeled nucleic acid probes to

Physiology
detect DNA targets in metaphase chomosome spreads or interphase nuclei.

Sample Normal chromosome number

Test Method DNA hybridization

Related
Specimen depends on the chromosome analysis required
Tests

Molecular Test

Cystic Fibrosis DNA detection

Test Cystic Fibrosis DNA detection

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

Cystic fibrosis is inherited as an autosomal recessive disorder. The gene

Physiology responsible for the disease has recently been identified and was found to have
250 kilobases and codes for a protein that contains 1480 aminoacids.

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

Molecular Test

DNA banking
 DNA banking
Test

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
Indication
for future diagnostic
testing.

Test
DNA isolation
Method

Related
Whole blood, tissue, cultured cells
Tests

Molecular Test

Duchenne/Becker Muscular Dystrophy DNA detection

Test Duchenne/Becker Muscular Dystrophy DNA detection

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

Duchennes muscular dystrophy is the most common childhood dystrophies, is a

severe crippling muscle disorder. Becker muscular dystrophy is a milder form
Physiology
with a similar clinical course followed at a much slower rate. The protein
responsible for the dystrophy is a muscle cytoskeletal protein

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

Molecular Test
 Fragile X DNA detection
Test Fragile X DNA detection

Genetic studies can be done to determine the presence of fragile X mental

Indication retardation. The test is indicated for a family with a history of fragile X
syndrome.

Fragile X syndrome is the most common form of inherited mental retardation in

Physiology
humans. It is characterised by mental retardation, and facial dysmorphy.

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

Molecular Test

Gene Rearrangement for Leukemia and Lymphoma

Test Gene Rearrangement for Leukemia and Lymphoma

Gene rearrangement may be used tosupplement and complement histopath

Indication
diagnosis of lymphoid leukemia and lymphomas.

Normal Determining whether T or B cell gene rearrangments exist in lymphod

Range neoplasms.

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

Test Method Southern blotting technique.

Related
whole blood
Tests

Molecular Test
 Hepatitis B DNA detection
Test Hepatitis B DNA detection

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

Chronic viral hepatisis is due to infection of human hepadna virus. Infection may
Physiology
result in long term carrier state of either mild to severe chronic liver disease.

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

Sample No HBV viral DNA detected.

Test Method Slot blot DNA hybridization entities

Related
Serum Plasma, liver tissue
Tests

Molecular Test

Human Immunodeficiency Virus DNA Amplification

Test Human Immunodeficiency Virus DNA Amplification

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

Human Immunodeficiency virus (HIV) is the causative agent of acquired

immune deficiency syndrome (AIDS). HIV contains an RNA genome that will
incorporate into host DNA and the host cells immune system is depleted. The
Physiology
testt detects the incorporated viral genome, the DNA is amplified and the
amount of DNA within the HIV genome and the amplified DNA is detected by
specific binding to an HIV probe.

Interpretation Polymerase chain reaction, Viral culture.

Sample No HIV viral DNA detected in blood.

Test Method Polymerase chain reaction and blottting.

Related Tests Blood

Molecular Test
 Identification DNA Testing
Test Identification DNA Testing

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

The genetic material of humans is highly polymorphic and an individual's

genotype will represent a unique pattern that determines that persons identity
Physiology
and heredity. The only exception are identical twins as they have same DNA
profile.

Dna identification can be used for many applications such as paternity

Normal
identification, identification of military casualities, immigration dispute, sexual
Range
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

Molecular Test

Lyme disease DNA detection

Test Lyme disease DNA detection

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

Transmission of B. burgdorferi to humans occur primarily by infected tick bite.

Physiology Symptoms appear after antibiotif treatment and may cause chronic progressive
encephalomyelitis, chronic severe arthritis, cardiac manifestations.

The diagnosis of Lyme disease is difficult by serological tests but detected by

Normal Range DNA based tests. This tests 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

Molecular Test
 Mycobacteria - DNA probe
Test Mycobacteria - DNA probe

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

Infections caused by Mycobacterium tuberculosis as increased dramatically in

Physiology the last few years. Mycobacteria are aerobic rod shaped bacteria and are acid
fast bacteria.

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

Sample No mycobacteria DNA detected.

Test Method DNA hybridization

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

Molecular Test

Mycoplasma pneumoniae - DNA test

Test Mycoplasma pneumoniae - DNA test

Rapid detection of Mycoplasma pneumoniae in clinical specimens from

Indication
respiratory sites.

M. pneumoniae causes a wide range of respiratory infections. These range from

Physiology
mild infection to severe pneumonia.

Normal Culture isolation of M. pneumoniae is tedious, laborous and takes several

Range weeks, DNA detection is specific and sensitive.

Sample No Mycoplasma pneumoniae DNA

Test Method rRNA detection

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

Molecular Test
 N-myc Amplification
Test N-myc Amplification

In Neuroblastomas, N-myc amplification is associated with poor prognosis and

Indication
rapid tumor progression

Neuroblastoma was the first human tumor in which an increased number of

copies of a specific oncogene (N-myc) correlated with progression of disease.
Physiology
Patients with amplification of the N-myc oncogene has a worse prognosis than
patients whose tumors have a single copy of N-myc gene.

Increased copy number of N-myc in neuroblastoma is predictive of poor

Normal
prognosis. Thus the determination of N-myc copy number provides information
Range
that has prognostic significance.

Sample Laboratory generally provides an interpretive report.

Test Method Hybridization technique

Related
Tissue from neuroblastoma
Tests

Molecular Test

Neisseria gonorrhoeae DNA Test

Test Neisseria gonorrhoeae DNA Test

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

Indication
specimens.

The disease is manifest as acute urethritis in males and as cervicitis in female.

Physiology
N. gonorrhoeae can be isolated from asymptomatic females.

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

Molecular Test
 Polymerase chain reaction
Test Polymerase chain reaction

The polymerase chain reaction is a new technique developed in molecular

biology. The use of PCR in laboratory include prenatal diagnosis of sickle cell
Indication anemia, hemophilia, cystic fibrosis, and muscular dystrophy, as well as
oncogene activation in the case of lymphoma and chronic myelogenous
leukemia.

The PCR technique permits a millionfold amplification of small pieces of DNA in

several hours. The amplification is performed by multiple cycles of DNA
polymerizing enzyme in the presence of known sequences. The procedure is
Physiology
automated with programmable heating blocks tocycle the reaction automatically.
The technique has unprecedented sensitivity, being able to use small quantiity
of DNa and to amplify the DNA from a single cell.

bcl-2 gene rearrangement, Chlamydia trachomatis DNA probe, Muscular

Interpretation
dystrophy, HIV-1 serology

Test Method PCR technique

Related Tests Depends upon the amplification required.

Molecular Test

Sex chromatin test

Test Sex chromatin test

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

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

Related
Scrape from buccal mucosa
Tests