| Genes | PDSS1 |
|---|---|
| Lab method | Mutation Specific testing |
| Turnaround time | 3 weeks |
| Location | Location AMC |
| Price | € 345,00 |
PDSS1 – Mutation-specific testing
Test code: D00072Disorder(s)
- Treatable Metabolic Neurodegenerative Disorders
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
- Tetralogy of Fallot
- Tetrology of Fallot
- Ventricular septal defect 1
- Ventricular septal defect 3
- Wolff-Parkinson-White Syndrome
- Lipid metabolism disorders
- 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
- Cardiac Disorders
- 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
- 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 25 – RP25
- Retinitis pigmentosa 3 – Retinitis pigmentosa 15 – Retinitis pigmentosa X linked
- Retinitis pigmentosa 37
- Retinitis pigmentosa 38 – RP38
- Retinitis pigmentosa 39 – RP39
- 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 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
- 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
- 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
- Genital anomalies
- Growth Disorders
- Skeletal Disorders
- 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
- Lipodystrophy
- Lysosomal storage disorders
- 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
- 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
- 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
- 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
- Skin Disorders
- Urological Disorders
