Author Archives: د.حسام أبو فرسخ

Normal range: Negative

Comment: Myocarditis can be a fatal disease and can be caused by several viruses and bacterial disease. Its exact diagnosis, in many instances, can help in the treatment. The Myocarditis profile contains a list of viruses and bacteria that can cause Myocarditis

:The list includes the followings

Mumps virus-

Adenovirus type 3-

(Influenza virus type A (H1N1-

(Influenza virus type A (H3N2-

Influenza virus type B-

Parainfluenza virus type 1-

Parainfluenza virus type 2-

Mycoplasma pneumonia-

CMV-

Coxsackie virus type B1-

Coxsackie virus type A16-

Echo virus type 7-

(Borrelia afzelii (a cause of Lyme disease in Asia and Europe-

(Borrelia burgdorferi (a cause of Lyme disease in US-

(Borrelia garinii (a cause of Lyme disease in Asia and Europe-

Chlamydia pneumonia-

Sample: serum

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Dementia-

ApoE (blood or buccal smear
Anti-GAD

Hearing loss-

Connexin26 DNA sequencing Test*

Mental Retardation-

Chromosome analysis
Fragile X chromosome

Motor Neuron disease-

Familial Amyotrophic Lateral Sclerosis (SOD1) DNA test
Spinal Muscular atrophy (SMA) (including (Werdig-Hoffman disease; Kugelberg-Welander Disease ) DNA test

Movement disorders-

(Ataxia profile (without Friedreich’s Ataxia test

       SCA1. SCA2. SCA3 (MJD), SCA7, SCA8 DNA Tests

Ataxia profile with Friedreich’s Ataxia test   SCA1. SCA2. SCA3 (MJD), SCA7, SCA8, Friereich’s Ataxia test DNA Tests

Friedreich’s Ataxia DNA test

Neuromuscular disease-

(Duchenne/Becker Muscular Dystrophy DNA carrier Test (female only
(Duchenne/Becker Muscular Dystrophy DNA carrier Test (male only
(Duchenne/Becker Muscular Dystrophy DNA carrier Test (chorionic villi or amniocentesis
Myotonia Dystrophy DNA test

Carnitine free and total-

Paraneoplastic syndrome-

Anti-neuronal antibody: Hu, Ri,Yu*

Chorea-

Huntington Chorea

:Normal range

Blood, umol/L*

Newborn: 50-260 

Infants: 50-230

Children: 50-200

Adults: 40-200 

Urine, umol/L*

Infants: < 11

Children: < 14

Adults: < 44

Comment: Look amino acid in plasma & urine

Sample: 24 hr urine, spot urine, plasma, (lithium heparin) separate immediately

Normal range: 8.9-46.7 ng/ mL

Comment: Level increases increase as result of skin exposure to sun. Low levels found in Vitamin D deficient patients particularly elderly or institutionalised. Also reduced in nephrotic syndrome, advanced liver failure, chronic liver disease and in malabsorption

Sample: Serum, fasting, separate in glass tube

Normal range: Negative

Comment: Identify GI bleeding, especially from occult neoplasm. False positive results may follow ingestion of red meat, gum bleeding, and iron intake

Sample: Stool

(Normal range: < 9.0 IU/L (< 0.15 mkat/L

Comment: Help decide whether a raised alkaline phosphatase level is due to liver or bone disease, 5-Nt is raised in cholestatic disease but is normal in bone disease. Also is raised in hepatic carcinoma, Hepatobiliary disease, early biliary cirrhosis and in 3rd trimester of pregnancy. Values are high in infants, decline in adolescents and increase again in the elderly

Sample: Serum

Normal range: Up to 17 ng/mL

Comment: NSE has no established role in screening for, or early detection of, neoplastic disease. Some investigators have found that, in patients with small cell lung carcinoma, NSE measured after the first cycle of chemotherapy is useful as an early and independent predictor of complete response and survival. In a study of 770 patients with small cell lung carcinoma treated in 9 centers, NSE has been used, together with disease stage and performance status, in a formula to calculate a prognostic index. Investigators from the National Cancer Institute in Milan have found serum NSE useful as in treatment monitoring and prognosis assessment in patients with neuroblastoma

Sample: serum

Normal range: Negative

Comment: This test provides for the rapid detection of N. gonorrhoeae in a wide variety of clinical specimens. The sensitivity of the test exceeds that for culture and other non-molecular assays

Sample: Urine, patient not urinated previous 2hr

Nor- adrenaline: See Catecholamines

Normetanephrine: See Metanephrine

:Normal range

Phagocytic phase   : > 20%

Resting phase        : <10%

Comment: For the diagnosis of chronic Granulomatousdisease (CGD), a heterogeneous disorder of phagocytes to kill ingested microorganisms, thus predisposing patients to sever, recurrent pyogenic infections

(Sample: EDTA (Whole blood

Normal range: Negative

Comment: Increased in serum from muscle disease or trauma and within a few hours of myocardial infarction for which it provides a very early marker

Sample: Serum, urine