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Skeletal System
230 products available
R-158S245
Distal renal tubular acidosis
R-158S246
Generalised and proximal renal tubular acidosis
R-196S290
Acromatopsia
R-178
Agenesis - dysplasia of the corpus callosum
R-206
Oculocutaneous albinism
R-118S218
Alpha Thalassaemia (HBA1 and HBA2)
R-196S291
Leber's congenital amaurosis
R-141
Primary amenorrhoea
R-103
Familial amyloidosis (TTR)
R-118
Haemolytic anaemia extended analysis
R-176S259
Cerebral amyloid angiopathy (CAA)
R-218
Aortopathies
R-101
Arrhythmias extended analysis
R-101S201
Ventricular arrhythmias
R-217
Arthrogryposis
R-177S266
Episodic ataxia
R-177
Ataxia extended analysis
R-177S267
Spastic ataxia
R-208
Optic atrophy extended analysis
R-120S223
Self-inflammation
R-216S295
Brachydactyly
R-144
Short stature
R-118S219
Beta Thalassaemia (HBB)
R-162
CAKUT (Congenital Abnormalities of the Kidney and Urinary Tract)
R-102S209
Arrhythmogenic cardiomyopathy
R-102S207
Non-syndromic dilated cardiomyopathy
R-102S307
Syndromic dilated cardiomyopathy
R-102S208
Non-syndromic hypertrophic cardiomyopathy
R-102S308
Syndromic hypertrophic cardiomyopathy
R-102S210
Restrictive cardiomyopathy
R-102
Cardiomyopathies extended analysis
R-106S309
Non-syndromic heart disease
R-106S310
Syndromic heart disease
R-198
Congenital cataract
R-196S292
Stationary night blindness
R-182
Ceroidolipofuscinosis
R-111
Palmoplantar keratoderma
R-138
Chylomicronemia
R-188
Ciliopathies extended analysis
R-158S243
Cystinuria
R-152
Cholelithiasis
R-145S233
Familial intrahepatic cholestasis
R-145
Cholestasis extended analysis
R-107S215
Collagenopathies with vascular involvement
R-107
Collagenopathies extended analysis
R-202
Coloboma, anophthalmia and microphthalmia
R-184S268
Korea
R-216S302
Craniosynostosis
R-136
Vitamin B12 deficiency
R-176S262
Lysosomal storage dementia
R-176S263
Frontotemporal dementia
R-176S260
Familial vascular dementia
R-176
Dementias extended analysis
R-125S225
Childhood-onset diabetes
R-125S228
Diabetes at neonatal onset
R-125S226
Insulin-resistant diabetes
R-125
Diabetes extended analysis
R-123
Diamond-Blackfan Anaemia
R-151
Congenital diarrhoea
R-106
Heart disease extended analysis
R-118S217
Red blood cell enzyme defects and related metabolic disorders
R-145S232
Defects in bile acid conjugation and transport
R-119S221
Defects in platelet function
R-145S231
Defects in bile acid synthesis
R-188S303
Primary ciliary dyskinesia
R-201
Dysgenesis of the anterior segment of the eye
R-126
Dyslipidaemia extended analysis
R-166
Hepatorenal cystic disorders
R-119S220
Coagulation factor disorders
R-175
Disorders of small cerebral vessels - stroke
R-128
Sexual differentiation disorders
R-184
Extrapyramidal movement disorders extended analysis
R-169
Neurodevelopmental disorders
R-119
Coagulation and platelet disorders extended analysis
R-137
Glycosylation disorders
R-135
Lysosomal disorders
R-185
Paroxysmal movement disorders
R-134
Peroxisomal disorders
R-219
Ectodermal dysplasia
R-216S296
Bone dysplasias / dysostoses
R-184S269
Dystonia
R-191S280
Caterpillar dystrophy
R-196S293
Cones and rods dystrophy
R-199
Corneal dystrophies
R-191S306
Muscular dystrophies
R-196
Non-syndromic retinal dystrophies extended analysis
R-207
Ectopia lentis
R-26S301
Ectrodactyly
R-186
Monogenic migraine
R-146
Haemochromatosis
R-170S249
Glycine encephalopathy
R-170S248
Epileptic encephalopathy
R-108
Epidermolysis bullosa
R-170S247
Benign neonatal epilepsy
R-170S252
Temporal lobe epilepsy
R-170S255
Pyridoxine-dependent epilepsy
R-170S250
Febrile epilepsy
R-170S251
Focal epilepsy
R-170S253
Myoclonic epilepsy
R-170S254
Nocturnal epilepsy
R-170
Syndromic and non-syndromic epilepsy extended analysis
R-124
Erythrocytosis and polyglobulia
R-100
Heterotaxy
R-171
Periventricular nodular heterotopia
R-156
Polycystic liver
R-211
Paraganglioma pheochromocytoma
R-101S200
Atrial fibrillation
R-147
Hepatic fibrosis
R-214
Pulmonary fibrosis
R-196S286
Fundus albipunctatus, retinitis punctata albescens
R-176S258
Basal ganglia: ganglion degeneration
R-200
Congenital glaucoma
R-192
Glycogenosis
R-158S241
Renal glycosuria
R-120
Immunodeficiency and autoinflammation extended analysis
R-115
Incontinentia pigmenti (IKBKG)
R-149
Early onset intestinal inflammation (VEO-IBD)
R-154
Acute childhood liver failure
R-168
Overgrowth
R-153
Hyperbilirubinemia
R-129
Hypercalcaemia
R-126S229
Familial hypercholesterolaemia
R-132
Hyperphenylalaninemia
R-131
Hyperinsulinism
R-158S244
Primary hyperoxaluria
R-133
Hyperparathyroidism
R-142
Classical congenital adrenal hyperplasia due to 21-hydroxylase (CYP21A2) deficiency
R-148
Hypertransaminasemia
R-159
Hyperuricaemia
R-213
Non-syndromic hypoacusis
R-143
Hypobeta-abeta-lipoproteinemia
R-130
Hypoglycaemia
R-140
Hypogonadism and Kallmann syndrome
R-158S239
Hypomagnesemia
R-179
Cerebellar hypoplasia
R-109
Ichthyosis
R-176S261
Adult-onset leukodystrophy
R-172
Leukodystrophy and leukoencephalopathy
R-173
Lissencephaly
R-176S265
Alzheimer's disease
R-104
Fabry disease (GLA)
R-176S264
Niemann-Pick disease type C (NPC1 and NPC2)
R-196S287
Stargardt's disease and macular dystrophies
R-187
Motor neuron diseases extended analysis
R-163
Tubulo-interstitial diseases
R-183
Cortical malformations
R-216
Skeletal malformations extended analysis
R-174
Microcephaly
R-194
Facio-scapulohumeral myopathy type 1
R-195
Facio-scapulohumeral myopathy type 2
R-191S281
Congenital myopathies
R-191S279
Distal myopathies
R-191S282
Metabolic and mitochondrial myopathies
R-191
Myopathies extended analysis
R-193
Dystrophic myotonia type 1, search for DMPK expansions
R-191S284
Non-dystrophic myotonia
R-180
Mitochondriopathies (nuclear genes)
R-125S224
MODY maturity-onset diabetes of the young
R-113
Monilethrix
R-216S297
Primordial dwarfism
R-160
Nephrocalcinosis and nephrolithiasis
R-158S242
Nephrolithiasis
R-188S304
Nephronophthisis
R-212
Multiple endocrine neoplasia
R-176S257
Neurodegeneration with iron accumulation
R-116
Neurofibromatosis (NF1 and NF2)
R-208S94
Leber's optic neuropathy
R-190
Sensory autonomic neuropathies
R-187S273
Distal motor neuropathy and SMA
R-189S278
Sensorimotor neuropathies: Axonal, demyelinating and intermediate CMTs
R-189
Sensory-motor and distal neuropathies extended analysis
R-197
Congenital nystagmus
R-102S206
Non-compaction left ventricle
R-127
Non-syndromic obesity
R-216S298
Osteogenesis imperfecta
R-216S299
Osteopetrosis
R-150
Pancreatitis
R-191S285
Periodic paralysis
R-187S272
Spastic paraplegia
R-184S270
Parkinsonism
R-205
Piebaldism
R-216S300
Polydactyly / syndactyly / triphalangism
R-139
Porphyria
R-157
Proteinuria extended analysis
R-110
Elastic pseudoexantoma
R-167
Pseudoipoaldosteronism
R-158S240
Hypophosphatemic rickets
R-215
Vitamin D dependent rickets
R-105
Rasopathies and Noonan syndrome
R-164
Dominant polycystic kidney
R-165
Polycystic kidney dominant (PKD1 and PKD2)
R-196S288
Retinitis pigmentosa
R-187S271
Amyotrophic lateral sclerosis (ALS)
R-117
Tuberous sclerosis (TSC1 and TSC2)
R-118S216
Spherocytosis, Ellipsocytosis and Stomatocytosis, defects in the membrane and cytoskeleton of red blood cells
R-101S202
Short QT syndrome
R-102S203
Long QT syndrome
R-145S230
Alagille syndrome - paucity of bile ducts
R-157S213
Alport syndrome
R-188S274
Bardet-Biedl syndrome
R-158S235
Bartter's syndrome
R-101S204
Brugada Syndrome
R-155
Coach Syndrome
R-158S236
Dent's syndrome
R-170S256
Doose Syndrome
R-107S211
Ehlers-Danlos syndrome
R-158S238
Gitelman syndrome
R-158S237
Gordon syndrome, familial hypertension with hyperkalemia
R-188S305
Jeune and short rib syndromes
R-188S275
Joubert's syndrome
R-107S212
Marfan syndrome
R-188S276
Meckel's syndrome
R-188S277
Senior Loken Syndrome
R-107S214
Stickler syndrome
R-203
Usher Syndrome
R-204
Waardenburg Syndrome
R-191S283
Myasthenic syndrome
R-157S234
Corticoresistant nephrotic syndrome
R-112
Peeling skin syndrome
R-161
Haemolytic uremic syndrome
R-121
Vexas syndrome (UBA1)
R-181
Mitochondrial DNA depletion syndromes (nuclear genes)
R-101S205
Catecholaminergic polymorphic ventricular tachycardia
R-122
Hemorrhagic telangiectasia
R-119S222
Thrombocytopenia
R-158
Tubulopathies extended analysis
R-209
Hereditary breast and ovarian cancer (BRCA1 and BRCA2)
R-210
Hereditary tumours
R-196S289
Vitreoretinopathy
R-114
Xeroderma pigmentosum