MOLECULAR STUDY - DIAMOND BLACKFAN ANEMIA (RPL5,RPS1O,RPL11,RPL35A,RPS26,RPS24,RPS17,RPS7) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4044

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. The anemia is discovered early in life, usually within the first 2 years; diagnosis after 4 years of age is very unlikely. Pallor and dyspnea, especially during feeding or while sucking, are the principal warning signs. Pallor is isolated, without organomegaly, signs suggestive of hemolysis or involvement of other hematopoietic cell lines. Over half of all DBA patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Pregnancies in DBA-affected women are now identified as high-risk, for both mother and child. DBA patients may also be at a higher risk of leukemia and cancer. DBA is inherited as an autosomal dominant trait with variable penetrance. At present, disease-causing mutations are identified in 40-45% of patients. All involved genes code for ribosomal proteins (RPs) from either the small (RPS7, RPS17, RPS19, RPS24) or the large (RPL5,RPL11, RPL35a) ribosomal subunit. Mutations in RPS19, RPL5 and RPL11 are found in 25%, 9% and 6.5% of patients respectively, whereas the other genes are each involved in only 1 to 3% of cases. The only clear genotype/phenotype correlation made so far is the frequent occurrence of craniofacial abnormalities in RPL5 andRPL11 mutation carriers and the rarity of these anomalies in RPS19 mutation carriers.
Links:
Orphanet- Blackfan Diamond disease Blackfan Diamond anemia
OMIM Entry - # 612563 - DIAMOND-BLACKFAN ANEMIA 8; DBA8
OMIM Entry - - 180468 - RIBOSOMAL PROTEIN L35A; RPL35A
OMIM Entry - - 180472 - RIBOSOMAL PROTEIN S17; RPS17
OMIM Entry - - 602412 - RIBOSOMAL PROTEIN S24; RPS24
OMIM Entry - - 603632 - RIBOSOMAL PROTEIN S10; RPS10
OMIM Entry - - 603634 - RIBOSOMAL PROTEIN L5; RPL5
OMIM Entry - - 603701 - RIBOSOMAL PROTEIN S26; RPS26
OMIM Entry - - 604175 - RIBOSOMAL PROTEIN L11; RPL11

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MOLECULAR STUDY - DIAMOND BLACKFAN ANEMIA (RPL5, RPS1O, RPL11) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4043

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. Both sexes are equally affected and no ethnic predisposition has been identified. The anemia is discovered early in life, usually within the first 2 years; diagnosis after 4 years of age is very unlikely. Pallor and dyspnea, especially during feeding or while sucking, are the principal warning signs. Over half of all DBA patients present with short stature and congenital anomalies, the most frequent being craniofacial, thumb and urogenital anomalies. Pregnancies in DBA-affected women are now identified as high-risk, for both mother and child. DBA patients may also be at a higher risk of leukemia and cancer. DBA is inherited as an autosomal dominant trait with variable penetrance. At present, disease-causing mutations are identified in 40-45% of patients. All involved genes code for ribosomal proteins (RPs). Mutations in RPS19 are found in 25% of patients. The only clear genotype/phenotype correlation made so far is the frequent occurrence of craniofacial abnormalities in RPL5 and RPL11 mutation carriers and the rarity of these anomalies in RPS19 mutation carriers. Genetic counseling and prenatal diagnosis are difficult because of the variability of clinical expression and the fact that only 40-45% of patients have an identified mutation within a RP gene. Close ultrasound follow-up during the pregnancy is recommended in all cases. The prognosis is generally good. However, complications of treatment and a higher incidence of cancer may reduce life expectancy.
Links:
OMIM Entry - # 612561 - DIAMOND-BLACKFAN ANEMIA 6; DBA6
OMIM Entry - # 612562 - DIAMOND-BLACKFAN ANEMIA 7; DBA7
OMIM Entry - # 613308 - DIAMOND-BLACKFAN ANEMIA 9; DBA9
Orphanet- Blackfan Diamond disease Blackfan Diamond anemia
OMIM Entry - - 603632 - RIBOSOMAL PROTEIN S10; RPS10
OMIM Entry - - 603634 - RIBOSOMAL PROTEIN L5; RPL5
OMIM Entry - - 604175 - RIBOSOMAL PROTEIN L11; RPL11

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LUPUS ANTICOAGULANT (CONFIRMATION SCT), PLASMA

New Test in CIC Catalog

Test Code: 4042

Sample:	Citrate plasma (3.8% Dil. 1/9) (2ml)
Conservation:	Frozen
Method:	Clot Detection - SCT (LOINC®: CLOT DET)
Set Up Days:	Daily
TAT (Days):	6 days

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LUPUS ANTICOAGULANT (RUSSELL), PLASMA

Modification Reference Values

Test code: 1000

PREVIOUS Reference Values	CURRENT Reference Values
Not detected	- Screening < 1.1: NEGATIVE   Confirmatory not applicable.   It is recommended Lac detection by SCT (Silica Clotting Time) technique. - Screening > or equal 1.1: POSITIVE   Confirmatory appropriate to use. - Relationship Screening/Confirmatory) < 1.2: NEGATIVE   It is recommended Lac detection by SCT (Silica Clotting Time) technique. - Relationship Screening/Confirmatory > or equal 1.2: POSITIVE

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ANTI - HU ANTIBODIES, SERUM

New Test in CIC Catalog

Test Code: 4041

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Indirect fluorescent antibody (LOINC®: IFA)
Set Up Days:	W,
TAT (Days):	15 days

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HIV 1& 2 ANTIBODIES, BIOLOGIC SAMPLE

New Test in CIC Catalog

Test Code: 4040

Sample:	Biological fluids (2 ml)
Conservation:	Refrigerated
Method:	Chemiluminescence (LOINC®: CL)
Set Up Days:	Daily
TAT (Days):	1 days

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LEISHMANIA DONOVANI IgG ANTIBODIES, SERUM

Modification Reference Values

Test code: 3034

PREVIOUS Reference Values	CURRENT Reference Values
NEGATIVE: Titer 1/40	NEGATIVE: Titer 1/320

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LEISHMANIA DONOVANI IgM ANTIBODIES, SERUM

Modification Reference Values

Test code: 3038

PREVIOUS Reference Values	CURRENT Reference Values
NEGATIVE: Titer 1/10	NEGATIVE: Titer 1/100

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MOLECULAR STUDY - DIAMOND BLACKFAN ANEMIA (RPS19) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4038

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	25 days
Information:
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia. Both sexes are equally affected and no ethnic predisposition has been identified. The anemia is discovered early in life, usually within the first 2 years; diagnosis after 4 years of age is very unlikely. Pallor and dyspnea, especially during feeding or while sucking, are the principal warning signs. Over half of all DBA patients present with short stature and congenital anomalies, the most frequent being craniofacial, thumb and urogenital anomalies. Pregnancies in DBA-affected women are now identified as high-risk, for both mother and child. DBA patients may also be at a higher risk of leukemia and cancer. DBA is inherited as an autosomal dominant trait with variable penetrance. At present, disease-causing mutations are identified in 40-45% of patients. All involved genes code for ribosomal proteins (RPs). Mutations in RPS19 are found in 25% of patients. The only clear genotype/phenotype correlation made so far is the frequent occurrence of craniofacial abnormalities in RPL5 and RPL11 mutation carriers and the rarity of these anomalies in RPS19 mutation carriers. Genetic counseling and prenatal diagnosis are difficult because of the variability of clinical expression and the fact that only 40-45% of patients have an identified mutation within a RP gene. Close ultrasound follow-up during the pregnancy is recommended in all cases. The prognosis is generally good. However, complications of treatment and a higher incidence of cancer may reduce life expectancy.
Links:
OMIM Entry - # 105650 - DIAMOND-BLACKFAN ANEMIA; DBA
Orphanet- Blackfan Diamond disease Blackfan Diamond anemia
OMIM Entry - - 603474 - RIBOSOMAL PROTEIN S19; RPS19

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MOLECULAR STUDY DEFICIENCY METHYLCROTONYL-COA (MCCC2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4031

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	40 days
Information:
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism. MCC is a heteromeric mitochondrial enzyme. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Most symptomatic patients have normal growth and development until presenting with an acute metabolic crisis between 2 and 33 months of age. Such an episode usually follows a minor infection or introduction of a protein-rich diet. Symptoms include vomiting, opisthotonus, involuntary movements, seizures, coma and apnoea, and are often accompanied by severe hypoglycemia, ketoacidosis and mild hyperammonemia. The major abnormal metabolites are 3-methylcrotonylglycine and 3-hydroxyisovaleric acid in urine, and 3-hydroxisovalerylcarnitine in blood. The patients usually respond to intravenous fluids and cessation of protein feeding and are asymptomatic between acute episodes. Recent studies provide evidence that the missense mutation MCCA-R385S in the presence of the wild type allele has a dominant negative effect that may lead to biochemical and clinical abnormalities in heterozygous individuals. Moreover, in such subjects biotin therapy appears to counteract the dominant negative effect in vivo.
Links:
OMIM Entry - # 210210 - 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
Orphanet- Isolated 3 methylcrotonyl CoA carboxylase deficiency
OMIM Entry - - 609014 - 3-METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2

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MOLECULAR STUDY DEFICIENCY METHYLCROTONYL-COA (MCCC1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4030

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	40 days
Information:
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism. MCC is a heteromeric mitochondrial enzyme. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Most symptomatic patients have normal growth and development until presenting with an acute metabolic crisis between 2 and 33 months of age. Such an episode usually follows a minor infection or introduction of a protein-rich diet. Symptoms include vomiting, opisthotonus, involuntary movements, seizures, coma and apnoea, and are often accompanied by severe hypoglycemia, ketoacidosis and mild hyperammonemia. The major abnormal metabolites are 3-methylcrotonylglycine and 3-hydroxyisovaleric acid in urine, and 3-hydroxisovalerylcarnitine in blood. The patients usually respond to intravenous fluids and cessation of protein feeding and are asymptomatic between acute episodes. Recent studies provide evidence that the missense mutation MCCA-R385S in the presence of the wild type allele has a dominant negative effect that may lead to biochemical and clinical abnormalities in heterozygous individuals. Moreover, in such subjects biotin therapy appears to counteract the dominant negative effect in vivo.
Links:
OMIM Entry - # 210200 - 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
Orphanet- Isolated 3 methylcrotonyl CoA carboxylase deficiency
OMIM Entry - - 609010 - 3-METHYLCROTONYL-CoA CARBOXYLASE 1; MCCC1

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MOLECULAR STUDY GASTROINTESTINAL STROMA TUMOR-GIST (PDGFRA) SCREENING, TISSUE

New Test in CIC Catalog

Test Code: 4029

Sample:	Tumoral tissue
Conservation:	Room temperature
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Gastrointestinal stromal tumours (GISTs) are defined as gastrointestinal mesenchymal tumours. GISTs are rare and constitute about 1-3% of all gastrointestinal (GI) malignancies, nevertheless, they are the commonest type of GI mesenchymal tumours. Clinical features depend on the size and site of the tumour and include acute or chronic bleeding, intestinal obstruction, perforation, alteration of bowel habits, vague abdominal discomfort, dysphagia and an externally palpable abdominal mass. Some GISTs carry a mutation in the platelet-derived growth factor receptor-alpha (PDGFRA) gene.
Links:
OMIM Entry - # 606764 - GASTROINTESTINAL STROMAL TUMOR; GIST
Orphanet- Gastrointestinal stromal tumor GIST
OMIM Entry - - 173490 - PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA

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MOLECULAR STUDY HLA TYPING ASSOCIATED NARCOLEPSY, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4027

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Polymerase chain reaction (LOINC®: PCR)
Set Up Days:	Daily
TAT (Days):	15 days

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LEGIONELLA PNEUMOPHILLA, DNA, WATER FILTER

New Test in CIC Catalog

Test Code: 4026

Sample:	Water Filter
Conservation:	Refrigerated
Method:	Nested PCR
Set Up Days:	Daily
TAT (Days):	15 days

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MOLECULAR STUDY PRIMARY CILIARY DYSKINESIA TYPE 1 AND 3 (DNAI1, DNAH5) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4025

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	60 days
Information:
Primary ciliary diskinesia type 1 (Kartagener sd) and 3, associate respiratory disorders (chronic bronchorrhea with bronchoectasis and chronic sinusitis) with situs inversus. Men may present with infertility because of immotile sperm. Mutations in the DNAI1 and DNAH5 genes account for up to 38 percent of all cases of primary ciliary dyskinesia. Mutations in the other genes associated with this condition are found in only a small percentage of cases. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.
Links:
OMIM Entry - # 244400 - CILIARY DYSKINESIA, PRIMARY, 1; CILD1
OMIM Entry - # 608644 - CILIARY DYSKINESIA, PRIMARY, 3; CILD3
Orphanet- Primary ciliary dyskinesia
OMIM Entry - - 603335 - DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5
OMIM Entry - - 604366 - DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1

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MOLECULAR STUDY PRIMARY CILIARY DYSKINESIA TYPE 1, KARTAGENER SYNDROME (DNAI1) SCREENING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4024

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Primary ciliary diskinesia, Kartagener type is an autosomal recessive variant of primary cilia dyskinesia which associates respiratory disorders (chronic bronchorrhea with bronchoectasis and chronic sinusitis) with situs inversus. Men may present with infertility because of immotile sperm. Mutations in the DNAI1 gene account for 2-10 percent of all cases of Kartagener syndrome. In many people with primary ciliary dyskinesia, the cause of the disorder is unknown.
Links:
OMIM Entry - # 244400 - CILIARY DYSKINESIA, PRIMARY, 1; CILD1
Orphanet- Primary ciliary dyskinesia Kartagener type Kartagener syndrome
OMIM Entry - - 604366 - DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1

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