MOLECULAR STUDY ESTUDIO MOLECULAR FAMILIAL DYSAUTONOMIA (c.2204+6T>C, p.Arg696Pro-IKBKAP) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3854

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	20 days
Information:
Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature perception, and cardiovascular instability. FD occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. Familial dysautonomia is extremely rare in the general population. The diagnosis of FD is established by molecular genetic testing of IKBKAP. Two mutations account for more than 99% of mutant alleles in individuals with FD of Ashkenazi Jewish descent. The major founder mutation c.2204+6T>C (formerly IVS20+6T>C) is responsible for virtually all occurrences of FD among the Ashkenazim.
Links:
OMIM Entry - #223900 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Orphanet- Familial dysautonomia
OMIM Entry - -603722 - INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE COMPLEX-ASSOCIATED PROTEIN; IKBKAP

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CANDIDA ALBICANS IgG ANTIBODIES, SERUM

Modification Methodology and Reference Values

Test code: 225

PREVIOUS Methodology  and Reference Values	CURRENT Methodology  and Reference Values
Hemagglutination NEGATIVE    : Title less than 1/160 UNKNOWN :  Title equal to 1/160 POSITIVE      : Title greater than 1/160	Indirect immunofluorescence NEGATIVE    : Title 1/640

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CANDIDA ALBICANS IgM ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 3536

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	Indirect fluorescent antibody (LOINC®: IFA)
Set Up Days:	Daily
TAT (Days):	2 days

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CANDIDA ALBICANS IgG ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 225

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	Hemagglutination (LOINC®: HA)
Set Up Days:	Daily
TAT (Days):	2 days

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

New Test in CIC Catalog

Test Code: 2765

Sample:	Plasma - EDTA (2 ml)
Conservation:	Frozen
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	15 days

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DENGUE VIRUS IgM ANTIBODIES, SERUM

Modification Methodology and Reference Values

Test code: 3262

PREVIOUS Methodology  and Reference Values	CURRENT Methodology  and Reference Values
Enzyme immunoassay Negative. Ratio less than 1.00	Immunochromatography Not detected.

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DENGUE VIRUS IgG ANTIBODIES, SERUM

Modification Methodology and Reference Values

Test code: 3260

PREVIOUS Methodology  and Reference Values	CURRENT Methodology  and Reference Values
Enzyme immunoassay Negative. Ratio less than 1.00	Immunochromatography Not detected.

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

Modification Delivery Time

Test code: 2765

PREVIOUS Delivery Time	CURRENT Delivery Time
Delivery time: 20 days	Delivary time: 15 days

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HYBRIDIZATION 'IN SITU' FISH SYNDROME HYPEREOSINOPHILIA (PGFR1), WHOLE BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 3852

Sample:	Whole blood / Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
TAT (Days):	20 days

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HYBRIDIZATION 'IN SITU' FISH SYNDROME HYPEREOSINOPHILIA (PDGFRB/ETV6), WHOLE BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 3850

Sample:	Whole blood / Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
TAT (Days):	20 days

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MOLECULAR STUDY GENE PNPLA3 (POLIMORPHISM I148M) SCRENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3849

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	20 days
Information:
The accumulation of fat in the liver (fatty liver) is a disease whose prevalence is increasing worldwide, currently regarded as the leading cause of chronic liver disease. Fatty liver can occur in two clinical forms: a benign form called steatosis in which there is simply the accumulation of fat in liver without pathogenic consequences and an aggressive form called steatohepatitis which can lead to cirrhosis and even liver cancer. Steatohepatitis can occur in patients with normal transaminases. Although, as mentioned, steatosis is a benign, up to 20% of patients the disease may progress to severe forms of steatohepatitis and liver cirrhosis and therefore is clinically important to distinguish between steatosis and steatohepatitis. Recently it has been described a polymorphism in the gene PNPLA3 that is associated with liver fat levels (Hepatology 2010; 52:894-903). Carriers of the CG or GG polymorphisms are much more likely to develop a severe form of steatohepatitis and even cirrhosis, while the CC have a favorable prognosis in the evolution of the disease.
Links:
OMIM Entry - -609567 - PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3

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MOLECULAR STUDY CONGENITAL HYPOTHYROIDISM (TITF1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3848

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	29 days
Information:
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated BHC (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. The thyroid form can present with overt or, more commonly, subclinical hypothyroidism / hyper-thyrotropinemia at birth, in infancy or in early childhood. There is significant correlation between thyroid morphology (55% normal, 35% hemiagenesis or hypoplasia, and 10% athyreosis in 46 published cases) and the commonly mild elevation of thyroid-stimulating hormone (TSH). The lung form presents most commonly as IRDS at term, suggestive for congenital surfactant protein deficiency. The neurological form presents during the first year of life with hypotonia and psychomotor delay, which progresses to BHC between 1 and 5 years of age. Non-progressive BHC after the age of 5 years is the most common and specific sign of the syndrome. Additional non-classical symptoms including hypo- or oligodontia, microcephaly, intellectual deficit, failure to thrive, growth retardation, dysmorphism, hypoparathyroidism and malabsorption have been reported only in patients with large deletions on chromosome 14 including the NKX2-1 gene. Mild intellectual deficit may be present in some patients. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3).
Links:
OMIM Entry - #610978 - CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
Orphanet- Brain lung thyroid syndrome
OMIM Entry - -600635 - NK2 HOMEOBOX 1; NKX2-1

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MOLECULAR STUDY CONGENITAL HYPOTHYROIDISM (TSHR) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3845

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	34 days
Information:
Familial hyperthyroidism due to mutations in thyroid stimulating hormone (TSH) receptor is a hereditary non-autoimmune hyperthyroidism. It is characterized by the presence of signs and symptoms of hyperthyroidism and diffuse goiter without evidence of an autoimmune etiology. The incidence is unknown; at present, a few families and a few sporadic cases with a de novo TSHR mutation, mostly from Caucasian populations, have been described. The age of onset is highly variable and it may be present in infants or develop in adulthood. The size of goiter is variable and it may be minimal or absent in young patients: however, once present, continuous growth is systematically observed. Differential diagnosis is based on the absence of the typical signs of autoimmune hyperthyroidism, such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland. The diseases is transmitted as an autosomal dominant trait. The absence of a clear correlation between mutant genotypes and phenotypic expression of the disease limits the prognostic value of genetic testing in families with hereditary non-autoimmune hyperthyroidism. Gain-of-function germline mutations occur preferentially in the transmembrane domain of the TSH-R, resulting in familial non-autoimmune hyperthyroidism. Familial gestational hyperthyroidism is due to a mutant TSH-R which is hypersensitive to chorionic gonadotropin. Management is based on drastic ablative therapy (surgery or radioiodine) to control the disease once the patient has become hyperthyroid.

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PROTEINS 14.3.3, CSF

Modification Delivery Time

Test code: 1475

PREVIOUS Delivery Time	CURRENT Delivery Time
Delivery time: 90 days	Delivary time: 35 days

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HEPATITIS D (HDV) QUANTIFICATION OF VIRAL RNA VIRAL LOAD, WHOLE BLOOD (FILTER PAPER)

New Test in CIC Catalog

Test Code: 3844

Sample:	Dried blood on filter paper
Conservation:	Frozen
Method:	Real-Time PCR
Set Up Days:
TAT (Days):	12 days

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TRICHINELLA SPIRALIS (TRICHINOSIS) IgG ANTIBODIES, SERUM

Modification Reference Values

Test code: 414

PREVIOUS Reference Values	CURRENT Reference Values
NEGATIVE: Title 1/80	NEGATIVE: Title 1/64

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PROLINE, URINE

Modification Reference Values

Test code: 3235

PREVIOUS Reference Values	CURRENT Reference Values
Adults: Less than 3 mg/24 hours	Adolescents (>12 years) and Adults: Less than 15 mg/g creatinine

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MOLECULAR STUDY EPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS (KRT9) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3825

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	50 days
Information:
Palmoplantar keratoderma (PPK) are a heterogeneous group of disorders of epidermal differentiation characterized by the presence of hyperkeratosis of palms and soles. The pattern of inheritance may be autosomal dominant (AD), autosomal recessive (AR) and X-linked and there are also acquired forms. The differential diagnosis based on clinical, association with other systemic disorders or ectodermal, histology, the inheritance pattern and the underlying gene defect. Clinically it is possible to identify three distinct patterns of hereditary PPK according to their distribution and extent: diffuse, focal and punctate.
Links:
OMIM Entry - #144200 - PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
OMIM Entry - -607606 - KERATIN 9; KRT9

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MOLECULAR STUDY EPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS (KRT9) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3824

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Palmoplantar keratoderma (PPK) are a heterogeneous group of disorders of epidermal differentiation characterized by the presence of hyperkeratosis of palms and soles. The pattern of inheritance may be autosomal dominant (AD), autosomal recessive (AR) and X-linked and there are also acquired forms. The differential diagnosis based on clinical, association with other systemic disorders or ectodermal, histology, the inheritance pattern and the underlying gene defect. Clinically it is possible to identify three distinct patterns of hereditary PPK according to their distribution and extent: diffuse, focal and punctate.
Links:
OMIM Entry - #144200 - PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
OMIM Entry - -607606 - KERATIN 9; KRT9

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IgE SPECIFIC ANTIBODIES FOR MUXF3 CCD bromeline (o214), SERUM

New Test in CIC Catalog

Test Code: 3818

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	ImmunoCAP (LOINC®: IMMUNOCAP)
Set Up Days:	Daily
TAT (Days):	5 days

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FRUCTOSE, URINE

New Test in CIC Catalog

Test Code: 3816

Sample:	URINE 24h (10 ml)
Conservation:	Refrigerated
Method:	Spectrophotometry (LOINC®: S)
Set Up Days:	Daily
TAT (Days):	1 days

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MOLECULAR STUDY - ASHKENAZI JEWISH CLUSTER-2, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3814

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Sequencing + Cleave Assay
Set Up Days:	Daily
TAT (Days):	40 days
Information:
Some ethnic groups are at increased risk for certain genetic diseases. In Ashkenazi Jewish population (Central-Eastern Europe) there are common genetic conditions that are inherited by their descendants. Thanks to advances in knowledge of genes, can now identify a number of genetic disorders for which there are studies to detect carriers. Our laboratory is offering a study (JA Cluster) for determining whether a person carries one of these diseases: Cystic Fibrosis (CFTR gene) is detected in 97% of cases, Tay-Sachs disease (gene Hex A, detected in 95% of cases) is a neurological disorder causing severe physical and mental deterioration with death usually at age 5 years, Canavan disease (ASPA gene, detected in 98% of cases) is another severe neurological disease in which the brain and nervous system becomes degenerate and there is no treatment and death occurs in infancy, Gaucher disease (GBA gene, detected in 95% of cases) may arise from a mild to very severe form in children and adults wich can suffer from anemia, enlarged liver and spleen, nose bleeds, and their bones break easily, and Familial Dysautonomia (IKBKAP gene, detected in 99 '5% of cases) and also is a severe neurological disorder that causes problems with swallowing and excessive sweating and children have gastrointestinal problems and pulmonary complications such as pneumonia. All diseases are autosomal recessive.

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