GAMMA AMINOBUTYRIC ACID (GABA), SERUM

Erased test in CIC Catalog

Test Code: 3313

Discontinued for technical reasons and decrease in demand.

INTERLEUKIN 8 (IL 8) , SERUM

Modification Method 

Test code: 4224

PREVIOUS   Method	CURRENT  Method
Immunoassay	Enzyme Immonoassay

   Find the record of the test by clicking here

CARNITINE, TOTAL/FREE (L-CARNITINE) , PLASMA

Modifications and Relative information

Test code: 2710

PREVIOUS	CURRENT   Relative information
CARNITINE FREE: 30 - 50 µmol/L CARNITINE TOTAL: 43 - 65 µmol/L	CARNITINE FREE (µmol/L) TOTAL (µmol/L) < 1 day       13 - 27       25 - 47 < 7 days           12 - 18       21 - 29 < 1 month          18 - 38       26 - 48 < 1 year            29 - 43             40 - 56 > 1 year            30 - 50       43 - 65

   Find the record of the test by clicking here

Refsum disease (PEX7) sequencing, whole blood

New Test in CIC Catalog

Test Code: 4408

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases. Initial signs usually appear around the age of 15, but they can also manifest during childhood or at the age of 30-40 years. The first symptom is hemeralopia (loss of vision in the dark), followed by episods of chronic distal motor polyneuropathy. Other associated signs include perceptive deafness, anosmia, cerebellous ataxia and sometimes, severe intellectual deficiency. Refsum disease is transmitted as an autosomal recessive trait. More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7.
Links:
OMIM Entry - # 614879 - PEROXISOME BIOGENESIS DISORDER 9B; PBD9B
Orphanet- Refsum disease
OMIM Entry - - 601757 - PEROXISOME BIOGENESIS FACTOR 7; PEX7

   Find the record of the test by clicking here

Refsum disease (PHYH) sequencing, whole blood

New Test in CIC Catalog

Test Code: 4407

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases. Initial signs usually appear around the age of 15, but they can also manifest during childhood or at the age of 30-40 years. The first symptom is hemeralopia (loss of vision in the dark), followed by episods of chronic distal motor polyneuropathy. Other associated signs include perceptive deafness, anosmia, cerebellous ataxia and sometimes, severe intellectual deficiency. Refsum disease is transmitted as an autosomal recessive trait. More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7.
Links:
OMIM Entry - # 266500 - REFSUM DISEASE, CLASSIC
Orphanet- Refsum disease
OMIM Entry - - 602026 - PHYTANOYL-CoA HYDROXYLASE; PHYH

   Find the record of the test by clicking here

AMILOIDE PROTEIN A (SAA), SERUM

Modification Reference values

Test code: 3322

PREVIOUS Reference values	CURRENT  Reference values
Negative: Less than 15 mg/L	Negative: Less than 6.4 mg/L

   Find the record of the test by clicking here

STIMULATION OF XYLOSE- SERUM

Modification Reference values

Test code: 851

PREVIOUS Reference values	CURRENT  Reference values
Serum 1 Hour            Serum 2 Hours Normal                > 40 mg/dL                 > 25 mg/dL Esprue not treated  10-40 mg/dL             7-17 mg/dL Esprue treated      12-24 mg/dL              8-30 mg/dL	Serum: -60 minutes:   21 - 57 mg/dL -120 minutes:  32 - 58 mg/dL    Guideline pediatric and adults: 0.5 g/kg body weight D-Xylose (maximum 25 g) in 10% aqueous solution.

   Find the record of the test by clicking here

STIMULATION OF XYLOSE- SERUM

Modification Reference values

Test code: 758

PREVIOUS Reference values	CURRENT  Reference values
Serum 1 Hour          Serum 2 Hours Normal                > 40 mg/dL                 > 25 mg/dL Esprue not treated  10-40 mg/dL             7-17 mg/dL Esprue treated      12-24 mg/dL              8-30 mg/dL	Serum: -60 minutes:   21 - 57 mg/dL -120 minutes:  32 - 58 mg/dL    Guideline pediatric and adults: 0.5 g/kg body weight D-Xylose (maximum 25 g) in 10% aqueous solution.

   Find the record of the test by clicking here

XYLOSE (XYLOSE TEST POST / URINE) , SERUM + URINE

Modification Reference values

Test code: 333

PREVIOUS Reference values	CURRENT  Reference values
serum 1 H     serum 2 H     Urine 5 H Normal          0 mg/dL    > 25mg/dL    5.3-7.7 g/5H Esprue not treated:  10-40 mg/dL   7-17 mg/dL   0.6- 2  g/5H Esprue  in remission: 12-24 mg/dL   8-30 mg/dL   1.8-4.2 g/5H	Serum: -60 minutes:   21 - 57 mg/dL -120 minutes:  32 - 58 mg/dL Urine: 3 -9 g/5H                    Xylose Administration. - Empty the bladder and administar Xylose as pattern and collect urine at 5 hours after.    Guideline pediatric and adults: 0.5 g/kg body weight D-Xylose (maximum 25 g) in 10% aqueous solution.

   Find the record of the test by clicking here

HIV-I antigen (P24) (quqntitative), serum

New Test in CIC Catalog

Test Code: 4400

Sample:	Serum (1 ml)
Conservation:	Refrigerated
Method:	Immunoassay (LOINC®: IA)
Set Up Days:	Daily
Plazo de Entrega:	5 days

   Find the record of the test by clicking here

THIORIDAZINE, SERUM

Modification Reference values

Test code: 3600

PREVIOUS Reference values	CURRENT  Reference values
0.03 - 1.20 mg/L	TERAPEUTIC LEVEL: 0.15 - 2.5 mg/L TOXIC LEVEL:       3.0 - 5.0 mg/L

   Find the record of the test by clicking here

Severe combined immunodeficiency, SCIDX1 (IL2RG) sequencing, whole blood

New Test in CIC Catalog

Test Code: 4405

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. It accounts for approximately 50% of SCID cases and is the most common form of SCID in Europe. The disease occurs in males. SCID-X1 manifests during the first months of life with severe and often life threatening viral, bacterial or fungal infections, and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Materno-fetal transfusion-associated graft versus host disease is also associated with the disease. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count. SCID-X1 results from a defect in the IL2RG gene encoding the common gamma chain. Transmission is X-linked.
Links:
OMIM Entry - # 300400 - SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
Orphanet- T B severe combined immunodeficiency due to gamma chain deficiency
OMIM Entry - - 308380 - INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG

   Find the record of the test by clicking here

Spinocerebellar ataxia 5, SCA5 (exons 14,16,21-SPTBN2) screening, whole blood

New Test in CIC Catalog

Test Code: 4404

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	25 days
Information:
SCA5 presents with cerebellar signs and eye movement abnormalities. Several patients manifested non-cerebellar signs such as facial myokimia, horizontal gaze palsy, intention or resting tremor, brisk deep tendon reflexes, and impaired vibration sense. Head MRI shows global atrophy of the cerebellum without any involvement of brainstem or any other brain regions. The age of symptomatic disease onset is between 10 and 68 years (mean 33 years) without anticipation . This slowly progressive type of SCA can have a disease duration of more than 30 years. SCA5 has age related penetrance. To date, two in-frame deletions and one missense mutation have been confirmed as pathogenic mutations in SPTBN2 gene.

   Find the record of the test by clicking here

BRUCELLA ANTIBODIES, SERUM

Test code: 137

PREVIOUS Reference values	CURRENT  Reference values
Negative: Titer less than 1/20	Negative: Titer less than 1/80

   Find the record of the test by clicking here

PROCOLLAGEN TYPE I N-TERMINAL PROPEPTIDE, SERUM

Modification Method 

Test code: 2650

PREVIOUS   Method	CURRENT  Method
Radioimmunoassay	Chemiluminiscence

   Find the record of the test by clicking here

T3 REVERSE, SERUM

Modifications and Relative information

Test code: 434

PREVIOUS	CURRENT   Relative information
Adults  : 0.1 - 0.35 ng/mL Newborns: 1.0 - 1.7  ng/mL	CHILDREN: Cord blood (>37 weeks):          13 - 20 ng/mL 1 day:                                  8.3 - 19.4 ng/mL 2 days:                              10.7 - 20.9 ng/mL 3 days:                               10.2 - 16.6 ng/mL 1 month - 20 years:                1.0 - 3.5 ng/mL      ADULTS:                             0.1 - 0.35 ng/mL

   Find the record of the test by clicking here