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CGC Genetics (Unilabs)

General information

CGC Genetics
Unilabs
Rua Manuel Pinto de Azevedo, 173
Porto
Porto
Portugal - 4100-321
https://www.unilabs.pt/en/services/specialties/medical-genetics/about
Organization ID: 202248

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 11

Gene

GeneSubmissionsLast Updated
CCDST1Jan 8, 2025
COL4A51Nov 19, 2024
DMD1Dec 3, 2024
DNAJB111Oct 23, 2024
FLG1Jan 8, 2025
GPSM21Oct 17, 2024
HNF4A1Nov 19, 2024
NF12Oct 30, 2024
NSD21May 14, 2024
OPA11Dec 12, 2024
TSC21Oct 31, 2024

Condition

NameSubmissionsLast Updated
Autosomal dominant optic atrophy classic form1Dec 12, 2024
Chudley-McCullough syndrome1Oct 17, 2024
Duchenne muscular dystrophy1Dec 3, 2024
Ichthyosis vulgaris1Jan 8, 2025
Maturity-onset diabetes of the young type 11Nov 19, 2024
Neurofibromatosis, type 12Oct 30, 2024
Polycystic kidney disease 6 with or without polycystic liver disease1Oct 23, 2024
Syndromic intellectual disability1May 14, 2024
Tuberous sclerosis 21Oct 31, 2024
X-linked Alport syndrome1Nov 19, 2024

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 31 test
3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
46 XX gonadal dysgenesis1 test
46,XY sex reversal 11 test
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
ADULT syndrome1 test
ALG11-congenital disorder of glycosylation1 test
Abducens nerve palsy1 test
Achromatopsia 41 test
Achromatopsia 61 test
Acne inversa1 test
Acral peeling skin syndrome1 test
Acroerythrokeratoderma1 test
Acute febrile mucocutaneous lymph node syndrome1 test
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
Acute lymphoid leukemia11 tests
Acute myeloid leukemia21 tests
Acute promyelocytic leukemia6 tests
Adams-Oliver syndrome1 test
Adams-Oliver syndrome 51 test
Aganglionic megacolon3 tests
Aicardi syndrome1 test
Alpha-fetoprotein deficiency1 test
Alveolar capillary dysplasia with pulmonary venous misalignment1 test
Amelocerebrohypohidrotic syndrome1 test
Amelogenesis imperfecta, hypocalcification type1 test
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis type 101 test
Amyotrophic lateral sclerosis type 151 test
Amyotrophic lateral sclerosis type 161 test
Amyotrophic lateral sclerosis type 181 test
Amyotrophic lateral sclerosis type 81 test
Amyotrophic lateral sclerosis type 91 test
Amyotrophic lateral sclerosis, susceptibility to1 test
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome1 test
Anterior segment dysgenesis2 tests
Aortic aneurysm, familial thoracic 81 test
Aortic valve disease 21 test
Aortic valve disorder1 test
Arginine:glycine amidinotransferase deficiency1 test
Arrhythmogenic right ventricular dysplasia 11 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 131 test
Arthrogryposis1 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Asperger syndrome, X-linked, susceptibility to, 11 test
Asperger syndrome, X-linked, susceptibility to, 21 test
Athetosis1 test
Atrial fibrillation, familial, 111 test
Atrial fibrillation, familial, 61 test
Atrial fibrillation, familial, 71 test
Atrial septal defect 21 test
Atrial septal defect 71 test
Atrial septal defect 91 test
Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
Attention deficit hyperactivity disorder1 test
Atypical chronic myeloid leukemia, BCR-ABL1 negative1 test
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with anti-factor H antibodies1 test
Auriculocondylar syndrome 11 test
Auriculocondylar syndrome 21 test
Auriculocondylar syndrome 31 test
Autism spectrum disorder7 tests
Autism spectrum disorder - epilepsy - arthrogryposis syndrome1 test
Autoimmune lymphoproliferative syndrome1 test
Autosomal chromosomal disorder1 test
Autosomal dominant Kenny-Caffey syndrome1 test
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
Autosomal dominant nonsyndromic hearing loss 151 test
Autosomal dominant nonsyndromic hearing loss 201 test
Autosomal dominant nonsyndromic hearing loss 231 test
Autosomal dominant nonsyndromic hearing loss 251 test
Autosomal dominant nonsyndromic hearing loss 401 test
Autosomal dominant nonsyndromic hearing loss 411 test
Autosomal dominant nonsyndromic hearing loss 441 test
Autosomal dominant nonsyndromic hearing loss 51 test
Autosomal dominant nonsyndromic hearing loss 501 test
Autosomal dominant nonsyndromic hearing loss 641 test
Autosomal dominant nonsyndromic hearing loss 91 test
Autosomal dominant polycystic liver disease1 test
Autosomal recessive nonsyndromic hearing loss 151 test
Autosomal recessive nonsyndromic hearing loss 241 test
Autosomal recessive nonsyndromic hearing loss 251 test
Autosomal recessive nonsyndromic hearing loss 291 test
Autosomal recessive nonsyndromic hearing loss 351 test
Autosomal recessive nonsyndromic hearing loss 421 test
Autosomal recessive nonsyndromic hearing loss 481 test
Autosomal recessive nonsyndromic hearing loss 491 test
Autosomal recessive nonsyndromic hearing loss 591 test
Autosomal recessive nonsyndromic hearing loss 61 test
Autosomal recessive nonsyndromic hearing loss 631 test
Autosomal recessive nonsyndromic hearing loss 671 test
Autosomal recessive nonsyndromic hearing loss 741 test
Autosomal recessive nonsyndromic hearing loss 761 test
Autosomal recessive nonsyndromic hearing loss 791 test
Autosomal recessive nonsyndromic hearing loss 81 test
Autosomal recessive nonsyndromic hearing loss 911 test
Autosomal recessive osteopetrosis 81 test
Avascular necrosis of the head of femur1 test
Azorean disease1 test
B-cell chronic lymphocytic leukemia11 tests
Baraitser-Winter syndrome1 test
Baraitser-Winter syndrome 11 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 171 test
Basal ganglia calcification, idiopathic, 51 test
Becker muscular dystrophy1 test
Behcet disease1 test
Bothnia retinal dystrophy1 test
Brachydactyly type A11 test
Brachyrachia (short spine dysplasia)1 test
Branchiootorenal syndrome 21 test
Breast cancer, susceptibility to1 test
Breast-ovarian cancer, familial, susceptibility to, 41 test
Brown-Vialetto-van Laere syndrome 11 test
Bruck syndrome1 test
Brugada syndrome 61 test
Brugada syndrome 71 test
Brugada syndrome 81 test
Burkitt lymphoma2 tests
CHIME syndrome1 test
CK syndrome1 test
Candidiasis, familial, 81 test
Capillary malformation1 test
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
Carney-Stratakis syndrome1 test
Cataract 1 multiple types1 test
Cataract 17 multiple types1 test
Cataract 231 test
Cataract 331 test
Cataract 401 test
Cataract 5 multiple types1 test
Cataract 9 multiple types1 test
Catecholaminergic polymorphic ventricular tachycardia 41 test
Caudal regression sequence1 test
Cellular mosaicism1 test
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome1 test
Cerebral creatine deficiency syndrome1 test
Cerebro-costo-mandibular syndrome1 test
Cerebro-facio-thoracic dysplasia1 test
Cerebrooculofacioskeletal syndrome 41 test
Char syndrome1 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease dominant intermediate C1 test
Charcot-Marie-Tooth disease dominant intermediate F1 test
Charcot-Marie-Tooth disease type 4J1 test
Cholangiocarcinoma1 test
Chondrodysplasia with joint dislocations, gPAPP type1 test
Chromosome 1p36 deletion syndrome1 test
Chromosome 2q37 deletion syndrome1 test
Chromosome Xp11.22 duplication syndrome1 test
Chronic myelogenous leukemia, BCR-ABL1 positive5 tests
Chronic neutrophilic leukemia1 test
Chronic pancreatitis1 test
Clubfoot1 test
Cole-Carpenter syndrome 11 test
Colorectal cancer1 test
Combined immunodeficiency due to CD3gamma deficiency1 test
Complete trisomy 131 test
Complete trisomy 13 syndrome3 tests
Complete trisomy 184 tests
Complete trisomy 211 test
Complex cortical dysplasia with other brain malformations 41 test
Complex cortical dysplasia with other brain malformations 51 test
Cone dystrophy with supernormal rod response1 test
Cone-rod dystrophy 111 test
Cone-rod dystrophy 141 test
Congenital absence of salivary gland1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital anomalies of kidney and urinary tract 21 test
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital central hypoventilation1 test
Congenital chromosomal disease10 tests
Congenital defect of folate absorption1 test
Congenital dyserythropoietic anemia type type 1B1 test
Congenital fibrosis of extraocular muscles1 test
Congenital fibrosis of extraocular muscles type 11 test
Congenital generalized lipodystrophy type 41 test
Congenital heart defects, multiple types, 21 test
Congenital heart defects, multiple types, 61 test
Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
Congenital muscular dystrophy1 test
Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
Congenital myasthenic syndrome1 test
Congenital myopathy 231 test
Congenital myopathy 4A, autosomal dominant1 test
Congenital nongoitrous hypothyroidism 61 test
Congenital nonprogressive myopathy with Moebius and Robin sequences1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital vertical talus1 test
Cornea plana 21 test
Cornelia de Lange syndrome 51 test
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome1 test
Costello syndrome1 test
Craniofacial dysplasia - osteopenia syndrome1 test
Craniosynostosis 21 test
Craniosynostosis 41 test
Creatine transporter deficiency1 test
Cryptorchidism1 test
Curry-Hall syndrome2 tests
Cutaneous porphyria1 test
Cutis laxa, autosomal recessive, type 1A1 test
Cystic fibrosis1 test
Cystic leukoencephalopathy without megalencephaly1 test
DNA ligase IV deficiency1 test
DOORS syndrome1 test
Deafness, mitochondrial, modifier of1 test
Deficiency of 3-hydroxyisobutyryl CoA hydrolase1 test
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hyaluronoglucosaminidase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Delta-beta-thalassemia1 test
Dentatorubral-pallidoluysian atrophy1 test
Dermatofibrosarcoma protuberans1 test
Desbuquois syndrome2 tests
Desmin-related myofibrillar myopathy1 test
Desmoplastic/nodular medulloblastoma1 test
Desmosterolosis1 test
Developmental and epileptic encephalopathy, 31 test
Developmental and epileptic encephalopathy, 81 test
Developmental malformations-deafness-dystonia syndrome1 test
DiGeorge syndrome2 tests
Diamond-Blackfan anemia1 test
Diamond-Blackfan anemia 101 test
Diamond-Blackfan anemia 81 test
Diaphyseal dysplasia1 test
Diaphyseal medullary stenosis-bone malignancy syndrome1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1L1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1Y1 test
Dilated cardiomyopathy 1Z1 test
Dilated cardiomyopathy 2B1 test
Dilated cardiomyopathy 3B1 test
Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
Double Y syndrome2 tests
Down syndrome4 tests
Doyne honeycomb retinal dystrophy1 test
Duane retraction syndrome1 test
Duane retraction syndrome 21 test
Duchenne muscular dystrophy1 test
Dysmorphic features7 tests
Dyssynergia1 test
EGFR-related lung cancer1 test
Early infantile epileptic encephalopathy with suppression bursts1 test
Early onset severe obesity1 test
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1 test
Ehlers-Danlos syndrome1 test
Ehlers-Danlos syndrome progeroid type1 test
Ehlers-Danlos syndrome, musculocontractural type 21 test
Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
Epidermodysplasia verruciformis2 tests
Epilepsy1 test
Epilepsy, childhood absence, susceptibility to, 51 test
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 101 test
Episodic ataxia type 61 test
Erythrocytosis, familial, 31 test
Essential pentosuria1 test
Ewing sarcoma1 test
Exercise intolerance, riboflavin-responsive1 test
Exudative vitreoretinopathy 51 test
Factor XIII deficiency1 test
Familial adenomatous polyposis 11 test
Familial benign flecked retina1 test
Familial digital arthropathy-brachydactyly1 test
Familial dysfibrinogenemia2 tests
Familial ectopia lentis1 test
Familial episodic pain syndrome with predominantly upper body involvement1 test
Familial hemophagocytic lymphohistiocytosis 51 test
Familial hyperaldosteronism type III1 test
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome1 test
Familial infantile myoclonic epilepsy1 test
Familial meningioma1 test
Familial pulmonary capillary hemangiomatosis1 test
Familial temporal lobe epilepsy 51 test
Fatal familial insomnia1 test
Feingold syndrome type 21 test
Fibrosis of extraocular muscles, congenital, 21 test
Fibrous dysplasia of jaw1 test
Follicular lymphoma, susceptibility to, 11 test
Fragile X syndrome2 tests
Fragile X-associated tremor/ataxia syndrome2 tests
Frank-Ter Haar syndrome1 test
Friedreich ataxia1 test
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
Frontorhiny1 test
Frontotemporal dementia4 tests
Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
Frontotemporal dementia with motor neuron disease1 test
GM3 synthase deficiency1 test
GTP cyclohydrolase I deficiency with hyperphenylalaninemia1 test
Galloway-Mowat syndrome1 test
Gamma-aminobutyric acid transaminase deficiency1 test
Gamma-glutamylcysteine synthetase deficiency1 test
Gastroesophageal reflux disease1 test
Gastrointestinal stromal tumor2 tests
Generalized epilepsy with febrile seizures plus, type 91 test
Genetic predisposition4 tests
Gerstmann-Straussler-Scheinker syndrome1 test
Glioblastoma1 test
Glioma1 test
Global developmental delay7 tests
Globozoospermia1 test
Gluthathione peroxidase deficiency1 test
Glycine encephalopathy1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
Goldberg-Shprintzen syndrome1 test
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
Hearing loss, X-linked 41 test
Hemolytic anemia due to adenylate kinase deficiency1 test
Hemolytic anemia due to glucophosphate isomerase deficiency1 test
Hemolytic anemia due to glutathione reductase deficiency1 test
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
Hemolytic uremic syndrome, atypical, susceptibility to1 test
Hereditary Chorea1 test
Hereditary disease3151 tests
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary intrinsic factor deficiency1 test
Hereditary nonpolyposis colon cancer1 test
Hereditary pancreatitis2 tests
Hereditary pulmonary alveolar proteinosis1 test
Hereditary spastic paraplegia1 test
Hereditary spastic paraplegia 261 test
Hereditary spastic paraplegia 441 test
Hereditary spastic paraplegia 471 test
Hereditary spastic paraplegia 501 test
Hereditary spastic paraplegia 511 test
Hereditary spastic paraplegia 561 test
Heterotaxy, visceral, 2, autosomal1 test
Heterotaxy, visceral, 4, autosomal1 test
Heyn-Sproul-Jackson syndrome1 test
Histidinemia1 test
Histiocytic medullary reticulosis1 test
Histiocytoid cardiomyopathy1 test
Holoprosencephaly 41 test
Human HOXA1 syndromes1 test
Huntington disease1 test
Huntington disease-like 11 test
Huntington disease-like 21 test
Hydatidiform mole, recurrent, 21 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 31 test
Hyperammonemia, type III1 test
Hypercholanemia, familial1 test
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1 test
Hyperekplexia 21 test
Hypereosinophilic syndrome, idiopathic, resistant to imatinib1 test
Hyperlipoproteinemia type IV2 tests
Hyperphosphatasemia tarda1 test
Hyperphosphatasemia with bone disease1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperplastic polyposis syndrome1 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertrophic cardiomyopathy 101 test
Hypertrophic cardiomyopathy 161 test
Hypertrophic cardiomyopathy 171 test
Hypertrophic cardiomyopathy 31 test
Hypertrophic cardiomyopathy 81 test
Hypogonadotropic hypogonadism1 test
Hypogonadotropic hypogonadism 11 with or without anosmia1 test
Hypogonadotropic hypogonadism 13 with or without anosmia1 test
Hypogonadotropic hypogonadism 16 with or without anosmia1 test
Hypogonadotropic hypogonadism 24 without anosmia1 test
Hypogonadotropic hypogonadism 3 with or without anosmia1 test
Hypogonadotropic hypogonadism 4 with or without anosmia1 test
Hypogonadotropic hypogonadism 6 with or without anosmia1 test
Hypogonadotropic hypogonadism 8 with or without anosmia1 test
Hypomyelinating leukodystrophy 31 test
Hypophosphatemic rickets1 test
Hypospadias 2, X-linked1 test
Hypothalamic hypothyroidism1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
Hypotrichosis 131 test
Hypotrichosis 31 test
IL21-related infantile inflammatory bowel disease1 test
Ichthyosis prematurity syndrome1 test
Idiopathic hypereosinophilic syndrome1 test
Immunodeficiency 27A1 test
Immunodeficiency 281 test
Immunodeficiency due to CD25 deficiency1 test
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 41 test
Immunodeficiency, developmental delay, and hypohomocysteinemia1 test
Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
Inherited congenital spastic tetraplegia1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Intellectual disability8 tests
Intellectual disability, X-linked 141 test
Intellectual disability, X-linked 211 test
Intellectual disability, X-linked 411 test
Intellectual disability, X-linked 451 test
Intellectual disability, X-linked 581 test
Intellectual disability, X-linked 721 test
Intellectual disability, X-linked 881 test
Intellectual disability, X-linked 891 test
Intellectual disability, X-linked 91 test
Intellectual disability, X-linked 911 test
Intellectual disability, X-linked 921 test
Intellectual disability, X-linked 951 test
Intellectual disability, X-linked 961 test
Intellectual disability, X-linked 971 test
Intellectual disability, X-linked, with or without seizures, arx-related1 test
Intellectual disability, autosomal dominant 81 test
Intellectual disability, autosomal recessive 71 test
Intellectual disability-strabismus syndrome1 test
Isolated microphthalmia 21 test
Isolated microphthalmia 31 test
Isolated microphthalmia 81 test
Isolated sedoheptulokinase deficiency1 test
Isolated thyroid-stimulating hormone deficiency1 test
Jalili syndrome1 test
Joubert syndrome 141 test
Joubert syndrome 151 test
Joubert syndrome 161 test
Joubert syndrome 21 test
Joubert syndrome 201 test
Joubert syndrome 81 test
Kennedy disease1 test
Keutel syndrome1 test
Kleefstra syndrome1 test
Klinefelter syndrome2 tests
Koolen-de Vries syndrome1 test
LCAT deficiency1 test
Leber congenital amaurosis 121 test
Leber congenital amaurosis 161 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis 51 test
Leber congenital amaurosis 91 test
Leber optic atrophy9 tests
Left-right axis malformations1 test
Leigh syndrome14 tests
Lennox-Gastaut syndrome1 test
Leri-Weill dyschondrosteosis1 test
Lethal multiple pterygium syndrome1 test
Leukemia1 test
Leukocyte adhesion deficiency1 test
Levy-Hollister syndrome1 test
Limb-girdle muscular dystrophy1 test
Linear skin defects with multiple congenital anomalies 11 test
Loeys-Dietz syndrome 41 test
Long QT syndrome 101 test
Long QT syndrome 131 test
Lung adenocarcinoma1 test
Lung cancer1 test
Lymphatic malformation 31 test
Lymphoid leukemia5 tests
Lymphoproliferative syndrome 21 test
Lynch syndrome1 test
Lysinuric protein intolerance1 test
MELAS syndrome2 tests
MERRF/MELAS overlap syndrome2 tests
Maleylacetoacetate isomerase deficiency1 test
Malformation of cortical development1 test
Malignant lymphoma, large B-cell, diffuse1 test
Malignant melanoma of skin1 test
Malignant tumor of testis1 test
Mandibuloacral dysplasia with type B lipodystrophy1 test
Maple syrup urine disease1 test
Mast cell leukemia1 test
Mastocytosis1 test
Maturity-onset diabetes of the young type 41 test
Meckel syndrome 131 test
Medulloblastoma1 test
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Meier-Gorlin syndrome 41 test
Melanoma, cutaneous malignant, susceptibility to, 21 test
Mesoaxial synostotic syndactyly with phalangeal reduction1 test
Metabolic disease1 test
Metaphyseal dysplasia without hypotrichosis1 test
Metatropic dysplasia1 test
Microcephaly, epilepsy, and diabetes syndrome1 test
Microcephaly-capillary malformation syndrome1 test
Microcornea-myopic chorioretinal atrophy1 test
Microphthalmia1 test
Microphthalmia with brain and digit anomalies1 test
Microphthalmia, syndromic 11 test
Miller Dieker syndrome1 test
Miller syndrome1 test
Mitochondrial DNA depletion syndrome1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial complex I deficiency8 tests
Mitochondrial complex II deficiency, nuclear type 11 test
Mitochondrial complex III deficiency3 tests
Mitochondrial complex IV deficiency, nuclear type 12 tests
Mitochondrial encephalomyopathy1 test
Mitochondrial myopathy, isolated1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Mixed phenotype acute leukemia5 tests
Monocytopenia with susceptibility to infections1 test
Moyamoya disease1 test
Mucopolysaccharidosis type 71 test
Mucosa-associated lymphoma3 tests
Mulibrey nanism syndrome1 test
Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
Multiple congenital anomalies7 tests
Multiple endocrine neoplasia type 41 test
Multiple myeloma4 tests
Multiple sulfatase deficiency1 test
Myasthenic syndrome, congenital, 1B, fast-channel1 test
Myelodysplastic syndrome4 tests
Myelofibrosis1 test
Myeloid leukemia4 tests
Myeloproliferative disorder, chronic, with eosinophilia1 test
Myeloproliferative neoplasm1 test
Myoclonic epilepsy of Lafora 21 test
Myofibrillar myopathy 21 test
Myofibrillar myopathy 41 test
Myofibrillar myopathy 61 test
Myopathy1 test
Myopathy, lactic acidosis, and sideroblastic anemia 21 test
Myositis disease1 test
Myostatin-related muscle hypertrophy1 test
Myotonic dystrophy type 21 test
NARP syndrome1 test
Nager syndrome1 test
Nance-Horan syndrome1 test
Nanophthalmia1 test
Narcolepsy 11 test
Nemaline myopathy 51 test
Nemaline myopathy 61 test
Nemaline myopathy 71 test
Neoplasm of stomach1 test
Nephrolithiasis1 test
Nephronophthisis 141 test
Nephronophthisis-like nephropathy 11 test
Nephrotic syndrome1 test
Nephrotic syndrome, type 81 test
Neural tube defect2 tests
Neuroblastoma1 test
Neuroblastoma, susceptibility to, 31 test
Neurodegeneration with brain iron accumulation1 test
Neurodegeneration with brain iron accumulation 51 test
Neurodegeneration with brain iron accumulation 61 test
Neurogenic scapuloperoneal syndrome, Kaeser type1 test
Neuronal ceroid lipofuscinosis1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 21 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Neuronopathy, distal hereditary motor, type 2A1 test
Neuronopathy, distal hereditary motor, type 2C1 test
Neutral lipid storage myopathy1 test
Non-Hodgkin lymphoma9 tests
Noonan syndrome2 tests
Noonan-like syndrome1 test
Oculocutaneous albinism type 61 test
Oculocutaneous albinism type 71 test
Oculofaciocardiodental syndrome1 test
Odonto-onycho-dermal dysplasia1 test
Oguchi disease-21 test
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
Orofacial cleft 51 test
Osteogenesis imperfecta type 101 test
Osteogenesis imperfecta type 121 test
Osteogenesis imperfecta type 51 test
Osteogenesis imperfecta type 91 test
Osteopathia striata with cranial sclerosis1 test
Otofaciocervical syndrome1 test
PHARC syndrome1 test
PHGDH deficiency1 test
PSAT deficiency1 test
Palmoplantar keratoderma, epidermolytic1 test
Pancreatic triacylglycerol lipase deficiency1 test
Paragangliomas 31 test
Parastremmatic dwarfism1 test
Parietal foramina 11 test
Parkinson disease1 test
Parkinson disease 13, autosomal dominant, susceptibility to1 test
Parkinson disease 5, autosomal dominant, susceptibility to1 test
Parkinsonian-pyramidal syndrome1 test
Paroxysmal nonkinesigenic dyskinesia1 test
Peroxisome biogenesis disorder 14B1 test
Phelan-McDermid syndrome1 test
Pheochromocytoma3 tests
Piebaldism1 test
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly2 tests
Polymicrogyria with optic nerve hypoplasia1 test
Pontocerebellar hypoplasia type 1A1 test
Pontocerebellar hypoplasia type 1B1 test
Pontocerebellar hypoplasia type 81 test
Pontocerebellar hypoplasia, type 1C1 test
Pontoneocerebellar hypoplasia1 test
Posterior column ataxia-retinitis pigmentosa syndrome1 test
Prader-Willi syndrome3 tests
Prekallikrein deficiency1 test
Premature ovarian failure 12 tests
Primary ciliary dyskinesia1 test
Primary ciliary dyskinesia 111 test
Primary ciliary dyskinesia 131 test
Primary ciliary dyskinesia 161 test
Primary ciliary dyskinesia 171 test
Primary ciliary dyskinesia 181 test
Primary ciliary dyskinesia 191 test
Primary ciliary dyskinesia 21 test
Primary ciliary dyskinesia 91 test
Primary myelofibrosis1 test
Progressive bulbar palsy of childhood1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive myoclonic epilepsy type 31 test
Proteasome-associated autoinflammatory syndrome 11 test
Pseudohypoaldosteronism type 11 test
Pulmonary hypertension, primary, 21 test
Pulmonary hypertension, primary, 41 test
Punctate palmoplantar keratoderma type 11 test
Pure gonadal dysgenesis 46,XY3 tests
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E3 deficiency1 test
Pyruvate dehydrogenase phosphatase deficiency1 test
Qualitative or quantitative defects of dystrophin1 test
Renal tubular dysgenesis1 test
Reticular dysgenesis1 test
Retinal dystrophy1 test
Retinitis pigmentosa1 test
Retinitis pigmentosa 111 test
Retinitis pigmentosa 171 test
Retinitis pigmentosa 271 test
Retinitis pigmentosa 281 test
Retinitis pigmentosa 301 test
Retinitis pigmentosa 311 test
Retinitis pigmentosa 361 test
Retinitis pigmentosa 41 test
Retinitis pigmentosa 421 test
Retinitis pigmentosa 441 test
Retinitis pigmentosa 461 test
Retinitis pigmentosa 481 test
Retinitis pigmentosa 491 test
Retinitis pigmentosa 501 test
Retinitis pigmentosa 541 test
Retinitis pigmentosa 551 test
Retinitis pigmentosa 571 test
Retinitis pigmentosa 581 test
Retinitis pigmentosa 591 test
Retinitis pigmentosa 611 test
Retinitis pigmentosa 661 test
Retinitis pigmentosa 71 test
Retinitis pigmentosa 91 test
Retinitis pigmentosa, juvenile1 test
Retinoblastoma1 test
Retinoschisis1 test
Right isomerism1 test
Ritscher-Schinzel syndrome 21 test
Robinow syndrome2 tests
Rod-cone dystrophy1 test
SRD5A3-congenital disorder of glycosylation1 test
STING-associated vasculopathy with onset in infancy1 test
Salla disease1 test
Scalp-ear-nipple syndrome1 test
Schaaf-Yang syndrome1 test
Schinzel phocomelia syndrome1 test
Schnyder crystalline corneal dystrophy1 test
Seckel syndrome 21 test
Seckel syndrome 61 test
Senior-Loken syndrome 51 test
Severe combined immunodeficiency due to CORO1A deficiency1 test
Severe congenital hypochromic anemia with ringed sideroblasts1 test
Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
Sex-linked hereditary disorder1 test
Short stature due to primary acid-labile subunit deficiency1 test
Short stature, microcephaly, and endocrine dysfunction1 test
Sialuria1 test
Singleton-Merten syndrome 21 test
Smith-Magenis syndrome1 test
Sorsby fundus dystrophy1 test
Spastic Paraplegia 521 test
Spastic ataxia 12 tests
Spermatogenic failure 121 test
Spermatogenic failure 41 test
Spermatogenic failure 71 test
Spermatogenic failure 81 test
Spermatogenic failure 91 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 261 test
Spinocerebellar ataxia type 271 test
Spinocerebellar ataxia type 61 test
Spinocerebellar ataxia type 81 test
Spinocerebellar atrophy3 tests
Splenic marginal zone lymphoma1 test
Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
Spondylo-ocular syndrome1 test
Spondyloepimetaphyseal dysplasia1 test
Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
Spondyloepimetaphyseal dysplasia, Missouri type1 test
Spondylometaphyseal dysplasia1 test
Spondylometaphyseal dysplasia, Sedaghatian type1 test
Steinert myotonic dystrophy syndrome1 test
Sturge-Weber syndrome1 test
Sulfite oxidase deficiency1 test
Supravalvar aortic stenosis1 test
Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
Syndromic X-linked intellectual disability Nascimento type1 test
Syndromic X-linked intellectual disability Snyder type1 test
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
Tatton-Brown-Rahman overgrowth syndrome2 tests
Thiopurine S-methyltransferase deficiency1 test
Thrombocythemia 11 test
Thrombocythemia 21 test
Thrombocytopenia 21 test
Thrombophilia1 test
Thyrotoxic periodic paralysis, susceptibility to, 21 test
Tooth agenesis, selective, 31 test
Torsion dystonia 21 test
Townes-Brocks syndrome 21 test
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Trichohepatoenteric syndrome 21 test
Trichothiodystrophy1 test
Trichothiodystrophy 3, photosensitive1 test
Trichothiodystrophy 4, nonphotosensitive1 test
Triosephosphate isomerase deficiency1 test
Trisomy X syndrome2 tests
Turner syndrome2 tests
Type A2 brachydactyly2 tests
UV-sensitive syndrome 31 test
Unverricht-Lundborg syndrome1 test
Urocanate hydratase deficiency1 test
Usher syndrome type 1G1 test
Usher syndrome type 1J1 test
Usher syndrome type 3A1 test
Usher syndrome type 3B1 test
VEXAS syndrome1 test
Vesicoureteral reflux 31 test
Waardenburg syndrome type 2D1 test
Walker-Warburg congenital muscular dystrophy1 test
Warburg micro syndrome 31 test
Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
Wiedemann-Steiner syndrome1 test
Williams syndrome1 test
Wilson disease1 test
Wilson-Turner syndrome2 tests
Winchester syndrome1 test
Woodhouse-Sakati syndrome1 test
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
X-linked intellectual disability, Cantagrel type1 test
X-linked intellectual disability, Stocco dos Santos type1 test
Xanthinuria type II1 test
Xeroderma pigmentosum variant type1 test
Zellweger spectrum disorders8 tests