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Cardio Vascular Disorders
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Vascular Malformations
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Pulmonary hypertension - primary - 3
Pulmonary hypertension - primary - 3
OMIM:
615343
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AGDx NGS – Vascular malformations panel
AGDx NGS – Vascular malformations panel plus CNV
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EpiSign
NGS panel
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Browse the catalog by disorder
Cancer Genetics
Adenomas multiple colorectal
Bannayan-Riley-Ruvalcaba Syndrome
Basal Cell Nevus Syndrome – BCNS – Gorlin syndrome
Birt-Hogg-Dubé (BHD) syndrome
Breast Cancer
Breast-ovarian cancer – familial
Chronic Lymphocytic Leukaemia (CLL)
Cowden Syndrome
Familial Adenomatous Polyposis – FAP1
Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome
Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 1
Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 2
Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 4
Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 5
Hereditary Prostate Cancer – HPC9
Juvenile polyposis syndrome – JPS
Li-Fraumeni syndrome
Li-Fraumeni syndrome (LFS)
Ovarian cancer – familial
Pancreatic Cancer
Peutz-Jeghers syndrome
Polyposis
PTEN hemartoma tumor syndrome
Wilms tumor
Cardio Vascular Disorders
Cardiac Disorders
Amyloidosis hereditary transthyretin-related
Arrhythmogenic right ventricular dysplasia 11
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 5
Arrhythmogenic right ventricular dysplasia 9
Arrhythmogenic right ventricular dysplasia/cardiomyopathy – ARVD – ARVC
Atrial Fibrillation
Atrial septal defect 2
Atrial septal defect 7 with or without AV conduction defects
Atrial Standstill
Atrioventricular septal defect 4
Barth Syndrome
Bradychardia
Brugada Syndrome
Brugada syndrome 8
Cardiac Arrhythmia
Cardiomyopathy
Cardiomyopathy Infantile type I muscle fibre disease recessive
Carney complex type 1
Catecholaminergic Polymorphic Ventricular Tachycardia – CPVT
Catecholaminergic Polymorphic Ventricular Tachycardia 1 – CPVT1
Catecholaminergic Polymorphic Ventricular Tachycardia 2 – CPVT2
Catecholaminergic Polymorphic Ventricular Tachycardia 4 – CPVT4
Centronuclear myopathies recessive – CNM
Conduction Defects
Congenital heart defects
Core myopathy recessive – CM
Danon disease
Dilated cardiomyopathy with woolly hair and keratoderma – Carvajal syndrome
Dilated cardiomyopathy- DCM
Fabry Disease
Familial Amyloid Polyneuropathy
Hereditary myopathy with early respiratory failure – HMERF
Holt-Oram syndrome
Hypertrophic cardiomyopathy- HCM
Idiopathic Ventricular Fibrillation
Jervell-Lange Nielsen syndrome – JLNS
Jervell-Lange Nielsen syndrome 2 – JLNS2
Limb-Girdle muscular dystrophy
Long QT Syndrome – LQT
Long QT syndrome 1 – LQT1
Long QT syndrome 13 – LQT13
Long QT syndrome 15 – LQT15
Long QT syndrome 2 – LQT2
Long QT syndrome 3 – LQT3
Long QT syndrome 5 – LQT5
Long QT syndrome 6 – LQT6
Long QT syndrome 7 – LQT7 – Andersen Syndrome
Long QT syndrome 8 – LQT8 – Timothy syndrome
Long QT syndrome 9 – LQT9
Muscular dystrophy
Non Compaction Cardiomyopathy
Paroxysmal Ventricular Fibrillation
Progressive familial heart block type IB
Restrictive Cardiomyopathy
Short QT Syndrome
Short QT syndrome 1 – SQT1
Short QT syndrome 2 – SQT2
Short QT syndrome 3
Sick Sinus Syndrome
Sick sinus syndrome 1
Sick sinus syndrome 2
Skin fragility woolly hair syndrome
Sudden cardiac death
Tetralogy of Fallot
Tetrology of Fallot
Ventricular septal defect 1
Ventricular septal defect 3
Wolff-Parkinson-White Syndrome
Lipid metabolism disorders
Abetalipoproteinemia
Cerebrotendinous xanthomatosis
Cholestasis
Chylomicron retention disease
Dysbetalipoproteinemia
Familial Hypercholesterolemia – FH
Hyperalphalipoproteinemia
Hypercholesterolemia due to ligand-defective apo B
Hypertriglyceridemia
Hypoalphalipoproteinemia
Hypobetalipoproteinemia
Lipodystrophy
Lipodystrophy
Vascular Malformations
Capillary Infantile Hemangioma
Capillary malformation arteriovenous malformation – CMAVM
Cerebral cavernous malformations 3
Cerebral cavernous malformations-1
Cerebral cavernous malformations-2
Cowden Syndrome
Glomuvenous malformations
Hypotrichosis-lymphedema-telangiectasia syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Pulmonary hypertension – primary
Pulmonary hypertension – primary – 3
Pulmonary hypertension – primary – 4
Telangiectasia – hereditary hemorrhagic – type 1
Telangiectasia – hereditary hemorrhagic – type 2
Telangiectasia – hereditary hemorrhagic – type 5
Venous malformations
Venous malformations – multiple cutaneous and mucosal
Connective Tissue Disorders
Aortic valve disease 1
Arterial tortuosity syndrome
Bone mineral density QTL18 – osteoporosis
Brittle cornea syndrome
Bruck syndrome
Congenital contractural arachnodactyly
Cutis laxa – autosomal dominant
Cutis laxa – autosomal recessive – type IIB
Cutis laxa autosomal dominant 2
Cutis laxa autosomal recessive – Cutis laxa type IA
Cutis laxa autosomal recessive – Cutis laxa type IB
Cutis laxa autosomal recessive – Cutis laxa type IC
Ectopia lentis
Ehlers-Danlos syndrome – EDS
Ehlers-Danlos syndrome kyphoscoliotic type
Ehlers-Danlos syndrome type I – classic type
Ehlers-Danlos syndrome type II – classic type
Ehlers-Danlos syndrome vascular type
Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss
Geleophysic dysplasia
Homocystinuria
Hypophosphatasia
Kniest dysplasia
Larsen syndrome
Loeys-Dietz syndrome type 1A
Loeys-Dietz syndrome type 1B
Loeys-Dietz syndrome type 2A
Loeys-Dietz syndrome type 2B
Loeys-Dietz syndrome type 3 – aneurysms-osteoarthritis syndrome
Loeys-Dietz syndrome type 4
Lysyl hydroxylase 3 deficiency
Marfan Syndrome
Marshall syndrome
Metaphyseal chondrodysplasia Schmid type
Multiple epiphyseal dysplasia
Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects
Multiple self-healing squamous epithelioma
Osteogenesis imperfecta
Osteogenesis imperfecta type IX
Osteogenesis imperfecta type V
Osteogenesis imperfecta type VIII
Osteogenesis imperfecta type X
Osteogenesis imperfecta type XII
Osteoporosis – early onset
Osteoporosis with fractures
Osteoporosis-pseudoglioma syndrome
Otospondylomegaepiphyseal dysplasia
Porencephaly
Spondylocheirodysplasia
Spondyloepiphyseal dysplasia congenita
Stickler syndrome
Supravalvular aortic stenosis
Thoracic Aortic Aneurysm with Dissection – TAAD
van den Ende-Gupta syndrome
Wagner syndrome
Weill-Marchesani syndrome
Weissenbacher-Zweymuller syndrome
Developmental Disorders
46XX sex reversal 1
46XY sex reversal 3
46XY sex reversal 5
Fetal akinesia
Fetal akinesia deformation sequence
Jackson-Weiss syndrome
Léri-Weill dyschondrosteosis
SHORT STATURE – IDIOPATHIC – X-LINKED – ISS
Endocrine Disorders
Albright hereditary osteodystrophy – AHO
Aldosteronism glucocorticoid remediable – GRA – familial hyperaldosteronism type I
Angelman syndrome – AS
Bamforth Lazarus syndrome
Central hypothyroidism
Chondrodysplasia
Diabetes mellitus permanent neonatal
Fragile X syndrome
Hyperaldosteronism familial type III
Hyperinsulinemic hypoglycemia familial 1
Hyperinsulinemic hypoglycemia familial 2
Hyperinsulinemic hypoglycemia familial 3
Hyperinsulinism
Hyperinsulinism hyperammonemia syndrome
Hyperthyroidism
Hypothryoidism congenital nongoitrous 4
Hypothyroidism
Hypothyroidism central and testicular enlargement
Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia
Hypothyroidism congenital nongoitrous 1
Hypothyroidism congenital nongoitrous 4
McCune Albright syndrome
Microphthalmia syndromic 5
Neonatal diabetes mellitus
Obesity
Obesity – morbid – due to leptin deficiency
Obesity autosomal dominant
Pendred syndrome with organification defect
Pituitary hormone deficiency combined 1
Pituitary hormone deficiency combined 2
Pituitary hormone deficiency combined 3
Pituitary hormone deficiency combined 4
Pituitary hormone deficiency combined 6
Prader Willi syndrome – PWS
Pseudohypoparathyreoïdie type II
Pseudohypoparathyroidism Ia
Pseudohypoparathyroidism Ib
Pseudopseudohypoparathyroidism
Retinal dystrophy early onset and pituitary dysfunction
Septooptic dysplasia
Shwachman-Diamond syndrome – SBDS
Thryoid dyshormonogenesis 5
Thryoid dyshormonogenesis 6
Thyroid adenoma hyperfunctioning somatic
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 2A
Thyroid dyshormonogenesis 3
Thyroid dyshormonogenesis 4
Thyroid Hormone Resistance
Thyroidal hypothyroidism
Thyrotropin releasing hormone deficiency
Thyrotropin releasing hormone resistance generalized
Eye Disorders
Achromatopsia 2 – colorblindness
Achromatopsia 3
Albinism oculocutaneous type IA – OCA1A
Albinism oculocutaneous type II – OCA2
Albinism oculocutaneous type III – OCA3
Albinism oculocutaneous type IV – OCA4
Aniridia
Arterial Calcification Generalized of Infancy – GACI1
Axenfeld Rieger syndrome type 1 – RIEG1
Axenfeld Rieger syndrome type 3 – RIEG3
Basal laminar drusen
Best macular dystrophy
Cataract with late-onset corneal dystrophy
Coloboma ocular
Coloboma of optic nerve
Cone-rod dystrophy 3
Doyne Honeycomb degeneration of retina
Ectopia lentis
Enhanced S cone syndrome
Foveal hyperplasia
Gillespie syndrome
Glaucoma 1 open angle E adult onset
Glaucoma 1A primary open angle juvenile onset 1
Glaucoma 3A primary open angle congenital juvenile or adult onset
Hyperferritinemia-cataract syndrome
Keratitis
Leber congenital amaurosis 10 – LCA 10
Leber congenital amaurosis 2
Leber congenital amaurosis 8
Leber hereditary optic neuropathy – LHON
Macular degeneration juvenile
Macular dystrophy patterned – Butterfly dystrophy of retinal pigment epithelium
Microphthalmia syndromic 3
Morning glory disc anomaly
Night Blindness Congenital Statiionery Type 1E – CSNB1E
Night blindness congenital stationary 1A X linked
Night blindness congenital stationary 1B autosomal recessive
Night blindness congenital stationary 1C autosomal recessive
Night blindness congenital stationary 2A X linked
Night blindness congenital stationary 2B autosomal recessive
Ocular albinism type I – OA1
Optic atrophy 1
Optic atrophy 3 with cataract
Optic nerve hypoplasia
Optic nerve hypoplasia and abnormalities of the central nervous system
Peters anomaly
Pseudoxanthoma elasticum – PXE
PXE-like disorder
Retinitis pigmentosa
Retinitis pigmentosa 12 autosomal recessive
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 3 – Retinitis pigmentosa 15 – Retinitis pigmentosa X linked
Retinitis pigmentosa 37
Retinitis pigmentosa 38 – RP38
Retinitis pigmentosa 4 autosomal dominant or recessive
Retinitis pigmentosa 40 – RP40
Retinitis pigmentosa 43 – RP43
Retinitis pigmentosa 7
Retinoschisis – Retinoschisis X linked
Stargardt disease 1
Stargardt disease 3 – Stargardt like macular dystrophy
Trichorhinophalangeal syndrome type I
Trichorhinophalangeal syndrome type III
TRP syndrome
Vitreoretinochoroidopathy
Hematologic Disorders
Blackfan-Diamond anemia
Diamond-Blackfan anemia 1 – DBA1
Diamond-Blackfan anemia 10 – DBA10
Diamond-Blackfan anemia 3 – DBA3
Diamond-Blackfan anemia 4 – DBA4
Diamond-Blackfan anemia 5 – DBA5
Diamond-Blackfan anemia 6 – DBA6
Diamond-Blackfan anemia 7 – DBA7
Diamond-Blackfan anemia 8 – DBA8
Diamond-Blackfan anemia 9 – DBA9
Fanconi anemia
Fanconi anemia A – FANCA
Fanconi anemia B – FANCB
Fanconi anemia C – FANCC
Fanconi anemia E – FANCE
Fanconi anemia F – FANCF
Fanconi anemia G – FANCG
Fanconi anemia I – FANCI
Fanconi anemia J – FANCJ
Fanconi anemia L – FANCL
Fanconi anemia M – FANCM
Fanconi anemia N – FANCN
Fanconi anemia O – FANCO
Hemophilia A
Methemoglobinemia – Cytochrome b5 reductase deficiency
Neutropenia
Neutropenia cyclic
Neutropenia severe congenital 1 autosomal dominant
Neutropenia severe congenital 2 autosomal dominant
Neutropenia severe congenital 3 autosomal recessive
Neutropenia severe congenital 4 autosomal recessive
Neutropenia severe congenital X-linked
Shwachman-Diamond syndrome – SBDS
Immunologic Disorders
Angioedema hereditary type III
Angioedema hereditary types I and II
Hyper IgE recurrent infection syndrome autosomal recessive
Hyper-IgD syndrome – Hyperimmunoglobulinaemia D and periodic fever
Hyper-IgE recurrent infection syndrome
Properdin deficiency X linked
Vici syndrome
Liver and Bowel Disorders
Cholestasis benign recurrent intrahepatic 1
Cholestasis benign recurrent intrahepatic 2
Cholestasis intrahepatic of pregnancy
Cholestasis intrahepatic of pregnancy 3
Cholestasis progressive familial intrahepatic 1
Cholestasis progressive familial intrahepatic 2
Cholestasis progressive familial intrahepatic 3
Gallbladder disease 1 – LPAC syndrome
Hypercholanemia familial – FHCA
Lymphatic Disorders
Hennekam lymphangiectasia lymphedema syndrome – Hennekam syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome
Lymphedema – hereditary
Lymphedema-distichiasis syndrome
Venous malformations
Malformations
Cornelia de Lange syndrome
Developmental Disorders
Achondroplasia
Apert syndrome
Autism
Blepharophimosi ptosis and epicanthus inversus syndrome – BPES
Carpenter syndrome 1 – CRPT1
CHARGE syndrome
Cornelia de Lange syndrome 1 – CDLS1
Cornelia de Lange syndrome 2 – CDLS2
Cornelia de Lange syndrome 5 – CDLS5
Craniosynostosis 4
Crouzon syndrome
Developmental Delay
DiGeorge syndrome
Epileptic encephalopathy early infantile 2 – Rett syndrome atypical
Fetal akinesia
Galloway-Mowat syndrome
Hypochondrioplasia
Jackson-Weiss syndrome
Langer Mesomelic dysplasia
Microcephaly
Microcephaly 1 primary autosomal recessive
Microcephaly 2 primary autosomal recessive
Microcephaly 5 primary autosomal recessive
Microcephaly 6 primary autosomal recessive
Microcephaly 7 primary autosomal recessive
Muenke syndrome
Pfeiffer syndrome
Rett syndrome
Rett syndrome congenital variant
Saethre-Chotzen syndrome – SCS
Supravalvular aortic stenosis
Tay Sachs disease
Thanatophoric Dysplasia
UPD14 Syndrome
van der Woude Syndrome1-VWS1
Williams-Beuren syndrome WBS
Dysmorphology Disorders
Angelman syndrome – AS
Cherubism
Dysmorphic Features
Fragile X syndrome
Nicolaides Baraitser syndrome
Prader Willi syndrome – PWS
Roberts syndrome
Stuve-Wiedemann syndrome
Genital anomalies
Denys Drash Syndrome – DDS
Frasier syndrome
Growth Disorders
Growth Abnormalities
Hemihypertrophy – Hemihyperplasia
Mulchandani Bhoj Conlin Syndrome; MBCS
Segmental Overgrowth Disorder
Simpson Golabi Behmel syndrome type 1
Skeletal Disorders
Desbuquois dysplasia 2
Greenberg skeletal dysplasia – HEM skeletal dysplasia
Metabolic Disorders
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
3-hydroxyisobutyrate dehydrogenase deficiency
3-hydroxyisobutyryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency – MCC1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency – MCC2 deficiency
3-methylglutaconyl-CoA hydratase deficiency – 3-methylglutacon aciduria type 1
Acute recurrent rhabdomyolysis – Myoglobinuria acute recurrent
Acyl-CoA oxidase deficiency
Adenine phosphoribosyltransferase deficiency
Adenosine deaminase deficiency
Adrenoleukodystrophy X-linked
Alpha-methylacyl-CoA racemase deficiency
Argininosuccinate lyase deficiency
Aromatic-L-amino-acid decarboxylase deficiency
Beta-ureidopropionase deficiency
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2 – Riboflavine transporter defect
Carnitine palmitoyltransferase 2 deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine-acylcarnitine translocase deficiency
CHILD syndrome
Chitotriosidase deficiency
Chondrodysplasia punctata 2 – CDPX2 – Conradi-Hunermann-Happle syndrome
CK syndrome
D-bifunctional protein deficiency – DBPD
Desmosterolosis
Dihydropyrimidinase Deficiency
Dihydropyrimidine dehydrogenase deficiency
Dopa responsive dystonia
Ethylmalonic encephalopathy
Galactokinase deficiency
Galactosemia
Glutaric acidemia type IIA
Glutaric acidemia type IIB
Glutaric acidemia type IIC
Glutaric aciduria type 1 – Glutaric acidemia type 1 – Glutaryl-CoA dehydrogenase deficiency
Glycogen storage disease type 0 – GSD 0
Glycogen storage disease X – Phosphoglycerate mutase deficiency muscle specific
Hereditary fructose intolerance
Holocarboxylase synthetase deficiency
HPRT-related gout – Hypoxanthine-guanine phosphoribosyl transferase deficiency
Hyperlysinemia
Hypothyroidism
Isovaleric acidemia – Isovaleryl-CoA dehydrogenase deficiency
Lathosterolosis
Lesch-Nyhan syndrome
Lipid metabolism disorders
Cerebrotendinous xanthomatosis
Cholestasis
Chylomicron retention disease
Hyperalphalipoproteinemia
Hypertriglyceridemia
Hypoalphalipoproteinemia
Hypobetalipoproteinemia
Lipodystrophy
Lysosomal storage disorders
Danon disease
Fabry Disease
Gaucher disease
Niemann Pick disease type A
Niemann Pick disease type B
Niemann Pick disease type C1
Niemann Pick disease type C2
Malignant hyperphenylalaninemia – GTP cyclohydrolase I deficiency
Medium-chain acyl-Coenzyme A dehydrogenase deficiency
Methylmalonyl-CoA epimerase deficiency – Methylmalonic aciduria III
Mevalonate kinase deficiency
Mevalonic aciduria
Mitochondrial DNA depletion syndrome 9 – SUCLG1 deficiency
Mitochondrial trifunctional protein deficiency
Monocarboxylate transporter member 1 (MCT1) deficiency
Multiple acyl-CoA dehydrogenase deficiency
Niemann Pick disease type A
Niemann Pick disease type B
Niemann Pick disease type C1
Niemann Pick disease type C2
Peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 12A
Peroxisome biogenesis disorder 13A
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1A
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4A
Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 8A
Peroxisome biogenesis disorder 9B – Refsum disease
Phosphoribosyl pyrophosphate synthetase 1 superactivity
Phytanoyl-CoA 2-hydroxylase deficiency – Refsum disease
Primary carnitine deficiency
Primary hyperoxaluria type 1
Primary hyperoxaluria type II
Primary hyperoxaluria type III
Purine nucleoside phosphorylase deficiency
Rhizomelic chondrodysplasia punctata type 1 – RCDP1
Rhizomelic chondrodysplasia punctata type 2 – RCDP2
Rhizomelic chondrodysplasia punctata type 3 – RCDP3
Riboflavin deficiency
Short Chain Acyl-CoA Dehydrogenase Deficiency
Sjogren-Larsson syndrome
Smith-Lemli-Opitz syndrome – SLOS
SUCLA2 deficiency – Myopathic mitochondrial DNA depletion syndrome
Thymidine phosphorylase deficiency – Mitochondrial neurogastrointestinal encephalomyopathy
Tyrosine hydroxylase deficiency – Segawa syndrome
Very-long-chain acyl-Coenzyme A dehydrogenase deficiency – VLCAD deficiency
Zellweger spectrum disorders
Zellweger syndrome
Muscle Disorders
Cardiomyopathy
Centronuclear myopathies recessive – CNM
Core myopathy recessive – CM
Degenerative myopathies
Emery Dreifuss muscular dystrophy
Limb-Girdle muscular dystrophy
Dilated cardiomyopathy- DCM
Emery Dreifuss muscular dystrophy
Hereditary myopathy with early respiratory failure – HMERF
Hypertrophic cardiomyopathy- HCM
Limb-Girdle muscular dystrophy
Muscular dystrophy
Non Compaction Cardiomyopathy
Restrictive Cardiomyopathy
Nephropathies
Denys Drash Syndrome – DDS
Frasier syndrome
Wilms tumor
Neurological Disorders
Aicardi-Goutières syndrome 1
Aicardi-Goutières syndrome 2
Aicardi-Goutières syndrome 3
Aicardi-Goutières syndrome 4
Aicardi-Goutières syndrome 5
Aicardi-Goutières syndrome 6
Alzheimer Disease
Amyloidosis hereditary transthyretin-related
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 1
Amyotrophic lateral sclerosis 10 – ALS10
Amyotrophic lateral sclerosis 10 – with or without FTD
Amyotrophic lateral sclerosis 14 – ALS14
Amyotrophic lateral sclerosis 4 juvenile – ALS4
Amyotrophic lateral sclerosis 6 – ALS6
Amyotrophic lateral sclerosis type 9 – ALS9
Amyotrophy hereditary neuralgic
Angelman syndrome – AS
Ataxia-ocular apraxia 2-Spinocerebellar ataxia autosomal recessive 1- SCAR1
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2 – Riboflavine transporter defect
Cerebellar ataxia, deafness and narcolepsy a.d. ADCADN syndrome – DNMT1
Charcot Marie Tooth – CMT
Charcot-Marie-Tooth disease – CMT NGS panel
Charcot-Marie-Tooth disease axonal type 2F – CMT2F
Charcot-Marie-Tooth disease axonal type 2K – CMT2K
Charcot-Marie-Tooth disease axonal type 2L – CMT2L
Charcot-Marie-Tooth disease axonal type 2M – CMT2M
Charcot-Marie-Tooth disease axonal type 2P – CMT2P
Charcot-Marie-Tooth disease type 1A – CMT1A
Charcot-Marie-Tooth disease type 1B – CMT1B
Charcot-Marie-Tooth disease type 1C – CMT1C
Charcot-Marie-Tooth disease type 1D – CMT1D
Charcot-Marie-Tooth disease type 1F – CMT1F
Charcot-Marie-Tooth disease type 2A2 – CMT2A2
Charcot-Marie-Tooth disease type 2B – CMT2B
Charcot-Marie-Tooth disease type 2B1 – CMT2B1
Charcot-Marie-Tooth disease type 2D – CMT2D
Charcot-Marie-Tooth disease type 2E – CMT2E
Charcot-Marie-Tooth disease type 2I – CMT2I
Charcot-Marie-Tooth disease type 2IJ – CMT2J
Charcot-Marie-Tooth disease Type 4A – CMT4A
Charcot-Marie-Tooth disease type 4B1 – CMT4B1
Charcot-Marie-Tooth disease type 4C – CMT4C
Charcot-Marie-Tooth disease type 4D – CMT4D
Charcot-Marie-Tooth disease type 4H – CMT4H
Charcot-Marie-Tooth disease type 4J – CMT4J
Charcot-Marie-Tooth disease X-linked dominant type 1 – CMT1C
Choreoathetosis hypothyroidism and neonatal respiratory distress
CNS Abnormalities
Congenital cataracts facial dysmorphism and neuropathy – CCFDN
Creutzfeldt Jakob disease
Cystic leukoencephalopathy without megalencephaly
Dementia – Lewy body
Distal hereditary motor neuropathy type 5 – DHMN
Dystonia 1 torsion – DYT1
Dystonia 11 myoclonic – DYT11
Dystonia 6 torsion – DYT6
Epileptic encephalopathy – early infantile – 11
Epileptic encephalopathy – early infantile – 25
Epileptic encephalopathy early infantile 2 – Rett syndrome atypical
Familial Amyloid Polyneuropathy
Fragile X syndrome
Fragile X tremor/ataxia syndrome
Frontotemporal Dementia – FTD
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 – FTDALS1
Frontotemporal lobar degeneration with ubiquitin-positive inclusions
Goiter familial due to TTF1 defect
Hereditary benign chorea
Hereditary motor and sensory neuropathy type IIc – HMSN2C
Hypomyelination with Spondylometaphyseal Dysplasia
Intellectual developmental disorder with dysmorphic facies and ptosis
Intellectual Disability
Achondroplasia
Alpha-thalassemia mental retardation (ATRX) syndrome
Angelman syndrome – AS
Apert syndrome
Autism
Autism, susceptibility to, 18
Blepharophimosi ptosis and epicanthus inversus syndrome – BPES
Blepharophimosis SMARCA2 Synd
Carpenter syndrome 1 – CRPT1
Coffin Siris syndrome CSS (1-4, 8)
Cornelia de Lange syndrome
Cornelia de Lange syndrome 1 – CDLS1
Cornelia de Lange syndrome 2 – CDLS2
Cornelia de Lange syndrome 5 – CDLS5
Craniosynostosis 4
Crouzon syndrome
DiGeorge syndrome
Down syndrome
Fragile X syndrome
Fragile X tremor/ataxia syndrome
Hypochondrioplasia
Jackson-Weiss syndrome
Langer Mesomelic dysplasia
Mental Retardation
Börjeson-Forssman-Lehmann Syndrome
Muenke syndrome
Nicolaides Baraitser syndrome
Nicolaides-Baraitser (NCBRS) syndrome
Pfeiffer syndrome
Prader Willi syndrome – PWS
Saethre-Chotzen syndrome – SCS
Supravalvular aortic stenosis
Thanatophoric Dysplasia
van der Woude Syndrome1-VWS1
Williams-Beuren syndrome WBS
L-Ferritin deficiency
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Microcephaly
Microcephaly 1 primary autosomal recessive
Microcephaly 5 primary autosomal recessive
Microcephaly 6 primary autosomal recessive
Microcephaly 7 primary autosomal recessive
Myotubular myopathy X-linked
Neurodegeneration with brain iron accululation 5
Neurodegeneration with brain iron accumulation 1
neurodegeneration with brain iron accumulation 2A
Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 3
Neurodegeneration with brain iron accumulation 4
Neurodegeneration with brain iron accumulation 6
Neuropathy distal hereditary motor type IIA
Neuropathy distal hereditary motor type IIB
Neuropathy hereditary sensory and autonomic type IA – HSAN1A
Neuropathy hereditary sensory and autonomic type II – HSAN IIA
Neuropathy hereditary sensory and autonomic type V – HSAN V
Neuropathy recurrent with pressure palsies – HNPP
Parkinson Disease 1 Autosomal Dominant
Parkinson Disease 2 Autosomal Recessive
Parkinson Disease 4 Autosomal Dominant
Parkinson Disease 6 Autosomal Recessive
Parkinson Disease 7 Autosomal Recessive
Parkinson Disease 8 Autosomal Dominant
Peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 12A
Peroxisome biogenesis disorder 13A
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1A
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4A
Peroxisome biogenesis disorder 5A
Peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 8A
Pick disease
Pontocerebellar hypoplasia – PCH
Pontocerebellar hypoplasia type 1A – PCH1A
Pontocerebellar hypoplasia type 1B – PCH1B
Pontocerebellar hypoplasia type 2A – PCH2A
Pontocerebellar hypoplasia type 2B – PCH2B
Pontocerebellar hypoplasia type 2C – PCH2C
Pontocerebellar hypoplasia type 2D – PCH2D
Pontocerebellar hypoplasia type 4 – PCH4
Pontocerebellar hypoplasia type 6
Prader Willi syndrome – PWS
Rett syndrome
Rett syndrome congenital variant
Riboflavin deficiency
Scapuloperoneal spinal muscular atrophy
Spinal muscular atrophy
Tay Sachs disease
Treatable Metabolic Neurodegenerative Disorders
White Matter Disorders
Aicardi-Goutières syndrome 1
Aicardi-Goutières syndrome 2
Aicardi-Goutières syndrome 3
Aicardi-Goutières syndrome 4
Aicardi-Goutières syndrome 5
Aicardi-Goutières syndrome 6
Aicardi-Goutières syndrome 7
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
Cystic leukoencephalopathy without megalencephaly
Hereditary diffuse leukoencephalopathy with spheroids
Hypomyelinating Leukodystrophy type 11 – 4H syndrome
Hypomyelinating Leukodystrophy type 16
Hypomyelinating Leukodystrophy type 2
Hypomyelinating Leukodystrophy type 3
Hypomyelinating Leukodystrophy type 4
Hypomyelinating Leukodystrophy type 5
Hypomyelinating Leukodystrophy type 6
Hypomyelinating Leukodystrophy type 7 – 4H syndrome
Hypomyelinating Leukodystrophy type 8
Leukodystrophy – adult-onset – autosomal dominant
Leukodystrophy – hypomyelinating – 14
Leukoencephalopathy – diffuse hereditary – with spheroids
Leukoencephalopathy with ataxia
Pelizaeus-Merzbacher disease
Spastic Paraplegia type 2 X linked
Spastic Paraplegia type 35
Zellweger spectrum disorders
Zellweger syndrome
Pulmonary Disease
Ciliary dyskinesia – primary – 1 – with or without situs inversus
Ciliary dyskinesia – primary – 2
Ciliary dyskinesia – primary – 3 – with or without situs inversus
Ciliary dyskinesia – primary – 5
Ciliary dyskinesia – primary – 7 – with or without situs inversus
Ciliary dyskinesia – primary – 9 – with or without situs inversus
Cystic Fibrosis
Pulmonary hypertension – PPH1
Pulmonary hypertension – PPH2
Surfactant protein B deficiency – pulmonary surfactant metabolism dysfunction
Reproductive Genetics & Infertility
Infertility
Azoospermia
Congenital bilateral absence of vas deferens CBAVD
Cystic Fibrosis
Oligospermia
Oligozoospermia
Reproductive Genetics
Azoospermia
Cystic Fibrosis
Oligospermia
Oligozoospermia
Premature ovarian failure 1 – POF
Skin Disorders
Basal Cell Nevus Syndrome – BCNS – Gorlin syndrome
Birt-Hogg-Dubé (BHD) syndrome
Goltz-Gorlin Syndrome – Focal Dermal Hypoplasia – FDH
Hypotrichosis-lymphedema-telangiectasia syndrome
Urological Disorders
Oligospermia
Oligozoospermia
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