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64 Result(s)

List of diseases tested (547)

12q14 microdeletion syndrome
19p13.3 microduplication syndrome
3C syndrome
3M syndrome
ATTRV30M amyloidosis
Acrocallosal syndrome
Acute inflammatory demyelinating polyradiculoneuropathy
Adult-onset autosomal dominant leukodystrophy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset distal myopathy due to VCP mutation
Allan-Herndon-Dudley syndrome
Alpers-Huttenlocher syndrome
Alpha-B crystallin-related late-onset myopathy
Alström syndrome
Amish nemaline myopathy
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 4
Aneurysm-osteoarthritis syndrome
Angelman syndrome
Angelman syndrome due to a point mutation
Angelman syndrome due to imprinting defect in 15q11-q13
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-oculomotor apraxia type 4
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant limb-girdle muscular dystrophy type 1G
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant polycystic kidney disease
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant slowed nerve conduction velocity
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 42
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 8
Autosomal recessive Charcot-Marie-Tooth disease type 2X
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia, Beauce type
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2G
Autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive limb-girdle muscular dystrophy type 2R
Autosomal recessive limb-girdle muscular dystrophy type 2S
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2U
Autosomal recessive limb-girdle muscular dystrophy type 2W
Autosomal recessive limb-girdle muscular dystrophy type 2X
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive non-syndromic intellectual disability
Autosomal recessive polycystic kidney disease
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 18
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 28
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 48
Autosomal recessive spastic paraplegia type 53
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 55
Autosomal recessive spastic paraplegia type 56
Autosomal recessive spastic paraplegia type 57
Autosomal recessive spastic paraplegia type 59
Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spastic paraplegia type 60
Autosomal recessive spastic paraplegia type 61
Autosomal recessive spastic paraplegia type 62
Autosomal recessive spastic paraplegia type 63
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 66
Autosomal recessive spastic paraplegia type 67
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70
Autosomal recessive spastic paraplegia type 71
Autosomal recessive spastic paraplegia type 76
Autosomal spastic paraplegia type 30
Autosomal spastic paraplegia type 58
Autosomal spastic paraplegia type 72
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
BOR syndrome
Bardet-Biedl syndrome
Becker muscular dystrophy
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to NSD1 mutation
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Behavioral variant of frontotemporal dementia
Benign Samaritan congenital myopathy
Berardinelli-Seip congenital lipodystrophy
Bethlem myopathy
Bilateral multicystic dysplastic kidney
Bilateral parasagittal parieto-occipital polymicrogyria
Bloom syndrome
Cap myopathy
Cataract-intellectual disability-hypogonadism syndrome
Central core disease
Central precocious puberty
Cerebellar ataxia-hypogonadism syndrome
Channelopathy-associated congenital insensitivity to pain
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2B5
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2S
Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset nemaline myopathy
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Classic multiminicore myopathy
Cone rod dystrophy
Congenital cataract-hearing loss-severe developmental delay syndrome
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital fiber-type disproportion myopathy
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital insensitivity to pain with severe intellectual disability
Congenital lethal myopathy, Compton-North type
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy without intellectual disability
Congenital muscular dystrophy, Fukuyama type
Congenital muscular dystrophy, Ullrich type
Congenital myasthenic syndromes with glycosylation defect
Congenital myopathy with excess of thin filaments
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with myasthenic-like onset
Congenital myopathy, Paradas type
Costello syndrome
Cystinuria
DEND syndrome
DNA2-related mitochondrial DNA deletion syndrome
DNAJB2-related Charcot-Marie-Tooth disease type 2
DPM1-CDG
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Dejerine-Sottas syndrome
Desmin-related myopathy with Mallory body-like inclusions
Desminopathy
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Distal anoctaminopathy
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy type 7
Distal hereditary motor neuropathy, Jerash type
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Distal myopathy, Tateyama type
Distal myopathy, Welander type
Distal myotilinopathy
Distal nebulin myopathy
Dravet syndrome
Duchenne and Becker muscular dystrophy
Duchenne muscular dystrophy
Early infantile epileptic encephalopathy
Early-onset myopathy with fatal cardiomyopathy
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Fabry disease
Familial Chilblain lupus
Familial abdominal aortic aneurysm
Familial aortic dissection
Familial dysautonomia
Familial episodic pain syndrome with predominantly lower limb involvement
Familial episodic pain syndrome with predominantly upper body involvement
Familial thoracic aortic aneurysm and aortic dissection
Farber disease
Fatal infantile hypertonic myofibrillar myopathy
Fatty acid hydroxylase-associated neurodegeneration
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Floating-Harbor syndrome
Fragile X syndrome
Fragile X-associated tremor/ataxia syndrome
Friedreich ataxia
Frontotemporal dementia with motor neuron disease
GNE myopathy
Generalized epilepsy with febrile seizures-plus
Giant axonal neuropathy
Glycogen storage disease due to LAMP-2 deficiency
Growth delay due to insulin-like growth factor I resistance
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary myopathy with early respiratory failure
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary neuropathy with liability to pressure palsies
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
Hereditary sensory and autonomic neuropathy type 6
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory neuropathy-deafness-dementia syndrome
Herpes simplex virus encephalitis
Hidrotic ectodermal dysplasia, Halal type
Huntington disease-like syndrome due to C9ORF72 expansions
Hyaline body myopathy
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hydrolethalus
Hyperinsulinism due to glucokinase deficiency
IMAGe syndrome
Idiopathic central precocious puberty
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile nephronophthisis
Infantile onset spinocerebellar ataxia
Infantile-onset X-linked spinal muscular atrophy
Infantile-onset ascending hereditary spastic paralysis
Inherited congenital spastic tetraplegia
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Intermediate DEND syndrome
Intermediate nemaline myopathy
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Isolated asymptomatic elevation of creatine phosphokinase
Jeune syndrome
Joubert syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juvenile amyotrophic lateral sclerosis
Juvenile nephronophthisis
Juvenile primary lateral sclerosis
KBG syndrome
Kagami-Ogata syndrome
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Kearns-Sayre syndrome
Kennedy disease
King-Denborough syndrome
Laing early-onset distal myopathy
Laminin subunit alpha 2-related congenital muscular dystrophy
Langer mesomelic dysplasia
Late-onset distal myopathy, Markesbery-Griggs type
Late-onset nephronophthisis
Laurence-Moon syndrome
Leber congenital amaurosis
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Lethal ataxia with deafness and optic atrophy
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Limb-girdle muscular dystrophy due to POMK deficiency
Loeys-Dietz syndrome
Lower motor neuron syndrome with late-adult onset
Léri-Weill dyschondrosteosis
MASA syndrome
MME-related autosomal dominant Charcot Marie Tooth disease type 2
MODY
MYH7-related late-onset scapuloperoneal muscular dystrophy
Malan overgrowth syndrome
Malignant hyperthermia of anesthesia
Marfan syndrome type 1
Marfan syndrome type 2
Marinesco-Sjögren syndrome
Marshall-Smith syndrome
Maternal uniparental disomy of chromosome 16
Maternal uniparental disomy of chromosome 20
McKusick-Kaufman syndrome
Meckel syndrome
Megaconial congenital muscular dystrophy
Menkes disease
Micro syndrome
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Mild phosphoribosylpyrophosphate synthetase superactivity
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial membrane protein-associated neurodegeneration
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial neurogastrointestinal encephalomyopathy
Miyoshi myopathy
Moderate multiminicore disease with hand involvement
Monomelic amyotrophy
Mulibrey nanism
Multiple epiphyseal dysplasia, Al-Gazali type
Multisystemic smooth muscle dysfunction syndrome
Muscle filaminopathy
Muscle-eye-brain disease
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscular dystrophy, Selcen type
Myosclerosis
Myotonic dystrophy
Myxofibrosarcoma
NON RARE IN EUROPE: Primary ovarian failure
NON RARE IN EUROPE: Unexplained intellectual disability
NPHP3-related Meckel-like syndrome
Native American myopathy
Neonatal Marfan syndrome
Neuralgic amyotrophy
Neurogenic scapuloperoneal syndrome, Kaeser type
Nijmegen breakage syndrome
Noonan syndrome
Null syndrome
Oculopharyngeal muscular dystrophy
Orofaciodigital syndrome type 2
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 6
PEHO syndrome
Paroxysmal extreme pain disorder
Partial duplication of chromosome 6
Partial pancreatic agenesis
Paternal uniparental disomy of chromosome 20
Paternal uniparental disomy of chromosome 7
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Perlman syndrome
Permanent neonatal diabetes mellitus
Perry syndrome
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 9
Posterior column ataxia-retinitis pigmentosa syndrome
Prader-Willi syndrome
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Primary ciliary dyskinesia
Primary dystonia, DYT27 type
Primary erythromelalgia
Primary lateral sclerosis
Progressive myoclonic epilepsy type 5
Progressive non-fluent aphasia
Progressive scapulohumeroperoneal distal myopathy
Proximal myopathy with extrapyramidal signs
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoparathyroidism type 1B
REN-related autosomal dominant tubulointerstitial kidney disease
Rare chromosomal anomaly
Rare genetic disease
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Recessive mitochondrial ataxia syndrome
Reducing body myopathy
Renal agenesis, bilateral
Renal agenesis, unilateral
Renal coloboma syndrome
Renal hypoplasia, bilateral
Renal tubular dysgenesis of genetic origin
Renal-hepatic-pancreatic dysplasia
Retinitis pigmentosa
Rigid spine syndrome
Rippling muscle disease
Roussy-Lévy syndrome
SHORT syndrome
SHOX-related short stature
SURF1-related Charcot-Marie-Tooth disease type 4
Saldino-Mainzer syndrome
Sanfilippo syndrome type B
Scapuloperoneal spinal muscular atrophy
Semantic dementia
Senior-Boichis syndrome
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Severe X-linked mitochondrial encephalomyopathy
Severe congenital nemaline myopathy
Severe early-onset axonal neuropathy due to MFN2 deficiency
Severe intellectual disability and progressive spastic paraplegia
Severe neurodegenerative syndrome with lipodystrophy
Severe phosphoribosylpyrophosphate synthetase superactivity
Silver-Russell syndrome
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to a point mutation
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Simpson-Golabi-Behmel syndrome
Sodium channelopathy-related small fiber neuropathy
Sotos syndrome
Spastic paraplegia type 2
Spastic paraplegia type 7
Spastic paraplegia-Paget disease of bone syndrome
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spheroid body myopathy
Spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 17
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 3
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Spinocerebellar ataxia type 8
Spinocerebellar ataxia with axonal neuropathy type 1
Spinocerebellar ataxia with axonal neuropathy type 2
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Temple syndrome due to maternal uniparental disomy of chromosome 14
Tibial muscular dystrophy
Transient neonatal diabetes mellitus
Triple A syndrome
Tubular aggregate myopathy
Typical nemaline myopathy
UMOD-related autosomal dominant tubulointerstitial kidney disease
Undetermined early-onset epileptic encephalopathy
Unilateral multicystic dysplastic kidney
Uniparental disomy of chromosome 11
Uniparental disomy of chromosome 15
Uniparental disomy of chromosome 6
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Vascular Ehlers-Danlos syndrome
Vocal cord and pharyngeal distal myopathy
Walker-Warburg syndrome
Weaver syndrome
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 4
X-linked Charcot-Marie-Tooth disease type 5
X-linked Charcot-Marie-Tooth disease type 6
X-linked Emery-Dreifuss muscular dystrophy
X-linked centronuclear myopathy
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
X-linked distal spinal muscular atrophy type 3
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked non-syndromic intellectual disability
X-linked progressive cerebellar ataxia
X-linked scapuloperoneal muscular dystrophy
Young adult-onset distal hereditary motor neuropathy
Zebra body myopathy
5
T

List of genes tested (including panels) (432)

AAAS
AARS
ABCC8
ABHD12
ACE
ACTA1
ACTA2
AGT
AGTR1
AHI1
AIFM1
ALMS1
ALS2
AMPD2
ANG
ANKRD11
ANO5
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
AR
ARHGEF10
ARL13B
ARL6
ARL6IP1
ARSI
ASAH1
ATL1
ATL2
ATL3
ATP7A
ATXN1
ATXN10
ATXN2
ATXN3
ATXN7
ATXN8OS
B4GALNT1
B4GAT1
B9D1
B9D2
BAG3
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BICD2
BIN1
BLM
BMP4
BRAF
BRCA1
BRCA2
BSCL2
BVES
C12ORF65
C19ORF12
C8ORF37
C9ORF72
CACNA1A
CAPN1
CAPN3
CASQ1
CAV3
CAVIN1
CC2D2A
CCDC78
CCNF
CDKN1C
CEP104
CEP120
CEP290
CEP41
CFAP410
CFL2
CHCHD10
CHD1L
CHKB
CHMP2B
CLTCL1
CNBP
CNTN1
COL12A1
COL3A1
COL6A1
COL6A2
COL6A3
COX6A1
CPLANE1
CRPPA
CRYAB
CSPP1
CTDP1
CUL7
CYP2U1
CYP7B1
DAG1
DCAF8
DCTN1
DDHD1
DDHD2
DES
DGAT1
DHTKD1
DIS3L2
DLK1
DMD
DMPK
DNA2
DNAJB2
DNAJB6
DNM2
DNMT1
DPM1
DPM2
DST
DSTYK
DYNC1H1
DYSF
DZIP1L
EGR2
ELP1
EMD
ENTPD1
ERBB4
ERLIN1
ERLIN2
EXOC8
EXOSC3
EXOSC8
EYA1
FA2H
FBLN5
FBN1
FBXO38
FGD4
FHL1
FIG4
FKBP14
FKRP
FKTN
FLNC
FLVCR1
FMR1
FUS
FXN
GAD1
GAN
GANAB
GARS
GATA3
GBA2
GCK
GDAP1
GJB1
GJC2
GLA
GLE1
GLI3
GMPPA
GMPPB
GNAS
GNB4
GNE
GPC3
GPC4
H19
HACD1
HARS
HINT1
HK1
HMGA2
HNF1B
HNRNPA1
HNRNPA2B1
HNRNPDL
HRAS
HSPB1
HSPB3
HSPB8
HSPD1
HYLS1
HYMAI
IFT172
IFT27
IFT74
IFT88
IGF1R
IGF2
IGHMBP2
INF2
INPP5E
INS
INVS
ISCU
ITGA7
ITGA8
KARS
KBTBD13
KCNA2
KCNIP1
KCNJ11
KIAA0556
KIAA0586
KIF14
KIF1A
KIF1B
KIF1C
KIF5A
KIF7
KLC2
KLHL40
KLHL41
KRAS
L1CAM
LAMA2
LAMP2
LARGE1
LDB3
LGMD1H
LIMS2
LITAF
LMNA
LMNB1
LMOD3
LRSAM1
LZTFL1
MARS
MATR3
MED25
MEG3
MEGF10
MFN2
MICU1
MKKS
MKS1
MME
MORC2
MPZ
MTM1
MTMR2
MYF6
MYH11
MYH2
MYH7
MYLK
MYOT
NAGLU
NBN
NDRG1
NEB
NEFH
NEFL
NEK1
NFIX
NGF
NIPA1
NPHP1
NPHP3
NSD1
NT5C2
NTRK1
OFD1
OPA1
OPTN
ORAI1
PABPN1
PAX2
PDE6D
PDK3
PDPR
PDX1
PFN1
PGAP1
PIK3R1
PKD1
PKD2
PKHD1
PLEC
PLEKHG5
PLP1
PMP22
PNKP
PNPLA6
POC1B
POLG
POLG2
POMGNT1
POMK
POMT1
POMT2
PRDM12
PRPH
PRPS1
PRX
PTPN11
PUS1
RAB3GAP2
RAB7A
RAF1
REEP1
REEP2
REN
RET
RETREG1
RIT1
RNF170
ROBO2
RPGRIP1L
RRM2B
RTL1
RTN2
RXYLT1
RYR1
SALL1
SBF1
SBF2
SCN10A
SCN11A
SCN9A
SDCCAG8
SELENON
SEPT9
SETX
SGCA
SGCB
SGCD
SGCG
SH3TC2
SHOX
SIGMAR1
SIL1
SLC16A2
SLC25A46
SLC33A1
SLC3A1
SLC5A1
SLC7A9
SMAD3
SMN1
SNRPN
SOD1
SOS1
SOX10
SPART
SPAST
SPEG
SPG11
SPG21
SPG7
SPTLC1
SPTLC2
SQSTM1
SRCAP
STAC3
STIM1
STX16
SUCLA2
SURF1
SYNE1
SYNE2
TAF15
TARDBP
TBK1
TBP
TBX18
TCAP
TCTN1
TCTN2
TCTN3
TDP1
TECPR2
TFG
TGFB2
TGFBR1
TGFBR2
TGM4
TIA1
TK2
TMEM107
TMEM138
TMEM173
TMEM216
TMEM231
TMEM237
TMEM43
TMEM67
TNNT1
TNPO3
TOR1AIP1
TPM2
TPM3
TRAPPC11
TRIM2
TRIM32
TRIM37
TRPA1
TRPV4
TSEN54
TTC21B
TTC8
TTN
TTR
TUBA4A
TWNK
UBA1
UBE3A
UBQLN2
UMOD
USP8
VAPB
VCP
VMA21
VPS37A
VRK1
WASHC5
WDPCP
WDR48
WNK1
YARS
YARS2
ZFR
ZFYVE26
ZFYVE27
ZNF423
By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (64)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of proximal spinal muscular atrophy (SMN1 gene)
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of autosomal recessive polycystic kidney disease (DZIP1L, PKHD1 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of autosomal dominant polycystic kidney disease (GANAB, PKD1 and PKD2 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of cystinuria (SLC3A1 and SLC7A9 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of uniparental disomy of chromosomes 6, 7, 11, 14, 15, 16 and 20
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, Microsatellite analysis

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of fragile X syndrome (FMR1 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of familial juvenile hyperuricemic nephropathy type 1 (UMOD gene)
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Meckel syndrome (NGS screening panel, 13 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of myopathies (NGS screening panel: 60 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of nephronophthisis (INVS, NPHP1 and NPHP3 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of renal tubular dysgenesis (ACE, AGT, AGTR1 and REN genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of spinal muscular atrophy with respiratory distress (IGHMBP2 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Bardet-Biedl syndrome (NGS screening panel: 21 genes)
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Joubert syndrome type 1-9 (AHI1, ARL13B, CEP290, CC2D2A, INPP5E, NPHP1, RPGRIP1L, TMEM216, TMEM67 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of renal cysts and diabetes syndrome (HNF1B gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of hereditary motor and sensory neuropathy (NGS screening panel, 68 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of distal hereditary motor neuropathy type 5 (BSCL2 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Charcot-Marie-Tooth disease type 2A2, B, B1, C, D, E, F, H, I, J, K, M, N (AARS, DNM2, GARS, GDAP1, HSPB1, LMNA, MFN2, MPZ, NEFL, RAB7A, TRPV4 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Charcot-Marie-Tooth disease type 4A, C, E, F (EGR2, GDAP1, PRX, SH3TC2 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Charcot-Marie-Tooth disease type 1A-C, 1E and 1F (LITAF, MPZ, NEFL, PMP22 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of dominant intermediate Charcot-Marie-Tooth disease type B, D (DNM2, MPZ genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of X linked Charcot-Marie-Tooth syndrome type 1 (GJB1 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of premature ovarian failure (FMR1 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis, Protein expression
Technique(s) : PCR based techniques, Western Blot

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of caveolinopathies (CAV3 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of myotonic dystrophy 1 and 2 (CNBP and DMPK genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, Microsatellite analysis

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of spinal and bulbar muscular atrophy of Kennedy (AR gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of spinocerebellar ataxia type 1, 2, 3, 6, 7, 8 and 17 (ATXN1-3, ATXN7, ATXN8OS, CACNA1A, TBP genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of autosomal dominant tubulointerstitial kidney disease (UMOD, REN genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of renal agenesis/renal hypoplasia (EYA1, ITGA8, HNF1B, PAX2, RET genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Array-CGH in case of unexplained intellectual disability
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Cytogenetic lab for conventional and molecular cytogenetic chromosome analysis
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of neonatal diabetes mellitus (ABCC8, GCK, HYMAI, INS, KCNJ11, PDX1 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Array based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of infantile X-linked spinal muscular atrophy SMAX2 (UBA1 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (BICD2 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of pseudohypoparathyroidism (GNAS and STX16 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of pontocerebellar hypoplasia type 1, 2A, 4 und 5 (EXOSC3, TSEN54 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Array based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of predisposition to breast and ovarian cancer (BRCA1 and BRCA2 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Fabry disease (GLA gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Marfan syndrome and related diseases (NGS panel, 9 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of amyotrophic lateral sclerosis (NGS screening panel: 30 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of hereditary spastic paraplegia (NGS screening panel, 55 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of hereditary sensory and autonomic neuropathies / pain associated disorder (NGS panel, 30 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of neurogenetic and neuromuscular diseases (NGS panel - 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of TTR-related amyloid neuropathy (TTR gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of syndromal ciliopathies (NGS panel, 70 genes)
Universitätsklinikum Aachen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of spinal and bulbar muscular atrophy (NGS panel, 23 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of muscular dystrophy including limb girdle dystrophies (NGS screening panel, 43 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of congenital anomalies of the kidney and urinary tract (CAKUT) (NGS screening panel: 10 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Prader-Willi syndrome
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Friedreich ataxia (FXN gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of SHOX-gene associated short stature
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Noonan syndrome (BRAF, KRAS, PTPN11, RAF1, RIT1, SOS1 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Angelman syndrome (UBE3A gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Marinesco-Sjögren syndrome (SIL1 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of sodium channelopathy-related small fiber neuropathy (SCN9A, SCN10A, SCN11A genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of familial episodic pain syndrome with predominantly upper body involvement (TRPA1 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Imprinting syndromes and related disorders (NGS screening panel, 24 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Beckwith-Wiedemann syndrome (CDKN1C, H19, IGF2, NSD1 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Silver-Russell syndrome (CDKN1C, H19, IGF2 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Array based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Temple syndrome (DLK1, MEG3, RTL1 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of Kagami-Ogata syndrome (DLK1, MEG3, RTL1 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques