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Health in Code

General information

Health in Code

A Coruña
Galicia
Spain
http://www.healthincode.com/
Organization ID: 320229

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 4

Gene

GeneSubmissionsLast Updated
CSRP31Jul 30, 2020
FBN11Nov 27, 2017
KCNQ11Oct 28, 2020
MYBPC31Nov 8, 2021

Condition

NameSubmissionsLast Updated
Hypertrophic cardiomyopathy2Nov 8, 2021
Jervell and Lange-Nielsen syndrome 11Oct 28, 2020
Marfan syndrome1Nov 27, 2017

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 21 test
Acromicric dysplasia3 tests
Adams-Oliver syndrome 52 tests
Andersen Tawil syndrome1 test
Aneurysm-osteoarthritis syndrome2 tests
Aortic aneurysm, familial thoracic 42 tests
Aortic aneurysm, familial thoracic 63 tests
Aortic aneurysm, familial thoracic 72 tests
Aortic aneurysm, familial thoracic 82 tests
Aortic valve disease 12 tests
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma2 tests
Arrhythmogenic right ventricular cardiomyopathy5 tests
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 102 tests
Arrhythmogenic right ventricular dysplasia 112 tests
Arrhythmogenic right ventricular dysplasia 122 tests
Arrhythmogenic right ventricular dysplasia 131 test
Arrhythmogenic right ventricular dysplasia 22 tests
Arrhythmogenic right ventricular dysplasia 53 tests
Arrhythmogenic right ventricular dysplasia 82 tests
Arrhythmogenic right ventricular dysplasia 92 tests
Arterial tortuosity syndrome2 tests
Atrial fibrillation1 test
Atrial fibrillation, familial, 11 test
Atrial fibrillation, familial, 102 tests
Atrial fibrillation, familial, 131 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 41 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 51 test
Atrial septal defect 72 tests
Atrioventricular septal defect, susceptibility to, 21 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Becker muscular dystrophy1 test
Blepharophimosis - intellectual disability syndrome, MKB type1 test
Brugada syndrome2 tests
Brugada syndrome 13 tests
Brugada syndrome 51 test
CBL-related disorder1 test
CIDEC-related familial partial lipodystrophy1 test
Cardiac arrhythmia5 tests
Cardiac valvular dysplasia, X-linked2 tests
Cardiofaciocutaneous syndrome 12 tests
Cardiofaciocutaneous syndrome 23 tests
Cardiofaciocutaneous syndrome 32 tests
Cardiofaciocutaneous syndrome 42 tests
Cardiomyopathy1 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis2 tests
Cardiomyopathy, familial restrictive, 11 test
Cardiomyopathy, familial restrictive, 31 test
Carpal tunnel syndrome1 test
Catecholaminergic polymorphic ventricular tachycardia1 test
Catecholaminergic polymorphic ventricular tachycardia 13 tests
Catecholaminergic polymorphic ventricular tachycardia 22 tests
Charcot-Marie-Tooth disease type 2B12 tests
Chylomicron retention disease1 test
Classic homocystinuria2 tests
Conduction disorder of the heart2 tests
Congenital aneurysm of ascending aorta1 test
Congenital contractural arachnodactyly2 tests
Congenital generalized lipodystrophy type 11 test
Congenital generalized lipodystrophy type 21 test
Congenital generalized lipodystrophy type 31 test
Congenital generalized lipodystrophy type 41 test
Congenital heart disease2 tests
Congenital muscular dystrophy due to LMNA mutation2 tests
Conotruncal heart malformations2 tests
Costello syndrome4 tests
Cutis laxa, autosomal dominant 12 tests
Cutis laxa, autosomal recessive, type 1B1 test
Desmin-related myofibrillar myopathy2 tests
Dilated cardiomyopathy 1A2 tests
Dilated cardiomyopathy 1BB2 tests
Dilated cardiomyopathy 1C2 tests
Dilated cardiomyopathy 1D1 test
Dilated cardiomyopathy 1E2 tests
Dilated cardiomyopathy 1FF1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1I2 tests
Dilated cardiomyopathy 1NN1 test
Dilated cardiomyopathy 1P2 tests
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome2 tests
Distal myopathy with posterior leg and anterior hand involvement1 test
Distal myopathy, Tateyama type1 test
Doyne honeycomb retinal dystrophy1 test
Duchenne muscular dystrophy1 test
Early repolarization associated with ventricular fibrillation1 test
Early-onset myopathy with fatal cardiomyopathy1 test
Ectopia lentis 1, isolated, autosomal dominant3 tests
Ectopia lentis 2, isolated, autosomal recessive2 tests
Ectopia lentis et pupillae2 tests
Ehlers-Danlos syndrome, arthrochalasia type2 tests
Ehlers-Danlos syndrome, cardiac valvular type2 tests
Ehlers-Danlos syndrome, classic type2 tests
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type 12 tests
Ehlers-Danlos syndrome, type 32 tests
Ehlers-Danlos syndrome, type 42 tests
Elevated circulating creatine kinase concentration1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant2 tests
Epidermal nevus1 test
FG syndrome 11 test
FG syndrome 22 tests
Fabry disease2 tests
Familial amyloid neuropathy2 tests
Familial hypobetalipoproteinemia1 test
Familial partial lipodystrophy1 test
Familial partial lipodystrophy, Dunnigan type3 tests
Familial restrictive cardiomyopathy4 tests
Fibromatosis, gingival, 12 tests
Fish-eye disease1 test
Frontometaphyseal dysplasia 12 tests
Geleophysic dysplasia 23 tests
Generalized epilepsy with febrile seizures plus, type 11 test
Geroderma osteodysplastica1 test
Glycogen storage disease, type II3 tests
Heart-hand syndrome, Slovenian type2 tests
Heterotopia, periventricular, X-linked dominant2 tests
Hutchinson-Gilford syndrome2 tests
Hypercholesterolemia, familial, 15 tests
Hyperthyroxinemia, dystransthyretinemic1 test
Hypertriglyceridemia 11 test
Hypertrophic cardiomyopathy 14 tests
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 111 test
Hypertrophic cardiomyopathy 131 test
Hypertrophic cardiomyopathy 182 tests
Hypertrophic cardiomyopathy 21 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 41 test
Hypertrophic cardiomyopathy 61 test
Hypertrophic cardiomyopathy 71 test
Hypertrophic cardiomyopathy 81 test
Hypertrophic cardiomyopathy 91 test
Hypoplastic left heart syndrome 22 tests
Hypothyroidism, congenital, nongoitrous, 52 tests
Insulin-resistant diabetes mellitus1 test
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked2 tests
Jervell and Lange-Nielsen syndrome 11 test
Jervell and Lange-Nielsen syndrome 21 test
Juvenile myelomonocytic leukemia2 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
Keratosis palmoplantaris striata 22 tests
LEOPARD syndrome 14 tests
LEOPARD syndrome 21 test
LEOPARD syndrome 32 tests
Large congenital melanocytic nevus1 test
Larsen-like syndrome, B3GAT3 type1 test
Left ventricular noncompaction5 tests
Left ventricular noncompaction 11 test
Left ventricular noncompaction 101 test
Legius syndrome1 test
Lethal acantholytic epidermolysis bullosa2 tests
Lethal congenital glycogen storage disease of heart1 test
Lethal tight skin contracture syndrome3 tests
Linear nevus sebaceous syndrome4 tests
Loeys-Dietz syndrome1 test
Loeys-Dietz syndrome 13 tests
Loeys-Dietz syndrome 23 tests
Loeys-Dietz syndrome 42 tests
Long QT syndrome8 tests
Long QT syndrome 11 test
Long QT syndrome 101 test
Long QT syndrome 21 test
Long QT syndrome 32 tests
Long QT syndrome 51 test
Long QT syndrome 61 test
Long QT syndrome 91 test
MASS syndrome3 tests
MYH7-related skeletal myopathy1 test
Macular degeneration, early-onset2 tests
Mandibuloacral dysplasia with type A lipodystrophy2 tests
Mandibuloacral dysplasia with type B lipodystrophy1 test
Marfan syndrome3 tests
Maturity-onset diabetes of the young type 21 test
Melnick-Needles syndrome2 tests
Metachondromatosis2 tests
Methylcobalamin deficiency type cblE1 test
Moyamoya disease 53 tests
Multisystemic smooth muscle dysfunction syndrome3 tests
Myhre syndrome2 tests
Myofibrillar myopathy 42 tests
Myofibrillar myopathy 51 test
Myopathy2 tests
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myosin storage myopathy1 test
Naxos disease2 tests
Neurocutaneous melanocytosis1 test
Neurogenic scapuloperoneal syndrome, Kaeser type2 tests
Noonan syndrome 14 tests
Noonan syndrome 33 tests
Noonan syndrome 42 tests
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 72 tests
Noonan syndrome-like disorder with loose anagen hair 11 test
Osteogenesis imperfecta type I2 tests
Osteogenesis imperfecta type III2 tests
Osteogenesis imperfecta with normal sclerae, dominant form2 tests
Osteogenesis imperfecta, perinatal lethal2 tests
Oto-palato-digital syndrome, type I2 tests
Oto-palato-digital syndrome, type II2 tests
PLIN1-related familial partial lipodystrophy1 test
PPARG-related familial partial lipodystrophy1 test
Primary dilated cardiomyopathy17 tests
Primary familial hypertrophic cardiomyopathy8 tests
Progressive familial heart block, type 1A2 tests
Pulmonary hypertension, primary, 14 tests
Pulmonary venoocclusive disease 11 test
RASopathy1 test
Rienhoff syndrome3 tests
Rippling muscle disease 21 test
SUDDEN INFANT DEATH SYNDROME2 tests
Short QT syndrome2 tests
Short QT syndrome type 11 test
Short QT syndrome type 21 test
Short QT syndrome type 31 test
Shprintzen-Goldberg syndrome2 tests
Sick sinus syndrome 12 tests
Stiff skin syndrome1 test
Sudden cardiac death3 tests
Supravalvar aortic stenosis2 tests
Syndromic X-linked intellectual disability Raymond type1 test
Tangier disease1 test
Telangiectasia, hereditary hemorrhagic, type 12 tests
Terminal osseous dysplasia-pigmentary defects syndrome2 tests
Tetralogy of Fallot2 tests
Tibial muscular dystrophy1 test
Timothy syndrome1 test
Ventricular fibrillation, paroxysmal familial, type 12 tests
Ventricular septal defect 32 tests
Weill-Marchesani syndrome 2, dominant3 tests
Wolff-Parkinson-White pattern1 test
Woolly hair-skin fragility syndrome2 tests
Wrinkly skin syndrome1 test
X-linked intellectual disability with marfanoid habitus1 test