Mitochondrial genome sequencing
At a Glance
Diagnosis;
Mutation Confirmation
Acetyl-CoA: carboxylase deficiency;
2-hydroxyglutaric aciduria;
3-Methylglutaconic aciduria type 2
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Acetyl-CoA: carboxylase deficiency
2-hydroxyglutaric aciduria
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria, type VIIB
Abortive cerebellar ataxia
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acyl-CoA dehydrogenase 9 deficiency
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Alport syndrome
Alzheimer disease, susceptibility to, mitochondrial
Aminoglycoside antibacterials response
Aminoglycoside-induced deafness
Amish lethal microcephaly
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 4
Arginine:glycine amidinotransferase deficiency
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Auditory neuropathy-optic atrophy syndrome
Autosomal dominant centronuclear myopathy
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant optic atrophy classic form
Autosomal dominant progressive external ophthalmoplegia
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive nonsyndromic hearing loss 70
Autosomal recessive nonsyndromic hearing loss 89
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive spinocerebellar ataxia 10
Autosomal recessive spinocerebellar ataxia 2
BIPARENTAL MITOCHONDRIAL DNA TRANSMISSION
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Biotin-responsive basal ganglia disease
Biotinidase deficiency
Bosch-Boonstra-Schaaf optic atrophy syndrome
Branchiootorenal Spectrum Disorders
CODAS syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Cardiomyopathy, mitochondrial
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
Carnitine palmitoyltransferase I deficiency , muscle
Carnitine palmitoyltransferase II deficiency
Cataract 38
Cataract 41
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charlevoix-Saguenay spastic ataxia
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Citrullinemia type II
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Coenzyme q10 deficiency, primary, 9
Colorectal cancer
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 30
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation deficiency 19
Combined oxidative phosphorylation deficiency 22
Combined oxidative phosphorylation deficiency 28
Combined oxidative phosphorylation deficiency 32
Combined oxidative phosphorylation deficiency 33
Combined oxidative phosphorylation deficiency 34
Combined oxidative phosphorylation deficiency 35
Combined oxidative phosphorylation deficiency 36
Combined oxidative phosphorylation deficiency 37
Combined oxidative phosphorylation deficiency 38
Combined oxidative phosphorylation deficiency 39
Combined oxidative phosphorylation deficiency 40
Combined oxidative phosphorylation deficiency 41
Combined oxidative phosphorylation deficiency 42
Combined oxidative phosphorylation deficiency 43
Combined oxidative phosphorylation deficiency 44
Combined oxidative phosphorylation deficiency 45
Combined oxidative phosphorylation deficiency 46
Combined oxidative phosphorylation deficiency 48
Combined oxidative phosphorylation deficiency 51
Complex V deficiency
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital myasthenic syndrome
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Creatine transporter deficiency
Danon disease
Deafness dystonia syndrome
Deafness, X-linked 5
Deafness, congenital, and adult-onset progressive leukoencephalopathy
Deafness, mitochondrial, modifier of
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of acetyl-CoA acetyltransferase
Deficiency of butyryl-CoA dehydrogenase
Deficiency of guanidinoacetate methyltransferase
Deficiency of hydroxymethylglutaryl-CoA lyase
Developmental and epileptic encephalopathy, 39
Developmental and epileptic encephalopathy, 51
Developmental and epileptic encephalopathy, 75
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Dilated cardiomyopathy 1GG
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Encephalopathy due to mitochondrial and peroxisomal fission defect
Encephalopathy, acute, infection-induced, susceptibility to, 4
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Ethylmalonic encephalopathy
Exercise intolerance, riboflavin-responsive
FASTKD2-related infantile mitochondrial encephalomyopathy
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 5
Fatal infantile mitochondrial cardiomyopathy
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Fatal multiple mitochondrial dysfunctions syndrome
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Fructose-biphosphatase deficiency
Fumarase deficiency
GRACILE syndrome
Gamma-aminobutyric acid transaminase deficiency
Gastrointestinal stromal tumor
Gaze palsy, familial horizontal, with progressive scoliosis, 2
Gentamicin response
Glaucoma, normal tension, susceptibility to
Glucose-6-phosphate transport defect
Glutaric aciduria, type 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease, type II
Glycogen storage disorder due to hepatic glycogen synthase deficiency
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
HSD10 mitochondrial disease
Harel-Yoon syndrome
Hearing loss, autosomal recessive 94
Hearing loss, sensorineural, autosomal-mitochondrial type
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary hearing loss and deafness
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 4
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia 74
Hereditary spastic paraplegia 77
Holocarboxylase synthetase deficiency
Hurthle cell carcinoma of thyroid
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hyperinsulinemic hypoglycemia, familial, 4
Hyperlysinemia due to defect in lysine transport into mitochondria
Hypermetabolism due to defect in mitochondria
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
Hypomyelinating leukodystrophy 4
Hypomyelinating leukodystrophy 9
Hypotonia with lactic acidemia and hyperammonemia
Inborn mitochondrial myopathy
Infantile cerebellar-retinal degeneration
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile liver failure syndrome 1
Infantile onset spinocerebellar ataxia
Intrauterine growth retardation with increased mitomycin c sensitivity
Jervell and Lange-Nielsen syndrome 1
Leigh syndrome due to mitochondrial complex IV deficiency
Lethal infantile mitochondrial myopathy
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
Leukoencephalopathy, progressive, with ovarian failure
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Linear skin defects with multiple congenital anomalies 1
Linear skin defects with multiple congenital anomalies 2
Linear skin defects with multiple congenital anomalies 3
Lipoic acid synthetase deficiency
Lipoyl transferase 1 deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
Lower motor neuron syndrome with late-adult onset
Malignant tumor of esophagus
Maternally-inherited mitochondrial dystonia
Maternally-inherited mitochondrial myopathy
Maturity-onset diabetes of the young type 4
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Megaconial type congenital muscular dystrophy
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Microcephaly, growth restriction, and increased sister chromatid exchange 2
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Mirror movements 1
Mitochondrial DNA Deletion Syndromes
Mitochondrial DNA deletion syndrome with progressive myopathy
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 11
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Mitochondrial DNA depletion syndrome 17
Mitochondrial DNA depletion syndrome 18
Mitochondrial DNA depletion syndrome 19
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 8B (MNGIE type)
Mitochondrial DNA depletion syndrome 8a
Mitochondrial DNA depletion syndrome 9
Mitochondrial DNA depletion syndrome, encephalomyopathic form
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA maintenance syndrome
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Mitochondrial complex 1 deficiency, mitochondrial type 1
Mitochondrial complex 1 deficiency, nuclear type 10
Mitochondrial complex 1 deficiency, nuclear type 11
Mitochondrial complex 1 deficiency, nuclear type 12
Mitochondrial complex 1 deficiency, nuclear type 13
Mitochondrial complex 1 deficiency, nuclear type 14
Mitochondrial complex 1 deficiency, nuclear type 15
Mitochondrial complex 1 deficiency, nuclear type 16
Mitochondrial complex 1 deficiency, nuclear type 17
Mitochondrial complex 1 deficiency, nuclear type 18
Mitochondrial complex 1 deficiency, nuclear type 19
Mitochondrial complex 1 deficiency, nuclear type 2
Mitochondrial complex 1 deficiency, nuclear type 21
Mitochondrial complex 1 deficiency, nuclear type 22
Mitochondrial complex 1 deficiency, nuclear type 23
Mitochondrial complex 1 deficiency, nuclear type 24
Mitochondrial complex 1 deficiency, nuclear type 25
Mitochondrial complex 1 deficiency, nuclear type 26
Mitochondrial complex 1 deficiency, nuclear type 27
Mitochondrial complex 1 deficiency, nuclear type 28
Mitochondrial complex 1 deficiency, nuclear type 29
Mitochondrial complex 1 deficiency, nuclear type 3
Mitochondrial complex 1 deficiency, nuclear type 30
Mitochondrial complex 1 deficiency, nuclear type 31
Mitochondrial complex 1 deficiency, nuclear type 32
Mitochondrial complex 1 deficiency, nuclear type 33
Mitochondrial complex 1 deficiency, nuclear type 34
Mitochondrial complex 1 deficiency, nuclear type 35
Mitochondrial complex 1 deficiency, nuclear type 36
Mitochondrial complex 1 deficiency, nuclear type 37
Mitochondrial complex 1 deficiency, nuclear type 4
Mitochondrial complex 1 deficiency, nuclear type 5
Mitochondrial complex 1 deficiency, nuclear type 6
Mitochondrial complex 1 deficiency, nuclear type 7
Mitochondrial complex 1 deficiency, nuclear type 8
Mitochondrial complex 1 deficiency, nuclear type 9
Mitochondrial complex 2 deficiency, nuclear type 2
Mitochondrial complex 2 deficiency, nuclear type 3
Mitochondrial complex 2 deficiency, nuclear type 4
Mitochondrial complex 3 deficiency, nuclear type 10
Mitochondrial complex 4 deficiency, nuclear type 10
Mitochondrial complex 4 deficiency, nuclear type 11
Mitochondrial complex 4 deficiency, nuclear type 12
Mitochondrial complex 4 deficiency, nuclear type 14
Mitochondrial complex 4 deficiency, nuclear type 15
Mitochondrial complex 4 deficiency, nuclear type 16
Mitochondrial complex 4 deficiency, nuclear type 17
Mitochondrial complex 4 deficiency, nuclear type 18
Mitochondrial complex 4 deficiency, nuclear type 19
Mitochondrial complex 4 deficiency, nuclear type 20
Mitochondrial complex 4 deficiency, nuclear type 21
Mitochondrial complex 4 deficiency, nuclear type 3
Mitochondrial complex 4 deficiency, nuclear type 4
Mitochondrial complex 4 deficiency, nuclear type 7
Mitochondrial complex 4 deficiency, nuclear type 8
Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, mitochondrial type
Mitochondrial complex I deficiency, nuclear type
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex III deficiency
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex III deficiency nuclear type 2
Mitochondrial complex III deficiency nuclear type 3
Mitochondrial complex III deficiency nuclear type 4
Mitochondrial complex III deficiency nuclear type 5
Mitochondrial complex III deficiency nuclear type 6
Mitochondrial complex III deficiency nuclear type 7
Mitochondrial complex III deficiency nuclear type 8
Mitochondrial complex III deficiency nuclear type 9
Mitochondrial complex III deficiency, nuclear type
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex IV deficiency, nuclear-type
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 4B
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Mitochondrial disease
Mitochondrial disease with dilated cardiomyopathy
Mitochondrial disease with epilepsy
Mitochondrial disease with hypertrophic cardiomyopathy
Mitochondrial disease with peripheral neuropathy
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Mitochondrial encephalomyopathy
Mitochondrial encephalopathy
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial import-stimulating factor
Mitochondrial intermembrane space protein Tim12, yeast, homolog of
Mitochondrial membrane transport disorder
Mitochondrial myopathy with a defect in mitochondrial-protein transport
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Mitochondrial myopathy, isolated
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial non-syndromic sensorineural hearing loss
Mitochondrial oxidative phosphorylation disorder
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Mitochondrial protein import disorder
Mitochondrial proton-transporting ATP synthase complex deficiency
Mitochondrial pyruvate carrier deficiency
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Mitochondrial substrate carrier disorder
Mitochondrial trifunctional protein deficiency
Multiple acyl-CoA dehydrogenase deficiency
Multiple mitochondrial DNA deletion syndrome
Multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 2
Multiple mitochondrial dysfunctions syndrome 3
Multiple mitochondrial dysfunctions syndrome 4
Multiple mitochondrial dysfunctions syndrome 5
Multiple mitochondrial dysfunctions syndrome 6
Multiple system atrophy
Myasthenic syndrome, congenital, 23, presynaptic
Myopathy with abnormal lipid metabolism
Myopathy with giant abnormal mitochondria
Myopathy, lactic acidosis, and sideroblastic anemia
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, lactic acidosis, and sideroblastic anemia 2
Myopia 6
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Nephronophthisis-like nephropathy 1
Nephrotic syndrome, type 9
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
Neurodegeneration with ataxia and late-onset optic atrophy
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neurofibromatosis, type 2
Neuronopathy, distal hereditary motor, type 5A
Neuronopathy, distal hereditary motor, type 5B
Neuropathy, hereditary motor and sensory, type 6B
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures
Optic atrophy 11
Optic atrophy 12
Optic atrophy 3
Optic atrophy 5
Optic atrophy 9
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Ornithine carbamoyltransferase deficiency
Ovarian dysgenesis 7
Pancreatic agenesis 1
Pancreatic insufficiency-anemia-hyperostosis syndrome
Paragangliomas 1
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Paragangliomas 5
Parkinson disease
Parkinson disease 13, autosomal dominant, susceptibility to
Permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder
Perrault syndrome 2
Perrault syndrome 3
Perrault syndrome 4
Perrault syndrome 5
Perrault syndrome 6
Pheochromocytoma
Phosphate transport defect
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Pili torti-deafness syndrome
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
Portal hypertension, noncirrhotic
Primary coenzyme Q10 deficiency 8
Primary dilated cardiomyopathy
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Progressive demyelinating neuropathy with bilateral striatal necrosis
Progressive encephalopathy with leukodystrophy due to DECR deficiency
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 external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Progressive sclerosing poliodystrophy
Propionic acidemia
Prostate cancer, hereditary, 2
Proximal myopathy with extrapyramidal signs
Proximal myopathy with focal depletion of mitochondria
Pseudo-TORCH syndrome 3
Pure mitochondrial myopathy
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase phosphatase deficiency
RRM2B-related mitochondrial disease
Recessive mitochondrial ataxia syndrome
Renal carnitine transport defect
Retinitis pigmentosa
Retinitis pigmentosa 46
Retinitis pigmentosa 90
Retinitis pigmentosa and erythrocytic microcytosis
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
Seckel syndrome 8
Sengers syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe X-linked mitochondrial encephalomyopathy
Sideroblastic anemia 2
Sideroblastic anemia 3
Spastic ataxia 3
Spastic ataxia 4
Spastic ataxia 5
Spastic tetraplegia and axial hypotonia, progressive
Spasticity-ataxia-gait anomalies syndrome
Spinal muscular atrophy, infantile, James type
Spinocerebellar ataxia type 28
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Spondyloepimetaphyseal dysplasia, Bieganski type
Stickler syndrome
Streptomycin response
Sudden cardiac failure, alcohol-induced
Sudden cardiac failure, infantile
Thrombocytopenia 4
Tobramycin response
Type 2 diabetes mellitus
Unspecified inborn mitochondrial disorder
Usher syndrome
Usher syndrome type 1
Usher syndrome type 1B
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1E
Usher syndrome type 1F
Usher syndrome type 1G
Usher syndrome type 1H
Usher syndrome type 2
Usher syndrome type 3
Usher syndrome type 3A
Usher syndrome type 3B
Very long chain acyl-CoA dehydrogenase deficiency
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg syndrome type 4A
Waardenburg syndrome type 4B
Waardenburg syndrome type 4C
Wilson disease
Wolfram syndrome 1
Wolfram syndrome 2
Wolfram-like syndrome
X-linked erythropoietic protoporphyria
X-linked recessive mitochondrial myopathy
X-linked sideroblastic anemia 1
X-linked sideroblastic anemia with ataxia
AARS2 (6p21.1);
ABAT (16p13.2);
ABCB7 (Xq13.3);
ACACA (17q12);
ACAD9 (3q21.3)
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Molecular Genetics - Sequence analysis of the entire coding region: SNP Detection
Ordering Information
Specimen Source:
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Amniocytes
Amniotic fluid
Bone marrow
Buccal swab
Buffy coat
Cell culture
Chorionic villi
Cord blood
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Saliva
White blood cell prep
Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Physician
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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After obtaining the patient specimen and patient information, please ship us the specimen and accompanying information to 1920 NE Stucki Ave, Suite 150, Hillsboro, OR 97006
After obtaining the patient specimen and patient information, please ship us the specimen and accompanying information to 1920 NE Stucki Ave, Suite 150, Hillsboro, OR 97006
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Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Pre-test genetic counseling required:
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Post-test genetic counseling required:
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Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 526
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 339
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
Sequence analysis of the entire coding region
SNP Detection
Illumina HiSeq™2000 system
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Will the lab re-contact the ordering physician if variant interpretation changes?
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Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
Is research allowed on the sample after clinical testing is complete?
Technical Information
Test Procedure:
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NGS sequencing and variant analysis
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Mitochondrial genome were amplified by PCR and proceeded to NGS library preparation and sequencing by Illumina NGS Sequencing platforms.
Availability:
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Tests performed
Analytical Validity:
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More than 40 samples with known results were retested with the panel. The results are 100% repeatable.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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VUS:
Software used to interpret novel variations
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Laboratory's policy on reporting novel variations
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Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
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