PHOSPHOFRUCTOKINASE, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4260

Sample:	Whole blood - Heparin-Na.(5 ml)
Conservation:	Refrigerated
Method:	Molecular Absorption Spectrometry
Set Up Days:	Daily
Plazo de Entrega:	17 days

   Find the record of the test by clicking here

INTERFERON GAMMA (QUANTIFERON TB), PLASMA

Modification Reference values

Test code: 3147

PREVIOUS Reference values	CURRENT  Reference values
NEGATIVE CONTROL:           Less than 8 UI/mL Ag TB-NC:                          Less than 0.35 UI/mL POSITIVE-NT CONTROL: Greater than 10 UI/mL	NEGATIVE CONTROL:            Less than 8 UI/mL Ag TB-NC:                           Less than 0.35 UI/mL POSITIVE-NT CONTROL: Greater than 0.5 UI/mL

   Find the record of the test by clicking here

ADALIMUMAB (HUMIRA) RESISTANCE TREATMENT, SERUM

New Test in CIC Catalog

Test Code: 4258

Sample:	Serum (1 ml)
Conservation:	Frozen
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
Plazo de Entrega:	23 days

   Find the record of the test by clicking here

MOLECULAR STUDY IRON REFRACTORY IRON DEFICIENCY ANEMIA, IRIDA, (TMPRSS6 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4256

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic iron homeostasis in humans.
Links:
OMIM Entry - # 206200 - IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA
OMIM Entry - - 609862 - TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6

   Find the record of the test by clicking here

IN SITU HIBRIDIZATION CHROMOSOME 8, CENTROMERIC PROBE, FISH, WHOLE BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 4255

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

   Find the record of the test by clicking here

IN SITU HIBRIDIZATION DELECTION 7q31 , FISH, WHOLE BLOOD/BONE MARROW

New Test in CIC Catalog

Test Code: 4254

Sample:	Whole blood - Heparin /Bone marrow (5 ml)
Conservation:	Refrigerated
Method:	Fluorescent In Situ Hybridization (LOINC®: FISH)
Set Up Days:	Daily
Plazo de Entrega:	9 days

   Find the record of the test by clicking here

MOLECULAR STUDY MDR1 GENE C3435T POLYMORPHISM WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4257

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Links:
OMIM Entry - - 171050 - ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1

   Find the record of the test by clicking here

MOLECULAR STUDY BRCA1, BRCA2 (SEQUENCING + MLPA), WHOLE BLOOD

Modification Delivery Time 

Test code: 4252

PREVIOUS Delivery Time	CURRENT  Delivery Time
Delivery time: 82 days	Delivery time: 62 days

   Find the record of the test by clicking here

NATALIZUMAB ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 4253

Sample:	Serum (2 ml)
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
Plazo de Entrega:	23 days

   Find the record of the test by clicking here

MOLECULAR STUDY BRCA1, BRCA2 (SEQUENCING + MLPA), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4252

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing / Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Plazo de Entrega:	82 days
Information:
Breast cancer (BC) is the most common cancer in women. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset BC and/or ovarian cancer (OC), and for 3-4% of all BC. The lifetime risk of developing hereditary BC (HBC) and/or OC can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between BC families, suggesting the involvement of other genetic as well as non-genetic factors. HBC is not associated with specific phenotypic features and diagnosis relies upon the following characteristics: increasing numbers of affected family members through the same bloodline (either maternal or paternal), early onset of disease, an excess of bilateral disease, an association with ovarian cancer (at any age), and occurrence of BC in males. Genetic testing confirms the diagnosis and allows better management of people at high risk of developing BC and/or OC.
Links:
BREAST CANCER - OMIM Result
Orphanet- Hereditary breast and ovarian cancer syndrome
BRCA2 GENE; BRCA2 - OMIM Result
BREAST CANCER 1 GENE; BRCA1 - OMIM Result

   Find the record of the test by clicking here

NOCARDIA DNA, BIOLOGICAL SAMPLE

New Test in CIC Catalog

Test Code: 4251

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Real-Time PCR
Set Up Days:	Daily
Plazo de Entrega:	6 days

   Find the record of the test by clicking here

REPORTS & RESULTS OF MOLECULAR STUDIES AND HEREDITARY DISEASES

CIC is on adapting process for its immediate implementation of Reports & Results of molecular studies and inherited diseases, these will be reported according to the international recommendations (EMQN European Molecular Genetics Quality Network) based on a set of standardized criteria:

http://www.sgmg.ch/user_files/images/SGMG_Reporting_Guidelines.pdf

C1Q ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 4250

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
Plazo de Entrega:	6 days

   Find the record of the test by clicking here

METAPNEUMOVIRUS RNA, BIOLOGICAL SAMPLE

New Test in CIC Catalog

Test Code: 4247

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Real-Time PCR
Set Up Days:	Daily
Plazo de Entrega:	8 days

   Find the record of the test by clicking here

-->

MEASLES IgG ANTIBODIES, BIOLOGICAL SAMPLE

New Test in CIC Catalog

Test Code: 4248

Sample:	Biological fluids (2 ml)
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	T,
Plazo de Entrega:	5 days

   Find the record of the test by clicking here

MEASLES IgM ANTIBODIES, BIOLOGICAL SAMPLE

New Test in CIC Catalog

Test Code: 4249

Sample:	Biological fluids (2 ml)
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	T,
Plazo de Entrega:	5 days

   Find the record of the test by clicking here

BETA INTERFERON ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 4245

Sample:	Serum (2 ml)
Conservation:	Frozen
Method:	Chemiluminescence (LOINC®: CL)
Set Up Days:	Daily
Plazo de Entrega:	10 days

   Find the record of the test by clicking here

IgG SPECIFIC TO FOODS ( 90 TYPES), SERUM

Modification Reference Values 

Test code: 3443

PREVIOUS   Reference Values	CURRENT   Reference Values
Negative	Negative:        Inferior a 50 U/mL Weak positive         50 - 100 U/mL Medium positive:     100 - 200 U/mL High positive:  Superior a 200 U/mL

   Find the record of the test by clicking here

VITAMIN D (1,25 DIHYDROXYCHOLICALCIFEROL), SERUM

Modification Delivery Time 

Test code: 418

PREVIOUS Delivery Time	CURRENT  Delivery Time
Delivery time: 5 days	Delivery time: 3 days

   Find the record of the test by clicking here

MOLECULAR STUDY ROBINOW (WNT5A GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4242

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Robinow syndrome is a hereditary disease, extremely rare, with a frequency of 1 per 500,000 births. It is characterized by face reminiscent of a fetus of 8 weeks, and acromelic and mesomelic shortening, shortering of the upper extremities and genital hypoplasia. In some cases, Robinow syndrome has autosomal dominant inheritance, in other cases, the disease may have an autosomal recessive inheritance. The recessive form is more severe, but clinically indistinguishable. Have been described WNT5A mutations cause the dominant form of Robinow syndrome and ROR2 mutations cause the recessive form of the syndrome.
Links:
OMIM Entry - # 180700 - ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS
OMIM Entry - - 164975 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A

   Find the record of the test by clicking here

MOLECULAR STUDY X-LINKED CONGENITAL ADRENAL HIPOPLASIA (NR0B1 GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4241

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
X-linked adrenal hypoplasia congenita (X-linked AHC) is characterized by infantile-onset acute adrenal insufficiency at an average age of three weeks in approximately 60% of affected individuals. Onset in approximately 40% is in childhood. A few individuals present in adulthood with infertility. Adrenal insufficiency typically presents acutely with vomiting, feeding difficulty, dehydration, and shock caused by a salt-wasting episode. Primary adrenal failure characterized by hyponatremia, hyperkalemia, acidosis, and an elevated serum concentration of ACTH in the presence of normal or low serum concentration of 17-hydroxyprogesterone presenting in a male in the first month of life strongly suggests X-linked AHC. Males with such findings may have: 1) a contiguous gene deletion including the glycerol kinase gene (GK) with or without deletion of DMD, the gene encoding dystrophin (~1/3 of all affected individuals); 2) isolated AHC with a positive family history consistent with X-linked inheritance (~1/3 of affected individuals); or 3) isolated AHC with a negative family history (~1/3 of affected individuals). Individuals with a contiguous gene deletion can be identified by fluorescent in situ hybridization (FISH) using a NR0B1 (DAX1) cosmid probe or other deletion/duplication testing methods. Such testing is clinically available. Nearly 100% of affected individuals with a positive family history consistent with X-linked inheritance have an identifiable mutation in NR0B1, the only gene known to be associated with X-linked adrenal hypoplasia congenita. Between 50% and 70% of males with AHC who have no other affected family members have an identifiable mutation in NR0B1.
Links:
OMIM Entry - # 300018 - 46,XY SEX REVERSAL 2; SRXY2
OMIM Entry - # 300200 - ADRENAL HYPOPLASIA, CONGENITAL; AHC
X-Linked Adrenal Hypoplasia Congenita - GeneReviews™ - NCBI Bookshelf
OMIM Entry - - 300473 - NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1

   Find the record of the test by clicking here

AMIKACIN, SERUM

Modification Method and Reference Values 

Test code: 278

PREVIOUS   Method and Reference Values

CURRENT  Method and Reference Values

FLUORESCENCE POLARIZATION IMMUNOASSAY THERAPEUTIC LEVEL (childs):            Peak (at 30-60 min.)     : 15 - 25 mg/L            Valley (before next dose): 2 -  4  mg/L THERAPEUTIC LEVEL (adults):            Peak (at 30-60 min.)     : 20 - 25 mg/L            Valley (before next dose): 5 - 10  mg/L TOXIC LEVEL:                Peak (at 30-60 min.)     :    > 30   mg/L            Valley (before next dose):  > 10   mg/L

IMMUNOASSAY THERAPEUTIC LEVEL: Peak (at  60 min.):          20 - 30 mg/L Valley (before next dose): 1 - 4  mg/L

   Find the record of the test by clicking here

MERCURY, URINE

Modification Reference values and additional information

Test code: 382

PREVIOUS Reference values and additional information	CURRENT  Reference values and additional information
NO EXPOSED: Less than 20 µg/g creatinina B.E.I.(Before work day): Less than 35 µg/g creatinina B.E.I. (After work day): Less than 60 µg/g creatinina We suggest collecting urine before starting the workday and two days away from exposure.	NO EXP0SED: Less than 5 µg/g creatinina B.E.I.(After 16 hours without exposure): Less than 30 µg/g creatinina   * Atomic Absorption Spectrophotometry Method for thermal decomposition of gold amalgam. We suggest collecting urine before starting the workday and after 16 hours without exposure.

   Find the record of the test by clicking here

MYCOPLASMA HOMINIS, PCR

New Test in CIC Catalog

Test Code: 4240

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Real-Time PCR
Set Up Days:	Daily
Plazo de Entrega:	6 days

   Find the record of the test by clicking here

MOLECULAR STUDY FACTOR V CAMBRIDGE, GEN FV (Arg306Gln), SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4238

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	22 days
Information:
Factor V mutant (factor V Cambridge, Arg306Thr) is associated with APC resistance and thrombosis. It is the only mutation other than factor V Leiden associated with this phenomenon. The degree of APC resistance associated with Thr306 is the same as that due to the Gln506 mutation. Persons who are at risk to carry the factor V mutation are those with a family history of early onset stroke, deep vein thrombosis, thromboembolism, pregnancy associated with thrombosis/embolism, hyperhomocystinemia, and multiple miscarriage. Individuals with the mutation are at increased risk of thrombosis in the setting of oral contraceptive use, trauma, and surgery. Direct DNA analysis of the Factor V and prothrombin (see below) mutations are now recommended for at-risk patients because of the importance of therapy and antithrombotic prophylaxis.
Links:
OMIM Entry - # 188055 - THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2
OMIM Entry - # 227400 - FACTOR V DEFICIENCY
OMIM Entry - - 612309 - COAGULATION FACTOR V; F5

   Find the record of the test by clicking here

NEW DELHI METALLO BETA-LACTAMASE, PCR

New Test in CIC Catalog

Test Code: 4239

Sample:	CULTURE
Conservation:	Room temperature
Method:	Real-Time PCR
Set Up Days:	Daily
Plazo de Entrega:	6 days

   Find the record of the test by clicking here

-->

GAD 65 ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 4237

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	Enzyme Immunoassay (LOINC®: EIA)
Set Up Days:	Daily
Plazo de Entrega:	6 days

   Find the record of the test by clicking here

IGF-1 (SOMATOMEDIN C)- RIA, SERUM

Modification Reference values: Modification typo in age 0 - 2 years

Test code: 4179

PREVIOUS Reference values

CURRENT  Reference values

Age(years)         Men(ng/mL)         Women(ng/mL) 0-2                      73 - 184                9 - 143  3-5                     103 - 189             84 - 447  6-8                     115 - 249            79 - 432  9-11                   181 - 656           175 - 445  12-14                168 - 557            202 - 1101    15-17                224 - 592            138 - 658 18-20                190 - 390            144 - 519 21-30                235 - 408            191 - 478 31-40                154 - 270            180 - 437 41-50                160 - 318            123 - 406 51-60                144 - 286            122 - 327 >60                    94 - 245               91 - 320

Age(years)        Men(ng/mL)         Women(ng/mL) 0-2                      73 - 184              59 - 143  3-5                    103 - 189              84 - 447  6-8                    115 - 249              79 - 432  9-11                  181 - 656            175 - 445  12-14                168 - 557            202 - 1101    15-17                224 - 592            138 - 658 18-20                190 - 390            144 - 519 21-30                235 - 408            191 - 478 31-40               154 - 270             180 - 437 41-50               160 - 318             123 - 406 51-60               144 - 286             122  - 327 >60                    94 - 245               91 - 320

   Find the record of the test by clicking here