GENOMIC STUDY OF PROTEASE AND RT OF HIV-1, PLASMA

Related information

Test: 2765

RELATIVE INFORMATION

1 - Make prior viral load that has to be greater than 3000 copies (prerequisite). Without viral load in these conditions is not possible to determine  2 - Centrifuge and freeze plasma within 30 minutes after extraction 3 - Avoid pre-analytical defrosting  4 - Ensure delivery of frozen EDTA plasma

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MOLECULAR STUDY - CYSTIC FIBROSIS (CFTR) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4095

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	50 days
Information:
Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. It is the most common genetic disorder among Caucasian children. The disease is chronic and generally progressive, with onset usually occurring during early childhood or, occasionally, at birth (meconium ileus). Virtually any internal organ may be involved but the principle manifestations concern the breathing apparatus (chronic bronchitis), pancreas (pancreatic insufficiency, adolescent diabetes and occasionally pancreatitis) and, more rarely, the intestine (stercoral obstruction) or liver (cirrhosis). The most common form of cystic fibrosis is associated with respiratory symptoms, digestive problems (steatorrhea and/or constipation) and staturoponderal growth anomalies. Mortality and morbidity depend on the extent of bronchopulmonary involvement. Male sterility is a constant feature. Late-onset forms, which are usually only mild or monosymptomatic, have also been reported. CF is characterized by alterations in the CFTR protein, which plays a role in the regulation of transmembrane hydroelectrolytic flux. Alterations in the protein lead to changes in the characteristics of exocrine excretions. An absence of functional CFTR in the epithelial cell membrane leads to the production of sweat with a high salt content (associated with a risk of hyponatremic dehydration) and mucus secretions with an abnormal viscosity (leading to stasis, obstruction and bronchial infection). Cystic fibrosis is a monogenic autosomal recessive disease caused by mutations in the CFTR gene (chromosome 7). More than 1250 mutations have been reported. Nearly 70% of all cases are caused by the delta F508 allele, with 30 other mutations accounting for a further 20% of cases. There is no clear correlation between genotype and phenotype. In addition to the allelic heterogeneity and the occurrence of multiple mutations in the same gene, a wide range of other factors may influence the phenotype, including the environment and disease modifying genes.
Links:
OMIM Entry - # 219700 - CYSTIC FIBROSIS; CF
Orphanet- Cystic fibrosis
OMIM Entry - - 602421 - CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

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MOLECULAR STUDY BROOKE-SPIEGLER SYNDROME (CYLD) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4093

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands. People with Brooke-Spiegler syndrome typically begin developing tumors in early adulthood. The tumors are most often found on the head and neck. They grow larger and increase in number over time. In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The tumors can be disfiguring and may contribute to depression or other psychological problems. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
Links:
OMIM Entry - # 605041 - BROOKE-SPIEGLER SYNDROME; BRSS
Orphanet- Brooke Spiegler syndrome
OMIM Entry - - 605018 - CYLD GENE; CYLD

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MOLECULAR STUDY EPIDERMOLYSIS BULLOSA SIMPLEX (EXONS 1,5,7-KRT5, EXONS 1,4-7-KRT14) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4096

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. Onset is usually in late infancy or early childhood. The usual distribution of blisters in these patients is on the palms and soles, although other skin surfaces may also blister if subjected to significant trauma. Milia and scarring are rare in localized EBS, and dystrophic nails are uncommon. Focal keratoderma of the palms and soles may occur by adulthood in some patients. The only common extracutaneous finding in localized EBS, i.e. localized intraoral erosions or blisters, tends to be asymptomatic, occurs in about one third of patients, and is usually seen only during infancy. Localized EBS is caused by mutations within either the KRT5(12q13.13) or KRT14 (17q12-q21) genes. Transmission is autosomal dominant and sporadic cases are frequent. Although the disease can be disabling, life-expectancy is normal.
Links:
OMIM Entry - # 131800 - EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
Orphanet- Localized epidermolysis bullosa simplex
OMIM Entry - - 148040 - KERATIN 5; KRT5
OMIM Entry - - 148066 - KERATIN 14; KRT14

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MOLECULAR STUDY - CYSTIC FIBROSIS (EXONS 4,11,23--CFTR) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4089

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
Cystic fibrosis is an autosomal recessive disease of epithelial ion transport generated by mutations in the transmembrane conductance regulator gene of cystic fibrosis (CFTR). It is more common in Caucasians, and among these, in northern Europeans and Canada. The characteristics commonly associated with cystic fibrosis are pancreatic insufficiency, obstructive respiratory disease, nutritional problems and reproductive problems. Cystic fibrosis usually presents in childhood, although in a few cases (4%) are diagnosed in adulthood. The gene responsible for cystic fibrosis, the CFTR, is located on the long arm of chromosome 7 (7q31.2). CFTR dysfunction affects many organs, especially to upper and lower respiratory tract, pancreas, biliary system, the intestine, male genitalia and sweat glands. It has been identified more than 1400 mutations in the CFTR gene that cause cystic fibrosis, although between 60 and 70% of the patients are carriers of the same recurrent mutation (delta F508). We recommend starting the study by exon 10, which are located 60-70% of the mutations that cause cystic fibrosis.
Links:
OMIM Entry - # 219700 - CYSTIC FIBROSIS; CF
Orphanet- Cystic fibrosis
OMIM Entry - - 602421 - CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

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MOLECULAR STUDY DARIER-WHITE DISEASE (ATP2A2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4094

Sample:	Whole blood - EDTA(2 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	35 days
Information:
Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies. Onset of the disease usually occurs around puberty. Patients present with greasy and colored (yellow-brown or brown) keratotic papules, which may be isolated or grouped forming plaques. The skin lesions often become infected and malodorous, and are responsible for major discomfort. They may be exacerbated by exposure to sunlight or artificial UVB radiation, heat, sweating, friction, and infections. The sites of predilection are the seborrheic areas of the trunk and face: upper chest, back, sides of the neck, forehead, ears, and scalp. The flexures are also frequently involved (the groins, axillae, and anogenital region). Hands and feet may also show discrete papules on the dorsal surfaces. Careful examination of the palms and soles frequently reveals small pits or punctuated keratoses that are highly suggestive, if not specific, of DD. They show the specific combination of red and white longitudinal stripes and present subungual hyperkeratosis. The hard palate, oral mucosa, esophagus, vulva and rectum may be the site of whitish small papules, often densely grouped (leukoplakia). Nail abnormalities are almost constant and highly suggestive. The nails are fragile and have a V-shaped defect. Patients have an increased susceptibility to herpes simplex and pyogenic infections. Severity of the disease is highly variable, even within the same family. DD is caused by mutations in the ATP2A2 gene (12q23-q24.1) encoding a Ca2+ pump of the endoplasmic reticulum. Transmission is autosomal dominant. The diagnosis is based on histological examination of skin lesion biopsies revealing hyperkeratosis, focal dyskeratosis and suprabasal acantholysis. Genetic counseling should be offered, although prenatal diagnosis is not appropriate in the majority of cases. Management is symptomatic. Patients should avoid sun and heat. Emollients containing urea or lactic acid are of benefit for more limited lesions. Topical application of tretinoin or isotretinoin is effective against hyperkeratosis, but the risk of irritation limits their use. Topical steroids may reduce irritation, but they are not effective when used alone. Retinoids such as tazarotene are better tolerated. In case of severe disease, acitretin (an oral retinoid) is the most effective treatment, but possible side-effects must be monitored. Depression and neuropsychological manifestations have been reported and specific psychological support may be necessary. DD runs a chronic and relapsing course. It may cause considerable social handicap.
Links:
OMIM Entry - # 124200 - DARIER-WHITE DISEASE; DAR
Orphanet- Darier disease Darier White disease
OMIM Entry - - 108740 - ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2

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MOLECULAR STUDY HYPOPHOSPHATEMIA AUTOSOMAL DOMINANT (FGF23) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4092

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	25 days
Information:
Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. During childhood, the disease manifests with short stature, rickets affecting primarily lower extremity deformities. When the disease manifests during adulthood, clinical findings include bone pain (hips, legs, neck), fatigue, muscle weakness, and repeated bone fractures. Some patients are asymptomatic throughout life, some patients alternate between affected and unaffected. The disease is caused by "activating" mutations in the FGF23 gene (12p13). ADHR is transmitted as an autosomal dominant trait with incomplete penetrance. Diagnosis is based on clinical findings, and biochemical and X-ray examination. Molecular genetic testing confirms the diagnosis. With treatment, prognosis is very good: growth is normalized and skeletal deformities can be corrected.
Links:
OMIM Entry - # 193100 - HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
Orphanet- Autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemia
OMIM Entry - - 605380 - FIBROBLAST GROWTH FACTOR 23; FGF23

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FLOURESCENTE IN SITU HIBRIDIZATION (FISH) MILLER-DIEKER SYNDROME, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4091

Sample:	Whole blood - Heparin-Na.(5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
Plazo de Entrega:	7 days

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MOLECULAR STUDY - WILLIAMS SYNDROME, BIOLOGICAL SAMPLE

New Test in CIC Catalog

Test Code: 4088

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Plazo de Entrega:	20 days
Information:
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to failure to thrive in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones. The mainstay for diagnosis is detection of the contiguous gene deletion of the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin (ELN) gene. Over 99% of individuals with the clinical diagnosis of WS have this contiguous gene deletion, which can be detected using targeted mutation analysis. In our laboratory we offer deletion analysis in the 7q11.23 region.

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AMYLOID BETA PROTEIN, CSF

Modification Reference values

Test code: 1445

PREVIOUS Reference values	CURRENT  Reference values
ABETA (BETA AMYLOID) 1-42:   >600 ng/L TAU PROTEINE:                   150 - 200 ng/L PTAU PROTEINE:                         < 50  ng/L	ABETA (BETA AMYLOID) 1-42:   >800 ng/L TAU PROTEINE:                   150 - 200 ng/L PTAU PROTEINE:                        < 50  ng/L Change in the reagents used to assay peptide Ab1-42.

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VASCULAR ENDOTHELIAL GROWTH FACTOR (VEGF), SERUM/PLASMA

Update Sample and Reference values

Test code: 1232

PREVIOUS Sample and Reference values	CURRENT  Sample and Reference values
Serum Less than  115 pg/ml	Serum/Plasma-EDTA Serum:            Less than    42.6 pg/ml Plasma EDTA: Less than  128.9 pg/ml

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MOLECULAR STUDY - ATAXIA WITH OCULOMOTOR APRAXIA TYPE 2 (SETX) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4086

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	50 days
Information:
Ataxia-oculomotor apraxia-2 (AOA2) is a form of autosomal recessive cerebellar ataxia, a clinically and genetically heterogeneous group of neurodegenerative disorders. However, because oculomotor apraxia is only an occasional feature of AOA2, Koenig (2001) urged that it not be referred to as a form of AOA. Duquette et al. (2005) also emphasized that oculomotor apraxia is not a universal finding in this disorder and suggested the name 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy-2' (SCAN2) to distinguish it from SCAN1.
Links:
OMIM Entry - # 606002 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1
Orphanet- Spinocerebellar ataxia with axonal neuropathy type 2 Ataxia oculomotor apraxia type 2
OMIM Entry - - 608465 - SENATAXIN; SETX

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MOLECULAR STUDY USHER TYPE 2A SYNDROME (USH2A) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4087

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	40 days
Information:
Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. Usher syndrome type II is characterized by hearing loss from birth and progressive vision loss that begins in adolescence or adulthood. The hearing loss associated with this form of Usher syndrome ranges from mild to severe and mainly affects high tones. Affected children have problems hearing high, soft speech sounds, such as those of the letters d and t. The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type II do not have difficulties with balance caused by inner ear problems.
Links:
OMIM Entry - # 276901 - USHER SYNDROME, TYPE IIA; USH2A
OMIM Entry - - 608400 - USH2A GENE; USH2A

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MOLECULAR STUDY CHRONIC MYELOPROLIFERATIVE SYNDROMES (W515L/K-MPL GENE), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4085

Sample:	Whole blood / Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Multiplex PCR
Set Up Days:	Daily
Plazo de Entrega:	7 days
Links:
OMIM Entry - # 601977 - THROMBOCYTHEMIA 2; THCYT2
OMIM Entry - - 159530 - MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL

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INTERLEUKIN 18 (IL18), SERUM

New Test in CIC Catalog

Test Code: 4083

Sample:	Serum (1 ml)
Conservation:	Frozen
Method:	Immunoassay (LOINC®: IA)
Set Up Days:	Daily
Plazo de Entrega:	90 days

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PRO-INSULIN INTACT, SERUM/PLASMA

Modifications and Relative information

Test code: 2491

PREVIOUS	CURRENT   Relative information
SERUM	SERUM/PLASMA (HEPARIN) Refrigerated

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TOTAL BETA-HEXOSAMINIDASE AND BETA-HEXOSAMINIDASAE A, SERUM

Modifications and Relative information

Test code: 2953

PREVIOUS	CURRENT   Relative information
LYSOSOMAL DISORDER (BETA-HEXOSAMINIDASE) STUDY, SERUM	TOTAL BETA-HEXOSAMINIDASE AND BETA-HEXOSAMINIDASAE A, SERUM Fasting. Avoid hemolysis. Before centrifuging wait clot retraction. Collect the supernatant in another tube and freeze immediately.

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CHITOTRIOSIDASE, SERUM

Modification Sample and Relative information

Test code: 1479

PREVIOUS Sample	CURRENT  Sample and Relative information
Whole blood	Serum 19 - 208 nmol/min/mL Fasting. Avoid hemolysis. Before centrifuging wait clot retraction. Collect the supernatant in another tube and freeze immediately.

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BONE ALKALINE PHOSPHATASE, SERUM

Modification Reference values

Test code: 4055

PREVIOUS Reference values	CURRENT  Reference values
MEN:                       6 - 30 µg/L WOMEN         premenopause:  3 - 19 µg/L       postmenopause: 6 - 26 µg/L	MEN:                      5.5 - 22.9 µg/L WOMEN         premenopause:  4.9 - 26.6 µg/L       postmenopause: 5.2 - 24.4 µg/L

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ALPHA GALACTOSIDASE A, SERUM

Modification Sample and Relative information

Test code: 1292

PREVIOUS Sample	CURRENT  Sample and Relative information
Not available	Serum To send the sample, previously contact with CIC to determine shipping date.

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VORICONAZOLE, PLASMA

Modification Units and Reference values

Test code: 1559

PREVIOUS Units and Reference values	CURRENT  Units and Reference values
0.5 - 1.0 mg/L	1 - 5.5 µg/mL

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