ANTI-CALCIUM CHANNEL (LEMS), SERUM

New Test in CIC Catalog

Test Code: 3910

Sample:	Serum (1 ml)
Conservation:	Frozen
Method:	Radioimmunoassay (LOINC®: RIA)
Set Up Days:
TAT (Days):	42 days

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MOLECULAR STUDY FAMILIAL HYPERCHOLESTEROLEMIA (LDLR, PCSK9, LDLRAP1, APOB (exon 26)) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3901

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Familial hypercholesterolaemia (FH) is a hereditary dyslipidaemia characterised by a permanent and isolated elevation in circulating low-density lipoprotein (LDL) levels. FH is often transmitted as a codominant trait and two clinical forms have been described. The heterozygous form is often clinically silent and may be diagnosed at any age following a complete lipid analysis (carried out after a period of fasting of over 12 hours) and diagnostic scores based on familial history (over three or more generations) or a personal history of coronary artery disease, extravascular deposits and isolated hypercholesterolaemia that does not respond to a lipid-controlled diet. The severe homozygous form is very rare with onset in the first two years of life and is characterised by extravascular cholesterol deposits (cutaneous or tendon xanthomas), LDL levels and an arteriopathy (aortic stenosis, coronary artery disease) manifesting before 10 years of age. Recessively inherited hypercholesterolaemia (less than 20 cases reported so far) is characterised by xanthomas and/or atherosclerosis in children with severe hypercholesterolaemia born to parents with normal lipid levels. For the dominant forms, mutations have been identified in the following genes: LDLR (responsible for between 2/3 and 3/4 of dominantly inherited cases), APOB and PCSK9. For the recessive forms, causative mutations have been identified in the LDLRAP1 and ABCG5/ABCG8 genes. Due to the high risk of cardiovascular disease, the diagnosis of HF in an individual should lead to investigation and management of the whole family.
Links:
OMIM Entry - #143890 - HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM Entry - #144010 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
OMIM Entry - #603776 - HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
OMIM Entry - #603813 - HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
Orphanet- Familial hypercholesterolemia
OMIM Entry - +107730 - APOLIPOPROTEIN B; APOB
OMIM Entry - -605747 - LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1
OMIM Entry - -606945 - LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
OMIM Entry - -607786 - PROPROTEIN CONVERTASE, SUBTILISIN-KEXIN-TYPE, 9; PCSK9

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MOLECULAR STUDY WOLFF-PARKINSON-WHITE SYNDROME (PRKAG2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3900

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Wolff-Parkinson-White syndrome (WPW) is a supernormal conduction disorder; it is characterised by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia. WPW syndrome mainly affects males (70% of cases), mostly at a young age. During foetal life, numerous connections link the atria to the ventricles, but they all disappear before birth except for one: the bundle of His. However, in some individuals, other connections may also persist. The positions of these accessory pathways vary from one patient to another. These accessory pathways bypass the atrioventricular node, leading to ventricular preexcitation and, in some cases, to episodes of tachycardia that either stop spontaneously or require treatment. Cardiac preexcitation can be associated with a heart malformation (such as Ebstein anomaly) or with isolated hypertrophic cardiomyopathy, or it can be part of Pompe or Danon disease. Wolff-Parkinson-White syndrome can be sporadic or familial. The familial form is difficult to identify because the accessory pathways are not always permeable (active). It can be totally silent, either clinically (no tachycardia) or on the electrocardiogram (ECG). Mutations in the PRKAG2 gene have been associated with some familial forms of the Wolff-Parkinson-White syndrome. With the exception of a few cases of sudden death, life expectancy is generally not altered by the syndrome.
Links:
OMIM Entry - #194200 - WOLFF-PARKINSON-WHITE SYNDROME
Orphanet- Wolff Parkinson White syndrome
OMIM Entry - -602743 - PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2

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MOLECULAR STUDY DANON DISEASE (LAMP2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3899

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. More than 20 families have been described in the literature so far. The disease classically manifests in males over 10 years of age. The clinical picture may be severe in both sexes, but onset generally occurs later in females. The disease is transmitted as an X-linked recessive trait and is caused by mutations in the LAMP2 gene, localised to Xq24.
Links:
OMIM Entry - #300257 - DANON DISEASE
Orphanet- Glycogen storage disease due to LAMP 2 deficiency Danon disease
OMIM Entry - -309060 - LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2

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MOLECULAR STUDY DILATED CARDIOMYOPATHY (MYH7, TNNT2, ACTC1, TPM1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3898

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. In many cases the disease is inherited and is termed familial DCM (FDC). FDC may account for 20-48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection fraction have a low survival rate and may require heart transplant.
Links:
OMIM Entry - #601494 - CARDIOMYOPATHY, DILATED, 1D; CMD1D
OMIM Entry - #611878 - CARDIOMYOPATHY, DILATED, 1Y; CMD1Y
OMIM Entry - -102540 - ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1
OMIM Entry - -160760 - MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7
Orphanet- Familial isolated dilated cardiomyopathy
OMIM Entry - #613424 - CARDIOMYOPATHY, DILATED, 1R; CMD1R
OMIM Entry - #613426 - CARDIOMYOPATHY, DILATED, 1S; CMD1S
OMIM Entry - -191010 - TROPOMYOSIN 1; TPM1
OMIM Entry - -191045 - TROPONIN T2, CARDIAC; TNNT2

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MOLECULAR STUDY CATECHOLINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CASQ2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3897

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically-induced ventricular tachycardia (VT) manifesting as syncope and sudden death. Typical age of onset of CPVT is between 7 and 9 years of age with no sex difference. Syncopal spells, brought on by exercise or acute emotion, are frequently the first symptom observed. Sudden death can be the first manifestation of the disease in a subset of patients (10-20%). The typical arrhythmias of CPVT are bidirectional ventricular tachycardia and, less frequently, supraventricular tachycardia and atrial fibrillation. The two genes responsible for CPVT that have been discovered to date, are the cardiac ryanodine receptor (RYR2) gene (1q43), which is the cause of CPVT in approximately 55% to 65% of cases, and the cardiac calsequestrin (CASQ2) gene (1p13.3-p11) seen much less frequently in approximately 2% of CPVT cases. Mutations of the KCNJ2 gene (17q24.3), which in the majority of cases are linked with Andersen syndrome, can produce adrenergic-dependent bidirectional tachycardia in the absence (or very mild presence) of other signs of the disease, thus producing a CPVT phenocopy. Screening for the RYR2 mutation (which follows an autosomal dominant pattern of inheritance) is indicated in all CPVT patients. Screening of CASQ2 is indicated with evidence of recessive inheritance, in case of parental consanguinity and in case of negative RYR2 screening.
Links:
OMIM Entry - #611938 - VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2
Orphanet- Catecholinergic polymorphic ventricular tachycardia
OMIM Entry - -114251 - CALSEQUESTRIN 2; CASQ2

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MOLECULAR STUDY CATECHOLINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (RYR2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3896

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically-induced ventricular tachycardia (VT) manifesting as syncope and sudden death. Typical age of onset of CPVT is between 7 and 9 years of age with no sex difference. Syncopal spells, brought on by exercise or acute emotion, are frequently the first symptom observed. Sudden death can be the first manifestation of the disease in a subset of patients (10-20%). The typical arrhythmias of CPVT are bidirectional ventricular tachycardia and, less frequently, supraventricular tachycardia and atrial fibrillation. The two genes responsible for CPVT that have been discovered to date, are the cardiac ryanodine receptor (RYR2) gene (1q43), which is the cause of CPVT in approximately 55% to 65% of cases, and the cardiac calsequestrin (CASQ2) gene (1p13.3-p11) seen much less frequently in approximately 2% of CPVT cases. Mutations of the KCNJ2 gene (17q24.3), which in the majority of cases are linked with Andersen syndrome, can produce adrenergic-dependent bidirectional tachycardia in the absence (or very mild presence) of other signs of the disease, thus producing a CPVT phenocopy. Screening for the RYR2 mutation (which follows an autosomal dominant pattern of inheritance) is indicated in all CPVT patients. Screening of CASQ2 is indicated with evidence of recessive inheritance, in case of parental consanguinity and in case of negative RYR2 screening.
Links:
OMIM Entry - #604772 - VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND-OR DILATED CARDIOMYOPATHY; CPVT1
Orphanet- Catecholinergic polymorphic ventricular tachycardia
OMIM Entry - -180902 - RYANODINE RECEPTOR 2; RYR2

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MOLECULAR STUDY ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA (JUP, DSP) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3895

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. ARVC/D is a major cause of sudden death in the young and in athletes. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The causative genes (ACTN2, DSC2, DSG2, DSP, JUP, TMEM43, LDB3, PKP2, RYR2, TGFB3) encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin) and account for intercalated disk remodeling. Familial occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been reported. Recessive variants associated with palmoplantar keratoderma and woolly hair have also been described.
Links:
Orphanet- Arrhythmogenic right ventricular dysplasia
OMIM Entry - -125647 - DESMOPLAKIN; DSP
OMIM Entry - -173325 - JUNCTION PLAKOGLOBIN; JUP

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MOLECULAR STUDY ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA (PKP2, DSP, DSG2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3894

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. ARVC/D is a major cause of sudden death in the young and in athletes. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The causative genes (ACTN2, DSC2, DSG2, DSP, JUP, TMEM43, LDB3, PKP2, RYR2, TGFB3) encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin) and account for intercalated disk remodeling. Familial occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been reported. Recessive variants associated with palmoplantar keratoderma and woolly hair have also been described.
Links:
Orphanet- Arrhythmogenic right ventricular dysplasia
OMIM Entry - -125647 - DESMOPLAKIN; DSP
OMIM Entry - -125671 - DESMOGLEIN 2; DSG2
OMIM Entry - -602861 - PLAKOPHILIN 2; PKP2

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MOLECULAR STUDY MARFAN SYNDROME TYPE 1 AND 2 (FBN1, TGFBR1, TGFBR2) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3892

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Next Generation Sequencing (NGS)
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. Symptoms can appear at any age and vary greatly between individuals even within the same family. In the vast majority of cases, Marfan syndrome is caused by mutations of the FBN1 gene (15q21), which codes for fibrilline-1, a protein essential for connective tissues. Transmission is autosomal dominant. Some sporadic cases have been reported. Prognosis depends on the degree of aortic involvement. Loeys-Dietz syndrome (Marfan syndrome type 2) is a recently described syndrome characterized by the association of aortic aneurysms, hypertelorism (widely spaced eyes), cleft palate and/or bifid uvula and generalized arterial tortuosity. Other findings include craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree. The mode of inheritance is autosomal dominant with variable clinical expression. Causative mutations have recently been identified in the TGFBR1 and TGFBR2 genes, located on chromosome 9q22 and chromosome 3p22, respectively.
Links:
LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A - OMIM Result
LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B - OMIM Result
LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A - OMIM Result
LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B - OMIM Result
MARFAN SYNDROME; MFS - OMIM Result
Orphanet Aortic aneurysm syndrome Loeys Dietz type Marfan syndrome type 2
Orphanet Aortic aneurysm syndrome Loeys Dietz type
Orphanet Marfan syndrome Marfan syndrome type 1
FIBRILLIN 1; FBN1 - OMIM Result
TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1 - OMIM Result
TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2 - OMIM Result

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