CHOLESTEROL- ESTERIFIED

Erased test in CIC Catalog

Test Code: 318

Discontinued for technical reason and decrease in demand.

CITRULIN, PLASMA

Modification Units and Reference values

Test code: 3287

PREVIOUS Units and Reference values	CURRENT  Units and Reference values
2.8 - 13.1 mg/L	19 - 33 µmol/L

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MOLECULAR STUDY GENE SRY (SEQUENCING), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4018

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	18 days
Information:
The testicular development in karyotypes 46XX is characterized by the presence of maleness in a 46XX individual. The Mullerian structure is absent and 80% of cases occurs in puberty small testes, gynecomastia, and azoospermia. This disease is due to the presence of the SRY gene coding for sex determination in the Y chromosome.

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MOLECULAR STUDY SYNDROME OF NOONAN (RAF1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4019

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	34 days
Information:
Noonan syndrome (NS) is characterized by short stature; congenital heart defect; broad or webbed neck; unusual chest shape, inferior pectus excavatum, and apparently low-set nipples; developmental delay of variable degree; cryptorchidism; and characteristic facies. Varied coagulation defects and lymphatic dysplasias are frequently observed. Congenital heart disease occurs in 50-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20-50% of individuals. Hypertrophic cardiomyopathy, found in 20-30% of individuals, may be present at birth or appear in infancy or childhood. Other structural defects frequently observed include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Ocular abnormalities, including strabismus, refractive errors, amblyopia, and nystagmus, occur in up to 95% of individuals. PTPN11, KRAS, SOS1 and RAF1 are the only genes known to be associated with Noonan syndrome. Molecular genetics testing identifies mutations in the PTPN11 gene in 50%; 3%-17% in the RAF1 gene; fewer than 5% in KRAS and about 10% in the SOS1 gene.
Links:
OMIM Entry - # 611553 - NOONAN SYNDROME 5; NS5
Orphanet- Noonan syndrome
OMIM Entry - - 164760 - V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1

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MOLECULAR STUDY -BARTTER SYNDROME TYPE 3 (DELETIONS/ DUPLICATIONS GENE CLCNKB), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4015

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Patients with antenatal Bartter syndrome (type 3) often present with polyhydramnios and growth retardation and were delivered prematurely. The inability of the kidney tubules to retain salt and water results in urinary fluid loss, so polyuria is common. The resulting volume depletion increases thirst, and the normal response is to increase fluid intake. If patients cannot receive sufficient salt and water, dehydration and altered mental status can occur. In severe cases of Bartter syndrome, vomiting is not uncommon, producing further volume depletion. Inability of the kidney tubules to retain potassium, calcium, or magnesium can lead to muscle weakness, spasms, tetany, or palpitations. A few patients with severe cases of antenatal Bartter syndrome have also had mental retardation. Bartter syndrome type 1 and 2 are transmitted following an autosomal recessive pattern. They are caused by homozygous or compound heterozygous mutations in two genes encoding proteins involved in chloride reabsorption in the ascending part of Henle's loop: KCNJ1 gene (11q21-25) in type II and CLCNKB (1p36) in type III.

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MOLECULAR STUDY - MYOCLONIC TORSION DYSTONIA - DYT6 (SEQUENCING GENE THAP1), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4014

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. It has been reported in two Amish-Mennonite families. Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia. DYT6 is caused by mutations in the THAP1 gene (on chromosome 8) and is transmitted as an autosomal dominant trait. Last update: April 2009

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PURINES AND PYRIMIDINES, URINE

New Test in CIC Catalog

Test Code: 4013

Sample:	Urine (10 ml)
Conservation:	Frozen
Method:	High Performance Liquid Chromatography (LOINC®: HPLC)
Set Up Days:	Daily
TAT (Days):	12 days
Information:
a) The purine and pyrimidine synthesis are endogenous molecules which are part of the nucleic acids (DNA, RNA), nucleotides (ATP, GTP, ...) and coenzyme (NAD FAD). b. In the urine of the reference population can be observed a characteristic profile of Excretion of these molecules, in which one can appreciate the presence of creatinine, uracil, pseudouridine, uric acid, hypoxanthine, xanthine, benzoate and hippurate, although can appear multiple interference of dietary origin (fruits, jams, soft drinks, coffee, chocolate, etc..). c. In recent years several studies have described inborn errors of metabolism associated with these molecules, with very different clinical presentations: boxes of neurological (epilepsy, mental retardation and autism), immunodeficiency severe combined (T and B lymphocytes) and cellular (T lymphocytes) and lithiasis. d. In these conditions one can observe a characteristic pattern of excretion in urine.

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