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PCR: Adenovirus

Useful for viral pneumonia

Sample: fluid or lavage

PCR: Apo E

(Useful for Alzheimer’s disease risk (E4/E4

(Useful for hypercholestermia risk (E2/E2

Sample: EDTA blood

PCR: BCR-ABL

Used for philadelphia chromosome detection

Sample: EDTA Blood

 

PCR: Chlamydia Trachomatis

Normal range: Negative

Comment: Measures viral presence. Useful for infertility, recurrent urethritis, unexplained abortion

Sample: Urine, patient not urinated previous 2hr

 

(PCR: CMV by PCR (Quantitative

Normal range: Negative

Comment: The detection of CMV DNA is useful to identify patients in whom appropriate therapy could be instituted, including ganciclovir or immune globulin. Quantitative assays maybe useful to establish disease risk and to monitor CMV levels after therapy

Sample: EDTA blood

PCR: Ducchenne muscular dystrophy

Gene mutation for 14 exons. For males and female carriers

Sample: EDTA blood

 

(PCR: HBV (Qualitative

Normal range: Negative

(Comment: Measures viral presence. See Hepatitis B Virus (Qualitative) (by PCR

Sample: Serum

 

(PCR: HBV (Quantitative

Normal range: Negative < 250

(Comment: Measures viral load. See Hepatitis B Virus (Quantitative) (by PCR

Sample: serum

 

(PCR: HCV-RNA (Quantitative

Normal range: Negative < 600

(Comment: Measures viral load. See Hepatitis C Virus- RNA (Quantitative) (by PCR

Sample: EDTA Plasma

 

(PCR: HCV-RNA (Qualitative

Normal range: Negative

(Comment: Measures viral presence. See Hepatitis C Virus- RNA (Qualitative) (by PCR

Sample: EDTA Plasma

 

PCR: Hemochromatosis Gene

Homozygosity for a single point mutation (C282Y) in exon 4 is observed . In addition, compound heterozygotes for C282Y and one of two other common mutations (H63D, S65C) within exon 2 are at increased risk for developing Hemochromatosis

Sample: EDTA Plasma


(PCR: HIV-1-RNA (Quantitative

Normal range: Negative

Comment: Measures viral load

Sample: EDTA Plasma

 

(PCR: Human papilloma virus (qualitative and genotyping

Important for documenting virus presence and type of virus for further work up in cervical dysplasia

 

PCR: Mycobacterium tuberculosis

Normal range: Negative

Comment: For all mycobacteria common 16 species. Important when T.B symptoms present but test for T.B negative

Sample: Sputum, Bronchial wash. Urine early morning

 

PCR: Nisseria gonorrhoeae

Normal range: Negative

Comment: Important for recurrent attacks while on antibiotics

Sample: Urine, patient not urinated previous 2hr

 

PCR: B-Thalassemia

Normal range: Negative

Comment: Gives a qualitative determination of 8 mediterranean b– thalassemia mutations, which include CD39, CD6-A, 87 (C-G), and five RNA processing mutant classes. Clinical symptoms include pronounced microcytosis, hypochromia, low MCV, and MCH

Sample: 5 ml whole blood EDTA tube Don’t Separate

 

(PCR: Activated protein C resistance. (Factor V leiden

Normal range: Normal

Comment: Protein C is an anticoagulant protein synthesized in the liver. Resistance to activated protein C (APC) is a common inherited thrombophilia that accounts for up to one-half of inherited thromboses. The molecular defect responsible for the vast majority of cases of APC resistance is a highly conserved point mutation (G506A) in the factor V molecule, known as Factor V Leiden. This test detects heterozygous and homozygous mutations

Sample: 5 ml whole blood EDTA tube, Don’t Separate

 

PCR: Alpha-Thalassemia

Normal range: Negative

Comment: Alpha thalassemia is generally due to gene deletion of various lengths, which results in underproduction of the α- globulin chains that make up hemoglobin molecules. Characteristic traits include marked anemia, poikilocytosis, erythroblastosis or fetal death

Sample: 5 ml whole blood EDTA tube, Don’t Separate

 

(PCR: Familial Med. Fever (FMF

Normal range: Negative

Comment: FMF is an autosomal recessive disease. A positive heterozygous result indicates a carrier. The disorder is clinically characterized by recurrent, short, self-limited attacks of fever accompanied by sever abdominal pain due to inflammation of the abdominal cavity, episodes of unprovoked inflammation involving the joints, the pleural and peritoneal cavities, and less frequently the skin. Some patients develop amyloidosis

Sample: 5 ml whole blood EDTA tube, Don’t Separate

 

PCR: Factor II mutation by PCR 

Normal range: Normal 

Comment: The factor II prothrombin G20210A mutation is a common genetic risk factor for thrombosis and is associated with elevated prothrombin levels. Although homozygosity is rare, inheritance of two 20210A alleles would increase the risk for developing thrombosis. If a patient is heterozygous for both the thrombin G20210A and the factor V leiden mutation, the combined heterozygosity leads to an earlier onset of thrombosis and tends to be more sever than single – gene heterozygotes

Sample: 5 ml whole blood EDTA tube, Don’t Separate

 

PCR: Herpes simplex virus by PCR

Normal range: Negative

Comment: Useful for rapidly identifying active infection with HSV. Untreated, herpes encephalitis and neonatal herpes are fatal, or cause sever morbidity in a majority of patients. Neurologic sequelae are Common. PCR is considered the mosdt reiable means of precision of a laboratory diagnosis of CNS HSV, but vide infra. Most HSV encephalitis is caused by HSV type1. HSV meningitis is more frequent than is HSV encephalitis, and usually is caused by type 2. Recurrent HSV meningitis maybe responsible for most instances of recurrent lymphocytic meningitis

Sample: 5 ml whole blood EDTA tube, Don’t Separate

 

PCR: Y- Chromosome microdeletions by PCR

Normal range: Negative

Comment: This test provides a rapid method for detection of specific regions (AzFa, AZFb, AZFc) of the human Y chromosome to assist in the determination of the genetic basis for oligospermia or azoospermia. The test detects 18 different Y chromosome deletions that have been associated with male infertility. These include DAZ, SPGY, DYS209, and DYS275. Azoospermia may also be associated with Kleinfelter’s syndrome or cystic fibrosis mutations

Sample: 5 ml whole blood EDTA tube, Don’t Separate