Normal range: Negative
Comment: Autosomal recessive aminoacidopathy due to phenylalanine hydroxylase (³97% cases) or biopterin (folic acid constituent) cofactor deficiencies. Detection by low cost dried blood spot screening can result in early treatment, intended to prevent mental retardation
Sample: Urine
Normal range: Therapeutic range: 15-40 mg/mL
Comment: Phenobarbital is used in the treatment of epileptic seizures and control convulsions caused by poisoning or fever. Side effects include nausea, vomiting, anorexia and dizziness. It is important to monitor Phenobarbital in children primarily for reasons of non-compliance and interactions with other drugs
Sample: serum
(Phenyl alanine (Quantitative
:Normal range
Blood, umol/L*
Newborn: 40-140
Infants: 40-100
Children: 40-75
Adults: 40-75
Urine, umol/L*
Infants: < 46
Children: < 89
Adults: 44-220
Comment: Look amino acid in plasma & urine
Sample: 24 hr urine, spot urine, plasma, (lithium heparin) separate immediately
:Normal range
Newborns (< 2 months) : Arterial 7.32-7.49
2months- 2years : Arterial 7.34-7.46
2years & Adult : Arterial: 7.35-7.45, venous 7.32-7.43 <
Comment: The measurement of pH is used to diagnosis acidosis (e.g., ketoacidosis) and alkalosis (e.g., emesis with loss of gastric juice, and to evaluate acid base balance, to assess significance of serum or plasma potassium levels (e.g., in hypokalemia); and in interpretation of oxyhemoglobin dissociation curves. It may be useful for assessment of birth asphyxia in the depressed new born
Sample: Heparin, Whole blood
Comment: Used for IVF cases to detect certain chromosomal aberration and embryo sex before implantation in uterus
Sample: Blastomere
Products of conception-
Comment: Detect chromosomal aberration in aborted fetus
Sample: Sample in sterile saline
Skin karyotype-
Comment: Detect chromosomal aberration in fetus, still birth and new born
Sample: Sample in sterile saline
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
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
-1
:Histopathology
Comment: Histopathologic diagnosis; distinguish benign from malignant entities when possible; evaluate extent of lesions, adequacy of resection, provision of classification and, when appropriate, grading in the case of tumors
Sample: Fresh tissue, tissue fixed in formalin or other appropriate fixative. Each specimen from a different anatomic site must be placed in separate, correctly labeled container
-2
:(Bone marrow (aspiration +biopsy
Comment: Evaluation of cellularity, morphology of erythroid, myeloid, lymphoid monocytic /macrophage precursors and Megakaryocytes; maturation of the precursors of each of these cell lines; and erythroid: myeloid ratio. Establish decrease or increase in any of these cell lines. Abnormal representation /infiltration of the bone marrow by any of these cell lines or cells foreign to Quantify iron status by Perl’s stain and establish presence /absence of ring sideroblasts. Examine for the presence of infectious organisms in the bone marrow (e.g., histoplasmosis, various mycobacterial species, Cytomegalovirus, Parvovirus inclusions involving erythroid precursors). In general, a bone marrow examination can be omitted in uncomplicated iron deficiency anemiawhen serum ferritin levels are reduced below 20 mg/L, serum transferrin receptor levels are raised above normal, or the transferrin level/TIBC is raised along with concomitant reduction in the fasting serum iron level < 55mg/dL and resultant transferrin saturation is reduced to < 18%. Repetitive bone marrow examination are valuable for assessment of response to therapy in cases of hematologyical malignancies (e.g., acute leukemias, lymphomas, multiple myeloma, as well as nonhematological malignancies, e.g., Ewing sarcoma, carcinoma. Evaluation of response to therapy may include examination of cytogenetic abnormalities and quantification of abnormal metaphases (e.g., chronic myeloid leukemia). The number of Philadelphia positive metaphases or the number of bcr-abl transcrips noted on performing FISH or PCR are invaluable markers of response to therapy. Similarly, FISH and PCR are invaluable in determining minimal disease in acute progranulocytic leukemia
-3
:(Cytology (body fluid
Comment: Cytopathology is the study of a alterations with individual cells reflective of changes within their environment. Examination of such alterations at the cellular, as well as molecular +level, allows the diagnosis of a wide range of benign preneoplastic and malignant conditions. Like all morphologic studies, clinical and radiologic findings are of inestimable value in the accurate diagnosis of cytologic specimens. In addition, proper specimen procurement is absolutely essential for reliable interpretation
Sample: body fluid in plain tube or on slide
-4
:Frozen
Comment: Establish rapid histopathologic diagnosis of the presence and nature of a pathologic process, provision rapid intra operative diagnosis to support immediate intra operative decisions
Sample: Fresh tissue with no added fixative or fluid rapidly brought to the pathology laboratory
-5
:(Imunofluorescence test on the skin biopsy (IgG, IgA, IgM, C3, C4
:Comment
(Sample: Tissue sections, (Paraffin blocks
-6
:(Kidney biopsy (+ IF
Comment: For glomerulonephritis. Ig can be performed on paraffin
Sample: Formalin + saline
-7
:Muscle biopsy + enzymes
Comment: To detect myopathies, dystrophies and neuropathies
Sample: Pad of Gauze moistened with normal saline in petri dish
-8
:PAP smear
Comment: Screen for dysplasia or infections
Sample: cells on Slide
-9
:(Skin biopsy (+IF
Comment: For different bullous lesion and autoimmune conditions
Sample: specimen in Formalin + saline
-10
:FNA of testis
Comment: Detect sperms in 10 sites. More sensitive and specific than open biopsies
Sample: on slides
Normal range: Negative
Comment: Parvovirus B 19 has a high affinity for the erythroid precursor cells of the bone marrow, which it infects and destroys. 90% of all aplastic anemia are caused by B19; it can also cause erythema infectiosum (fifth disease). Although it is usually harmless in children, infections in adults especially women it affects the joints, fetal edema or fetal death in sever anemias during pregnancy
Sample: Serum
Normal range: 26-35 seconds
Comment: T screen the integrity of the intrinsic pathway of coagulation (factors VIII, IX, XI, and XII) and to a lesser extent the common pathway (fibrinogen and factors II, V, and X). May detect lupus anticoagulants, but the PTT should not be used to screen for lupus anticoagulants because the PTT may or may not be prolonged (depending on the reagents). Also used to monitor
Sample: Citrated plasma
Normal range: Negative
Comment: Human Parainfluenza viruses have been isolated throughout the world. They are known to cause a wide variety of both lower and upper respiratory infections. This group of viruses also routinely causes otitis media, pharyngitis, conjunctive, and common cold. All four types of human parainfluenza viruses can reinfect individuals throughout their lives. Thus, immunity does not confer life time protection
Immunohistochemistry for this marker has emerged as a valuable diagnostic aid in the diagnosis of CIN (cervical dysplasia). It has proven benefit in distinguishing high-grade cervical dysplasia from
its benign mimics such as cervical atrophy, immature squamous metaplasia, reactive inflammatory lesions, and radiation induced changes. Overexpression of p16 is a useful biomarker of HPV related carcinogenesis. P16, when it is positive in low grade CIN, can predict its progression to higher CIN grade
Sample: unstained slide from cervical swab