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Baylor Genetics
MitoMet®Plus aCGH Analysis
MitoMet®Plus aCGH Analysis
At a Glance
Thrombocytopenia 2;
3 beta-Hydroxysteroid dehydrogenase deficiency;
3-Methylglutaconic aciduria type 2
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Thrombocytopenia 2
3 beta-Hydroxysteroid dehydrogenase deficiency
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 5
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
AICA-ribosiduria
ALG1-congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation
ALG2-congenital disorder of glycosylation
ALG3-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation 1C
ALG8 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
Acatalasia
Acetyl-CoA acetyltransferase-2 deficiency
Acetyl-CoA: carboxylase deficiency
Achondrogenesis type II
Achromatopsia 2
Achromatopsia 3
Achromatopsia 4
Acne inversa, familial, 3
Acromicric dysplasia
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acyl-CoA dehydrogenase 9 deficiency
Acyl-CoA oxidase deficiency
Adenylosuccinate lyase deficiency
Adrenocortical carcinoma, hereditary
Adrenoleukodystrophy
Adult-onset foveomacular vitelliform dystrophy
Age related macular degeneration 10
Age related macular degeneration 2
Alagille syndrome due to a JAG1 point mutation
Aland island eye disease
Alcohol sensitivity, acute
Alpha-methylacyl-CoA racemase deficiency
Alstrom syndrome
Alzheimer disease
Alzheimer disease 3
Aminoglycoside-induced deafness
Amish lethal microcephaly
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 12
Amyotrophic neuralgia
Angelman syndrome
Anhaptoglobinemia
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anterior segment dysgenesis 1
Anterior segment dysgenesis 3
Anterior segment dysgenesis 4
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Argininosuccinate lyase deficiency
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Aspartate aminotransferase, serum level of, quantitative trait locus 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Atrophia bulborum hereditaria
Autism, susceptibility to, X-linked 3
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
Autoimmune lymphoproliferative syndrome type 2B
Autosomal dominant nonsyndromic hearing loss 10
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant nonsyndromic hearing loss 64
Autosomal dominant optic atrophy classic form
Autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 2
Autosomal dominant vitreoretinochoroidopathy
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive bestrophinopathy
Autosomal recessive congenital ichthyosis 4A
Autosomal recessive congenital ichthyosis 4B
Autosomal recessive cutis laxa type 1
Autosomal recessive cutis laxa type 2B
Autosomal recessive early-onset Parkinson disease 6
Autosomal recessive early-onset Parkinson disease 7
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 31
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 74
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 5
Autosomal recessive osteopetrosis 7
Avascular necrosis of femoral head, primary, 1
Avellino corneal dystrophy
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
B4GALT1-congenital disorder of glycosylation
Bardet-Biedl syndrome
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Beta-D-mannosidosis
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Bietti crystalline corneoretinal dystrophy
Bifunctional peroxisomal enzyme deficiency
Biotinidase deficiency
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Body mass index quantitative trait locus 4
Bone fragility with contractures, arterial rupture, and deafness
Bone mineral density quantitative trait locus 1
Bothnia retinal dystrophy
Bradyopsia
Branchiootic syndrome 1
Branchiootorenal syndrome 1
Breast-ovarian cancer, familial, susceptibility to, 1
Bruck syndrome 2
Brunner syndrome
COACH syndrome
COG1 congenital disorder of glycosylation
COG7 congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
Carcinoma of pancreas
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Carney-Stratakis syndrome
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carotid intimal medial thickness 1
Cataract 11 multiple types
Cataract 14 multiple types
Cataract 16 multiple types
Cataract 18
Cataract 40
Cerebral amyloid angiopathy, APP-related
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Cholestanol storage disease
Cholestasis, intrahepatic, of pregnancy, 1
Chondrocalcinosis 2
Choroid plexus papilloma
Choroidal dystrophy, central areolar 2
Choroideremia
Christianson syndrome
Chromosome Xp11.22 duplication syndrome
Chuvash polycythemia
Citrullinemia type I
Citrullinemia type II
Classic homocystinuria
Classical phenylketonuria
Cobalamin C disease
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Combined PSAP deficiency
Combined deficiency of sialidase AND beta galactosidase
Combined malonic and methylmalonic acidemia
Combined molybdoflavoprotein enzyme deficiency
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Complex cortical dysplasia with other brain malformations 1
Conduction disorder of the heart
Cone dystrophy 3
Cone dystrophy 4
Cone dystrophy with supernormal rod response
Cone monochromatism
Cone-rod dystrophy 10
Cone-rod dystrophy 12
Cone-rod dystrophy 13
Cone-rod dystrophy 15
Cone-rod dystrophy 16
Cone-rod dystrophy 2
Cone-rod dystrophy 3
Cone-rod dystrophy 5
Cone-rod dystrophy 6
Cone-rod dystrophy 7
Cone-rod dystrophy 9
Cone-rod synaptic disorder, congenital nonprogressive
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Congenital bile acid synthesis defect 4
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital central hypoventilation
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type Ir
Congenital fibrosis of extraocular muscles type 1
Congenital generalized lipodystrophy type 4
Congenital hyperammonemia, type I
Congenital hypomyelinating neuropathy
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital stationary night blindness 1A
Congenital stationary night blindness 1B
Congenital stationary night blindness 1C
Congenital stationary night blindness 1D
Congenital stationary night blindness 2A
Congenital stationary night blindness autosomal dominant 1
Congenital stationary night blindness autosomal dominant 2
Congenital stationary night blindness autosomal dominant 3
Corneal dystrophy, Fuchs endothelial, 6
Corneal dystrophy, lattice type 3A
Coronary artery disease, autosomal dominant, 1
Corticosterone 18-monooxygenase deficiency
Corticosterone methyloxidase type 2 deficiency
Cowden syndrome
Craniodiaphyseal dysplasia, autosomal dominant
Craniofacial anomalies and anterior segment dysgenesis syndrome
Craniometaphyseal dysplasia, autosomal dominant
Cutis laxa with osteodystrophy
Cutis laxa, X-linked
Cutis laxa, autosomal dominant 1
Cutis laxa, autosomal dominant 2
Cystic fibrosis
Cystinuria
Cytochrome-c oxidase deficiency
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
D-Glyceric aciduria
DPM3-congenital disorder of glycosylation
Deafness dystonia syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of acetyl-CoA acetyltransferase
Deficiency of alpha-mannosidase
Deficiency of butyryl-CoA dehydrogenase
Deficiency of cytochrome-b5 reductase
Deficiency of galactokinase
Deficiency of guanidinoacetate methyltransferase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of isobutyryl-CoA dehydrogenase
Deficiency of malonyl-CoA decarboxylase
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 17-alpha-monooxygenase
Dejerine-Sottas disease
Dent disease type 2
Dermatofibrosis lenticularis disseminata
Deuteranomaly
Developmental and epileptic encephalopathy, 39
Developmental and epileptic encephalopathy, 4
Diabetes mellitus type 1
Diamond-Blackfan anemia 5
Diaphyseal dysplasia
Dihydropteridine reductase deficiency
Dilated cardiomyopathy 1J
Dilated cardiomyopathy 1U
Dimethylglycine dehydrogenase deficiency
Dominant beta-thalassemia
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Doyne honeycomb retinal dystrophy
Drash syndrome
Dystonia 16
Early myoclonic encephalopathy
Ectopia lentis 1, isolated, autosomal dominant
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Ehlers-Danlos syndrome, spondylodysplastic type, 1
Ehlers-Danlos syndrome, type 3
Ehlers-Danlos syndrome, type 4
Encephalopathy, acute, infection-induced, susceptibility to, 4
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Epidermolysis bullosa simplex 1A, generalized severe
Epidermolysis bullosa simplex 1C, localized
Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Koebner type
Epithelial basement membrane dystrophy
Ethylmalonic encephalopathy
Exercise-induced hyperinsulinism
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 2, X-linked
Exudative vitreoretinopathy 4
Exudative vitreoretinopathy 5
Familial adenomatous polyposis 2
Familial aplasia of the vermis
Familial colorectal cancer
Familial expansile osteolysis
Familial infantile myasthenia
Familial medullary thyroid carcinoma
Familial prostate cancer
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fanconi renotubular syndrome 2
Fasting plasma glucose level quantitative trait locus 5
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Febrile seizures, familial, 4
Fetal hemoglobin quantitative trait locus 1
Fibrosis of extraocular muscles, congenital, 2
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Finnish type amyloidosis
Frasier syndrome
Friedreich ataxia 1
Frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Fructose-biphosphatase deficiency
Fumarase deficiency
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GNE myopathy
GRACILE syndrome
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Galactosylceramide beta-galactosidase deficiency
Gamma-aminobutyric acid transaminase deficiency
Gastrointestinal stromal tumor
Gaucher disease due to saposin C deficiency
Geleophysic dysplasia 2
Glaucoma 1, open angle, A
Glaucoma 3A
Glaucoma, normal tension, susceptibility to
Glioma susceptibility 1
Glucocorticoid-remediable aldosteronism
Glucose-6-phosphate transport defect
Glutaric aciduria, type 1
Gluthathione peroxidase deficiency
Glycogen storage disease IXa1
Glycogen storage disease IXb
Glycogen storage disease IXc
Glycogen storage disease IXd
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease type III
Glycogen storage disease type X
Glycogen storage disease, type II
Glycogen storage disease, type IV
Glycogen storage disease, type V
Glycogen storage disease, type VI
Glycogen storage disease, type VII
Glycogen storage disorder due to hepatic glycogen synthase deficiency
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Groenouw corneal dystrophy type I
HNSHA due to aldolase A deficiency
HSD10 mitochondrial disease
Heinz body anemia
Helicoid peripapillary chorioretinal degeneration
Hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to hexokinase deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Hepatic adenomas, familial
Hepatocellular carcinoma
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary coproporphyria
Hereditary diffuse gastric adenocarcinoma
Hereditary fructosuria
Hereditary intrinsic factor deficiency
Hereditary leiomyomatosis and renal cell cancer
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary spastic paraplegia 13
Hereditary spastic paraplegia 31
Hereditary spastic paraplegia 7
Hereditary xanthinuria type 1
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 8
Hirschsprung disease, susceptibility to, 1
Holocarboxylase synthetase deficiency
Holoprosencephaly 3
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Hurthle cell carcinoma of thyroid
Hydroxyacyl glutathione hydrolase deficiency
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Hyper-IgM syndrome type 5
Hyperammonemia, type III
Hypercalcemia, infantile, 1
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperlipoproteinemia type IV
Hyperlysinemia
Hyperornithinemia
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperphosphatasemia tarda
Hyperphosphatasemia with bone disease
Hyperprolinemia type 2
Hypertrophic cardiomyopathy 1
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hypomyelinating leukodystrophy 4
Hypophosphatemic nephrolithiasis/osteoporosis 1
Hypophosphatemic nephrolithiasis/osteoporosis 2
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hypotonia with lactic acidemia and hyperammonemia
Idiopathic generalized epilepsy
Imerslund-Grasbeck syndrome
Immunodeficiency 27A
Immunodeficiency 31B
Immunodeficiency 83, susceptibility to viral infections
Inborn glycerol kinase deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Increased analgesia from kappa-opioid receptor agonist, female-specific
Infantile GM1 gangliosidosis
Infantile cerebellar-retinal degeneration
Infantile cortical hyperostosis
Infantile onset spinocerebellar ataxia
Intellectual disability, X-linked 63
Intellectual disability, autosomal recessive 7
Irido-corneo-trabecular dysgenesis
Ischemic stroke
Isolated microphthalmia 3
Isolated microphthalmia 5
Isolated optic nerve hypoplasia
Isovaleryl-CoA dehydrogenase deficiency
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 9
Joubert syndrome with renal defect
Juvenile retinoschisis
Kahrizi syndrome
Keratoconus 1
Keratosis palmoplantaris striata 2
Kniest dysplasia
Kostmann syndrome
Krabbe disease due to saposin A deficiency
L-2-hydroxyglutaric aciduria
LEOPARD syndrome 2
Langereis blood group
Late-onset retinal degeneration
Lattice corneal dystrophy Type I
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Legg-Calve-Perthes disease
Leigh syndrome
Lesch-Nyhan syndrome
Lethal acantholytic epidermolysis bullosa
Lethal osteosclerotic bone dysplasia
Leukocyte adhesion deficiency type II
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Lewy body dementia
Li-Fraumeni syndrome 1
Linear skin defects with multiple congenital anomalies 1
Lipoic acid synthetase deficiency
Lissencephaly type 3
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Low phospholipid associated cholelithiasis
Lowe syndrome
Lung carcinoma
MASS syndrome
MGAT2-congenital disorder of glycosylation
MHC class I deficiency
MORM syndrome
MPDU1-congenital disorder of glycosylation
MPI-congenital disorder of glycosylation
Macular degeneration, X-linked atrophic
Macular degeneration, age-related, 3
Malignant tumor of breast
Malignant tumor of esophagus
Malignant tumor of prostate
Malignant tumor of urinary bladder
Maple syrup urine disease
Marfan syndrome
Matthew-Wood syndrome
Maturity-onset diabetes of the young type 2
Maturity-onset diabetes of the young type 3
Maturity-onset diabetes of the young type 6
McKusick-Kaufman syndrome
Meacham syndrome
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 6
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Meesmann corneal dystrophy
Melanoma, cutaneous malignant, susceptibility to, 5
Melorheostosis
Menkes kinky-hair syndrome
Mesothelioma, malignant
Metabolic myopathy due to lactate transporter defect
Methemoglobinemia type 4
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylmalonate semialdehyde dehydrogenase deficiency
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic aciduria and homocystinuria type cblD
Methylmalonic aciduria and homocystinuria type cblF
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Microphthalmia, isolated, with coloboma 5
Microphthalmia, isolated, with coloboma 7
Microvascular complications of diabetes, susceptibility to, 6
Miller syndrome
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 8a
Mitochondrial DNA depletion syndrome 9
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial trifunctional protein deficiency
Mucolipidosis type II
Mucopolysaccharidosis type 7
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-B
Multiple acyl-CoA dehydrogenase deficiency
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 1
Multiple epiphyseal dysplasia, Beighton type
Multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 2
Myelodysplastic syndrome associated with isolated del(5q)
Myofibrillar myopathy 2
Myoglobinuria, acute recurrent, autosomal recessive
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, lactic acidosis, and sideroblastic anemia 2
NPHP3-related Meckel-like syndrome
Nail-patella syndrome
Namaqualand hip dysplasia
Nance-Horan syndrome
Nanophthalmos 2
Nasopharyngeal carcinoma
Neonatal intrahepatic cholestasis due to citrin deficiency
Nephronophthisis 1
Nephronophthisis 11
Nephronophthisis 3
Nephronophthisis 4
Nephronophthisis-like nephropathy 1
Nephrotic syndrome, type 4
Neural tube defects, folate-sensitive
Neuroblastoma, susceptibility to
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronopathy, distal hereditary motor, type 5
Neuropathy, hereditary sensory and autonomic, type 1C
Neutral lipid storage myopathy
Newfoundland cone-rod dystrophy
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Non-ketotic hyperglycinemia
Nonpapillary renal cell carcinoma
Noonan syndrome 5
Nystagmus 1, congenital, X-linked
Nystagmus 6, congenital, X-linked
Obesity
Occult macular dystrophy
Ocular albinism with congenital sensorineural hearing loss
Ocular albinism, type I
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Oculofaciocardiodental syndrome
Oguchi disease-1
Oguchi disease-2
Opioid dependence, susceptibility to, 1
Optic atrophy 3
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Ornithine carbamoyltransferase deficiency
Osteogenesis imperfecta type 11
Osteogenesis imperfecta type 12
Osteogenesis imperfecta type 6
Osteogenesis imperfecta type 7
Osteogenesis imperfecta type 8
Osteogenesis imperfecta type 9
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, recessive perinatal lethal
Osteopathia striata with cranial sclerosis
Osteopetrosis with renal tubular acidosis
Osteoporosis with pseudoglioma
Osteosarcoma
Otofaciocervical syndrome 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Oxoglutaricaciduria
PGM1-congenital disorder of glycosylation
PHARC syndrome
PMM2-congenital disorder of glycosylation
PPARG-related familial partial lipodystrophy
PYCR1-related de Barsy syndrome
Paget disease of bone 2, early-onset
Pancreatic cancer, susceptibility to, 4
Pancreatic insufficiency-anemia-hyperostosis syndrome
Panic disorder 1
Papillary thyroid carcinoma
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Parkinson disease 13, autosomal dominant, susceptibility to
Paroxysmal nonkinesigenic dyskinesia
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Patterned macular dystrophy 1
Pendred syndrome
Permanent neonatal diabetes mellitus
Perrault syndrome 1
Persistent fetal circulation syndrome
Pheochromocytoma
Phosphate transport defect
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Phytanic acid storage disease
Pick disease
Pigmentary pallidal degeneration
Pigmentary retinal dystrophy
Pigmented paravenous retinochoroidal atrophy
Pili torti-deafness syndrome
Pilomatrixoma
Pituitary hormone deficiency, combined, 6
Platyspondylic dysplasia, Torrance type
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Pontocerebellar hypoplasia type 6
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior polymorphous corneal dystrophy 1
Posterior polymorphous corneal dystrophy 3
Postmenopausal osteoporosis
Premature ovarian failure 3
Primary ciliary dyskinesia 14
Primary hyperoxaluria, type I
Primary open angle glaucoma
Progressive demyelinating neuropathy with bilateral striatal necrosis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive sclerosing poliodystrophy
Proline dehydrogenase deficiency
Propionic acidemia
Protan defect
Protoporphyria, erythropoietic, 1
Pseudo-Hurler polydystrophy
Pyknodysostosis
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase phosphatase deficiency
RFT1-congenital disorder of glycosylation
Reis-Bucklers' corneal dystrophy
Renal carnitine transport defect
Renal coloboma syndrome
Renal cysts and diabetes syndrome
Renal dysplasia and retinal aplasia
Renal-hepatic-pancreatic dysplasia 1
Reticular dysgenesis
Reticulate acropigmentation of Kitamura
Retinal cone dystrophy 4
Retinal macular dystrophy type 2
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis pigmentosa 10
Retinitis pigmentosa 11
Retinitis pigmentosa 12
Retinitis pigmentosa 13
Retinitis pigmentosa 14
Retinitis pigmentosa 17
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 27
Retinitis pigmentosa 28
Retinitis pigmentosa 3
Retinitis pigmentosa 30
Retinitis pigmentosa 31
Retinitis pigmentosa 33
Retinitis pigmentosa 36
Retinitis pigmentosa 38
Retinitis pigmentosa 39
Retinitis pigmentosa 4
Retinitis pigmentosa 40
Retinitis pigmentosa 41
Retinitis pigmentosa 42
Retinitis pigmentosa 43
Retinitis pigmentosa 44
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 47
Retinitis pigmentosa 48
Retinitis pigmentosa 49
Retinitis pigmentosa 50
Retinitis pigmentosa 51
Retinitis pigmentosa 54
Retinitis pigmentosa 55
Retinitis pigmentosa 56
Retinitis pigmentosa 57
Retinitis pigmentosa 58
Retinitis pigmentosa 59
Retinitis pigmentosa 60
Retinitis pigmentosa 61
Retinitis pigmentosa 7
Retinitis pigmentosa 9
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Retinoblastoma
Rett syndrome
Rheumatoid arthritis
Rhizomelic chondrodysplasia punctata type 3
Ring dermoid of cornea
Roussy-Lévy syndrome
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
SLC35A1-congenital disorder of glycosylation
SRD5A3-congenital disorder of glycosylation
Saccharopinuria
Sandhoff disease
Sarcosine dehydrogenase deficiency
Sarcotubular myopathy
Schizencephaly
Schizophrenia
Schizophrenia 4
Sclerosteosis 1
Sengers syndrome
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Septo-optic dysplasia sequence
Severe X-linked mitochondrial encephalomyopathy
Severe early-childhood-onset retinal dystrophy
Severe neonatal-onset encephalopathy with microcephaly
Shprintzen-Goldberg syndrome
Sialuria
Sideroblastic anemia 2
Sjögren-Larsson syndrome
Skin/hair/eye pigmentation, variation in, 11
Skin/hair/eye pigmentation, variation in, 2
Small cell lung carcinoma
Snowflake vitreoretinal degeneration
Solitary median maxillary central incisor syndrome
Sorsby fundus dystrophy
Spastic ataxia 4
Spastic ataxia 5
Sphingolipid activator protein 1 deficiency
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 28
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondyloperipheral dysplasia
Stargardt disease 3
Stargardt disease 4
Sterol carrier protein 2 deficiency
Stiff skin syndrome
Succinate-semialdehyde dehydrogenase deficiency
Succinyl-CoA acetoacetate transferase deficiency
Sulfocysteinuria
Supravalvar aortic stenosis
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Syndromic X-linked intellectual disability Lubs type
Syndromic microphthalmia type 5
Tay-Sachs disease
Tay-Sachs disease, variant AB
Tetralogy of Fallot
Thiel-Behnke corneal dystrophy
Thrombocytopenia 4
Thrombophilia
Thrombophilia due to protein C deficiency, autosomal dominant
Thrombophilia due to protein C deficiency, autosomal recessive
Thyroid hormone metabolism, abnormal
Transcobalamin II deficiency
Transient infantile hypertriglyceridemia and hepatosteatosis
Triglyceride storage disease with ichthyosis
Type 1 diabetes mellitus 20
Type 2 diabetes mellitus
Tyrosinase-positive oculocutaneous albinism
Tyrosinemia type I
Tyrosinemia type II
UDPglucose-4-epimerase deficiency
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome type 1G
Usher syndrome type 2A
Usher syndrome type 2C
Usher syndrome type 2D
Usher syndrome type 3
Usher syndrome type 3B
Van Buchem disease type 2
Variegate porphyria
Very long chain acyl-CoA dehydrogenase deficiency
Vitamin D-dependent rickets, type 1
Vitelliform macular dystrophy
Von Hippel-Lindau syndrome
Weill-Marchesani syndrome 2, dominant
Wilson disease
Wolfram syndrome
Wolfram syndrome 2
Wolfram-like syndrome
Woolly hair-skin fragility syndrome
Worth disease
Wrinkly skin syndrome
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 3
X-linked distal spinal muscular atrophy type 3
X-linked erythropoietic protoporphyria
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked sideroblastic anemia 1
X-linked sideroblastic anemia with ataxia
beta Thalassemia
de Barsy syndrome
AARS2 (6p21.1);
AASS (7q31.32);
ABAT (16p13.2);
ABCA12 (2q35);
ABCA4 (1p22.1)
more...
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization
Ordering Information
Test Order Code:
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2000
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
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Contact policy,
Test strategy,
Test development
Conditions
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Total conditions: 842
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 637
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
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Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Analytical Validity:
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Analytical Sensitivity >99%. Analytical Specificity >98% for deletions/duplications >1.0kb in the targeted gene region
View citations (1)
Analytical validity of LDT is determined during validation of test following CLIA and CAP recommendations.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Recommended fields not provided:
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Major CAP category, CAP category, CAP test list
Regulatory Approval
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Not provided
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