Genomics Precision Diagnostic > Metabolic Precision Panel > Organic Acidemias/Acidurias Precision Panel

Organic Acidemias/Acidurias Precision Panel

Organic Acidemias/Acidurias (Organic Acid Disorders, OADs) are an important group of inherited metabolic disorders that share a defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation.

Overview

Organic Acidemias/Acidurias (Organic Acid Disorders, OADs) are an important group of inherited metabolic disorders that share a defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. These enzymatic defects lead to an accumulation of organic acids in tissues and their subsequent excretion in urine. As patients age, the natural progression of organic acidemias lead to intellectual difficulties, increased risk for neurologic complications such as stroke-like episodes and cardiac complications among others. All organic acidurias are inherited in an autosomal recessive pattern.
The Igenomix Organic Acidemias/Acidurias Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of hyperammonemia and high anion gap metabolic acidosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Organic Acidemias/Acidurias Precision Panel is indicated for those patients with a clinical suspicion or diagnosis an organic acidemia with or without the following manifestations:
- Developmental delay
- Mental retardation
- Seizures
- Lethargy
- Coma
- Hypotonia
- Vomiting
- Failure to thrive
- Hepatomegaly
- Respiratory distress
- Cardiac dysfunction

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of nutritional therapy, correction of fluid and electrolyte imbalances, adequate cerebral perfusion.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCD4*	Methylmalonic Aciduria And Homocystinuria	AR	100	8 of 8
*ACAD8*	Isobutyryl-CoA Dehydrogenase Deficiency	AR	100	35 of 35
*ACAD9*	Acyl-CoA Dehydrogenase Family	AR	100	62 of 62
*ACADL*	Long Chain Acyl-CoA Dehydrogenase Deficiency	–	100	1 of 1
*ACADM*	Medium Chain Acyl-CoA Dehydrogenase Deficiency	AR	99.98	181 of 181
*ACADS*	Shot-Chain Acyl-coa Dehydrogenase Deficiency	AR	100	84 of 84
*ACADSB*	2-Methylbutyryl-CoA Dehydrogenase Deficiency	AR	100	21 of 21
*ACADVL*	Very Long Chain Acyl-CoA Dehydrogenase Deficiency	AR	100	329 of 329
*ACAT1*	Alpha-Methylacetoacetic Aciduria, Beta-Ketothiolase Deficiency	AR	100	116 of 116
*ACSF3*	Combined Malonic And Methylmalonic Aciduria	AR	100	27 of 27
*ADK*	Hypermethioninemia Due To Adenosine Kinase Deficiency	AR	100	15 of 16
*AGK*	Congenital Cataract- Hypertrophic Cardiomyopathy- Mitochondrial Myopathy Syndrome	AR	99.98	33 of 33
*AGXT*	Primary Hyperoxaluria Type 1	AR	99.99	210 of 211
*AHCY*	Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	AR	100	11 of 11
*ALDH4A1*	Hyperprolinemia Type II	AR	100	7 of 7
*ALDH5A1*	Succinic Semialdehyde Dehydrogenase Deficiency	AR	95.41	65 of 69
*ALDOB*	Hereditary Fructose Intolerance	AR	100	61 of 65
*AMN*	Imerslund-Grasbeck Syndrome	AR	94.02	31 of 32
*AMT*	Glycine Encephalopathy	AR	99.98	94 of 96
*ARG1*	Argininemia	AR	100	66 of 68
*ASL*	Argininosuccinic Aciduria	AR	100	170 of 170
*ASPA*	Canavan Disease	AR	99.56	93 of 94
*ASS1*	Classic Citrullinemia	AR	100	150 of 153
*ATAD3A*	Harel-Yoon Syndrome, Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome	AD,AR	90.98	6 of 8
*ATP5F1D*	Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 5	AR	98.19	NA of NA
*ATP5F1E*	Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 3	AR	100	NA of NA
*ATP6*	Leber Optic Atrophy, Neuropathy, Ataxia, And Retinitis Pigmentosa, Mitochondrial DNA-Associated Leigh Syndrome, Narp Syndrome	MI	na	na
*ATP7B*	Wilson Disease	AR	99.97	989 of 1000
*ATPAF2*	ATPase Deficiency Nuclear-Encoded	AR	100	2 of 2
*AUH*	3-Methylglutaconic Aciduria Type I	AR	99.99	11 of 11
*BCKDHA*	Maple Syrup Urine Disease	AR	98.41	96 of 97
*BCKDHB*	Maple Syrup Urine Disease	AR	99.99	122 of 123
*BCS1L*	Bjornstad Syndrome, Gracile Syndrome, Leigh Syndrome, Mitochondrial Complex III Deficiency	AR,MI	99.96	40 of 42
*BTD*	Biotinidase Deficiency Multiple Carboxylase Deficiency	AR	100	261 of 262
*CAMKMT*	2p21 Microdeletion Syndrome	–	99.99	NA of NA
*CASR*	Neonatal Severe Primary Hyperparathyroidism, Familial Hypocalciuric Hypercalcemia	AD,AR	100	445 of 446
*CBS*	Classic Homocystinuria	AR	99.98	192 of 194
*CCN6*	Progressive Pseudorheumatoid Arthropathy Of Childhood	AR	100	NA of NA
*CD320*	Methylmalonic Aciduria Due To Transcobalamin Receptor Defect	AR	89	2 of 2
*CLCN5*	Dent Disease, X-linked Recessive Hypophosphatemic Rickets, Nephrolithiasis With Renal Failure , Low Molecular Weight Proteinuria With Hypercalciuria And Nephrocalcinosis	X,XR,G	99.39	NA of NA
*CLPB*	3-Methylglutaconic Aciduria Type 7	AR	96	26 of 26
*COA3*	Mitochondrial Complex IV Deficiency	AR,MI	100	2 of 2
*COA8*	Mitochondrial Complex IV Deficiency, Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	AR,MI	86.26	4 of 5
*COX10*	Leigh Syndrome, Mitochondrial Complex IV Deficiency	AR,MI	100	13 of 13
*COX14*	Mitochondrial Complex IV Deficiency	AR,MI	100	1 of 1
*COX20*	Mitochondrial Complex IV Deficiency	AR,MI	99.88	5 of 5
*COX6B1*	Mitochondrial Complex IV Deficiency	AR,MI	100	3 of 3
*COX8A*	Mitochondrial Complex IV Deficiency	AR,MI	100	1 of 1
*CPS1*	Carbamoyl Phosphate Synthetase I Deficiency	AR	100	274 of 278
*CPT2*	Infantile Carnitine Palmitoyltransferase II	AD,AR	99.99	116 of 116
*CTH*	Cystathioninuria	AR	100	8 of 8
*CTNS*	Cystinosis Adult Nonnephropathic, Nephropathic Infantile Cystinosis	AR	100	148 of 153
*CUBN*	Megaloblastic Anemia	AR	100	53 of 54
*CYP27B1*	Hypocalcemic Vitamin D-Dependent Rickets	AR	98.45	80 of 80
*CYP2R1*	Hypocalcemic Vitamin D-Dependent Rickets	AR	99.22	6 of 6
*D2HGDH*	D-2-Hydroxyglutaric Aciduria	AR	100	42 of 42
*DBT*	Maple Syrup Urine Disease	AR	100	73 of 75
*DDB2*	Xeroderma Pigmentosum Complementation Group E	AR	100	17 of 17
*DGUOK*	Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions	AR	100	68 of 70
*DHTKD1*	2-Aminoadipic 2-Oxoadipic Aciduria, Charcot-Marie- Tooth Disease, Axonal Type 2q	AD,AR	99.94	25 of 25
*DLD*	Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Dehydrogenase E3 Deficiency	AR	100	26 of 26
*DMGDH*	Dimethylglycine Dehydrogenase Deficiency	AR	99.77	2 of 2
*DNAJC19*	3-Methylglutaconic Aciduria Type V, Dilated Cardiomyopathy With Ataxia	AR	100	6 of 6
*EHHADH*	Fanconi Renotubular Syndrome	AD	99.96	1 of 1
*ERCC2*	Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group D	AR	100	102 of 102
*ERCC3*	Photosensitive Trichothiodystrophy, Xeroderma Pigmentosum Complementation Group B	AR	99.98	24 of 24
*ERCC4*	Fanconi Anemia Complementation Group Q, Xeroderma Pigmentosum Complementation Group F, Cockayne Syndrome Type 1	AR	99.68	69 of 72
*ERCC5*	Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum, Complementation Group G	AR	99.94	58 of 58
*ETFA*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	92.33	32 of 32
*ETFB*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	100	21 of 21
*ETFDH*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	100	221 of 222
*ETHE1*	Ethylmalonic Encephalopathy	AR	100	32 of 33
*FAH*	Tyrosinemia Type 1	AR	100	107 of 108
*FARS2*	Combined Oxidative Phosphorylation Deficiency	AR	99.98	23 of 23
FH	Fumarase Deficiency	AD,AR	100	229 of 232
*FLAD1*	Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	AR	97.13	13 of 14
*FTCD*	Formiminotransferase Deficiency	AR	99.83	17 of 17
*GALE*	Galactose Epimerase Deficiency	AR	100	29 of 29
*GALT*	Classic Galactosemia	AR	100	350 of 350
*GATM*	Cerebral Creatine Deficiency Syndrome, Fanconi Renotubular Syndrome	AD,AR	99.98	21 of 21
*GCDH*	Glutaric Acidemia, Glutaryl-CoA Dehydrogenase Deficiency	AR	88.74	254 of 254
*GCLC*	Gamma-Glutamyl– Cysteine Synthetase Deficiency	AR	99.97	7 of 7
*GCSH*	Glycine Encephalopathy	AR	93.52	1 of 1
*GEMIN4*	Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	AR	99	2 of 2
*GIF*	Autosomal Recessive Intrinsic Factor Deficiency	–	100	NA of NA
*GLDC*	Glycine Encephalopathy	AR	98.69	359 of 367
*GLYCTK*	D-glyceric Aciduria	AR	100	6 of 6
*GNMT*	Glycine N-Methyltransferase Deficiency	AR	100	5 of 5
*GPHN*	Hyperekplexia, Hereditary , Molybdenum Cofactor Deficiency, Complementation Group C	AD,AR	99.2	6 of 6
*GRHPR*	Primary Hyperoxaluria Type 2	AR	88	51 of 51
*GSS*	Glutathione Synthetase Deficiency	AR	100	36 of 38
*GUCY2D*	Central Areolar Choroidal Dystrophy, Cone-Rod Dystrophy, Leber Congenital Amaurosis Type I, Congenital Stationary Night Blindness	AD,AR	99.98	248 of 248
*HADH*	3-Hydroxyacyl-CoA Dehydrogenase Deficiency	AR	96.71	26 of 27
*HAL*	Histidinemia	–	100	9 of 9
*HCFC1*	Methylmalonic Acidemia And Homocysteinemia	X,XR,G	99.81	NA of NA
*HGD*	Alkaptonuria	AR	100	158 of 159
*HIBCH*	3-Hydroxyisobutyryl-CoA Hydrolase Deficiency	AR	96,47	27 of 27
*HLCS*	Holocarboxylase Synthetase Deficiency	AR	100	47 of 47
*HMGCL*	3-Hydroxy-3-Methylglutaric Aciduria	AR	100	54 of 54
*HMGCS2*	3-Hydroxy-3-Methylglutaryl-CoA Synthase-2 Deficiency	AR	100	37 of 37
*HNF4A*	Fanconi Renotubular Syndrome With Maturity- Onset Diabetes Of The Young, Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease	AD	100	172 of 174
*HOGA1*	Primary Hyperoxaluria Type 3	AR	100	42 of 42
*HPD*	Hawkinsinuria, Tyrosinemia Type III	AD,AR	100	10 of 10
*HTRA2*	3-Methylglutaconic Aciduria Type VIII, Young-Onset Parkinson Disease	AD,AR	99.81	18 of 18
*IDH2*	D-2-Hydroxyglutaric Aciduria, Maffucci Syndrome, Ollier Disease	AD	99.99	4 of 4
*IVD*	Isovaleric Acidemia	AR	100	105 of 105
*KIF1B*	Charcot-Marie-Tooth Disease Axonal Type 2a1	AD	99.89	17 of 17
*KYNU*	Hydroxykynureninuria, Vertebral, Cardiac, Renal, And Limb Defects Syndrome	AR	99.98	7 of 7
*L2HGDH*	L-2-Hydroxyglutaric Aciduria	AR	100	72 of 73
*LDHD*	Lactic Aciduria Due To D-Lactic Acid	AR	100	3 of 3
*LMBRD1*	Methylmalonic Acidemia With Homocystinuria Type Cblf	AR	99.88	8 of 8
*MARS1*	Charcot-Marie-Tooth Disease Axonal Type 2u	AD,AR	99.98	19 of 19
*MCCC1*	3-Methylcrotonyl-CoA Carboxylase Deficiency	AR	100	110 of 111
*MCCC2*	3-Methylcrotonyl-CoA Carboxylase Deficiency	AR	99.98	120 of 120
*MCEE*	Methylmalonyl-CoA Epimerase Deficiency	AR	100	5 of 6
*MICOS13*	Combined Oxidative Phosphorylation Deficiency, 3-Methylglutaconic Aciduria Type 3	AR	na	na
*MLYCD*	Malonyl-CoA Decarboxylase Deficiency	AR	93.84	32 of 40
*MMAA*	Methylmalonic Aciduria Cbla Type	AR	99.98	77 of 77
*MMAB*	Methylmalonic Aciduria Cblb Type	AR	99.52	43 of 43
*MMACHC*	Methylmalonic Acidemia With Homocystinuria Type Cblc	AR	99.97	105 of 105
*MMADHC*	Methylmalonic Acidemia With Homocystinuria Type Cbld	AR	99.63	20 of 20
*MMUT*	Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency	AR	99.97	NA of NA
*MOCS1*	Molybdenum Cofactor Deficiency Complementation Group A	AR	100	36 of 37
*MOCS2*	Molybdenum Cofactor Deficiency Complementation Group B	AR	100	32 of 32
*MPC1*	Mitochondrial Pyruvate Carrier Deficiency	AR	100	2 of 2
*MRPS2*	Combined Oxidative Phosphorylation Deficieny	AR	100	3 of 3
*MTHFR*	Homocystinuria Due To Deficiency Of N(5,10)-Methylene Tetrahydrofolate Reductase Activity	AD,AR	100	122 of 122
*MTR*	Methylcobalamin Deficiency	AR	99.94	42 of 45
*MTRR*	Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism CBLE Complementation Type	AR	100	39 of 40
*MVK*	Hyper-IgD Syndrome, Mevalonic Aciduria	AD,AR	100	180 of 181
*NADK2*	2,4-Dienoyl-CoA Reductase Deficiency, Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	AR	95.37	3 of 3
*NAGA*	Kanzaki Disease, Schindler Disease Type I, Alpha-n- Acetylgalactosaminidase Deficiency Type 1 , Alpha-n –Acetylgalactosaminidase Deficiency Type 2, Alpha-n –Acetylgalactosaminidase Deficiency Type 3	AR	100	12 of 12
*ND1*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Isolated Complex I Deficiency, Mitochondrial DNA-Associated Leigh Syndrome	MI	na	na
*ND2*	Leber Optic Atrophy, Isolated Complex I Deficiency, Leber Hereditary Optic Neuropathy , Mitochondrial DNA Associated Leigh Syndrome	MI	85.56	NA of NA
*ND3*	Isolated Complex I Deficiency, Mitochondrial DNA-Associated Leigh Syndrome	–	99.99	NA of NA
*ND4*	Leber Optic Atrophy, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome	MI	na	na
*ND5*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes , Mitochondrial DNA-Associated Leigh Syndrome	MI	99.89	NA of NA
*ND6*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Mitochondrial DNA-Associated Leigh Syndrome	MI	100	NA of NA
*NDUFAF6*	Fanconi Renotubular Syndrome, Mitochondrial Complex I Deficiency Nuclear Type 17 , Leigh Syndrome With Leukodystrophy	AR	99.4	12 of 13
*NEU1*	Neuraminidase Deficiency, Congenital Sialidosis Type 2, Sialidosis Type 1	AR	100	68 of 68
*NGLY1*	Congenital Disorder Of Glycosylation, Type IV, Alacrimia- Choreoathetosis-Liver Dysfunction Syndrome	AR	99.8	28 of 28
*OAT*	Ornithine Aminotransferase Deficiency, Gyrate Atrophy Of Choroid And Retina	AR	100	72 of 73
*OCRL*	Dent Disease, Lowe Oculocerebrorenal Syndrome	X,XR,G	100	NA of NA
*OGDH*	Alpha-Ketoglutarate Dehydrogenase Deficiency, Oxoglutaric Aciduria	AR	100	1 of 1
*OPA3*	3-Methylglutaconic Aciduria Type III, Autosomal Dominant Optic Atrophy And Cataract	AD,AR	100	18 of 18
*OPLAH*	5-Oxoprolinase Deficiency	AD,AR	99.98	29 of 30
*OTC*	Ornithine Transcarbamylase Deficiency	X,XR,G	99.97	NA of NA
*OXCT1*	Succinyl CoA-3-Oxoacid CoA Transferase Deficiency ,	AR	100	33 of 33
*PCCA*	Propionic Acidemia	AR	100	137 of 137
*PCCB*	Propionic Acidemia	AR	99.95	136 of 138
*PEPD*	Prolidase Deficiency	AR	95	34 of 34
*PET100*	Mitochondrial Complex IV Deficiency, Leigh Syndrome With Leukodystrophy	AR,MI	98	2 of 2
*PEX1*	Peroxisome Biogenesis Disorder, Zellweger Syndrome, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	97.02	126 of 134
*PEX5*	Neonatal Adrenoleukodystrophy, Cerebrohepatorenal Syndrome, Infantile Refsum Disease, Zellweger Syndrome	AR	100	12 of 12
*PLOD2*	Bruck Syndrome	AR	99.97	29 of 29
*POLG*	Mitochondrial Dna Depletion Syndrome, Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis, Alpers- Huttenlocher Syndrome	AD,AR	99.92	325 of 326
*PPM1B*	2p21 Microdeletion Syndrome	–	99.61	1 of 1
*PRDX1*	Methylmalonic Aciduria And Homocystinuria Cblc Type	AR	100	3 of 3
*PREPL*	Congenital Myasthenic Syndrome, 2p21 Microdeletion Syndrome, Hypotonia Cystinuria Syndrome	AR	99.92	7 of 12
*PRODH*	Hyperprolinemia Type 1	AD,AR	98.57	5 of 5
*RET*	Multiple Endocrine Neoplasia Type IIa, Multiple Endocrine Neoplasia Type IIb, Haddad Syndrome, Bilateral Renal Agenesis	AD	100	453 of 454
*RRM2B*	Mitochondrial DNA Depletion Syndrome 8a (Encephalomyopathic Type Withrenal Tubulopathy), Kearns-Sayre Syndrome	AD,AR	92.38	46 of 46
*SARDH*	Sarcosinemia		98.61	7 of 7
*SCO1*	Mitochondrial Complex IV Deficiency	AR,MI	100	6 of 6
*SERAC1*	3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-like Syndrome	AR	99.93	53 of 53
*SLC19A2*	Thiamine-Responsive Megaloblastic Anemia Syndrome	AR	99.99	67 of 68
*SLC1A1*	Dicarboxylicamino Aciduria	AR	100	7 of 7
*SLC25A1*	Combined D-2- And L-2- Hydroxyglutaric Aciduria	AR	90	23 of 25
*SLC25A15*	Hyperornithinemia -Hyperammonemia- Homocitrullinuria Syndrome	AR	100	41 of 41
*SLC25A19*	Thiamine Metabolism Dysfunction Syndrome (Bilateral Striatal Degenerationand Progressive Polyneuropathy Type)	AR	97.13	10 of 10
*SLC25A20*	Carnitine-Acylcarnitine Translocase Deficiency	AR	100	39 of 39
*SLC25A21*	Mitochondrial DNA Depletion Syndrome	AR	99.95	1 of 1
*SLC25A4*	Mitochondrial DNA Depletion Syndrome (Cardiomyopathic Type)	AD,AR	99.84	16 of 16
*SLC26A1*	Calcium Oxalate Nephrolithiasis	AR	99.94	4 of 4
*SLC2A2*	Fanconi-Bickel Syndrome	AD,AR	100	75 of 79
*SLC34A1*	Fanconi Renotubular Syndrome, Hypophosphatemic Nephrolithiasis/Osteoporosis	AD,AR	100	39 of 39
*SLC35A1*	Congenital Disorder Of Glycosylation Type IIf	AR	100	6 of 6
*SLC36A2*	Glycinuria With Or Without Oxalate Urolithiasis, Iminoglycinuria	AD,AR	100	1 of 1
*SLC3A1*	Hypotonia-Cystinuria Syndrome	AD,AR	100	202 of 202
*SLC52A1*	Riboflavin Deficiency	AD	99.91	2 of 2
*SLC52A2*	Brown-Vialetto-Van Laere Syndrome, Autosomal Recessive Spinocerebellar Ataxia-blindness-deafness Syndrome	AR	100	31 of 32
*SLC6A18*	Iminoglycinuria	–	100	NA of NA
*SLC6A19*	Glycinuria With Or Without Oxalate Urolithiasis, Hartnup Disorder, Iminoglycinuria	AD,AR	100	25 of 25
*SLC6A20*	Glycinuria With Or Without Oxalate Urolithiasis, Iminoglycinuria	AD,AR	100	1 of 1
*SLC7A7*	Lysinuric Protein Intolerance	AR	100	61 of 61
*SLC7A9*	Cystinuria	AD,AR	100	144 of 144
*SPINK5*	Netherton Syndrome	AR	99.98	84 of 84
*SUCLA2*	Mitochondrial DNA Depletion Syndrome (Encephalomyopathic With Or Without Methylmalonic Aciduria)	AR	100	27 of 27
*SUCLG1*	Mitochondrial Dna Depletion Syndrome (Encephalomyopathic Type With Methylmalonic Aciduria)	AR	100	34 of 34
*SUGCT*	Glutaric Aciduria III	AR	99.85	7 of 7
*TACO1*	Mitochondrial Complex IV Deficiency, Leigh Syndrome With Leukodystrophy	AR,MI	100	3 of 3
*TAT*	Tyrosine Transaminase Deficiency, Tyrosinemia Type 2	AR	100	34 of 34
*TAZ*	Barth Syndrome	X,XR,G	100	NA of NA
*TCN2*	Transcobalamin Deficiency	AR	100	25 of 27
*TIMM50*	3-Methylglutaconic Aciduria Type IX	AR	91	7 of 7
*TK2*	Mitochondrial DNA Depletion Syndrome Myopathic Form, Progressive With Mitochondrial Dna Deletions	AR	97.08	64 of 65
*TMEM70*	Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 2	AR	100	22 of 24
*TNFRSF11A*	Autosomal Recessive Osteopetrosis , Paget Disease Of Bone, Polyostotic Osteolytic Dysplasia	AD,AR	96.37	17 of 22
*TNFRSF11B*	Familial Calcium Pyrophosphate Deposition, Juvenile Paget Disease	AR	99.98	16 of 16
*TRNK*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-lik Episodes, Myoclonic Epilepsy Associated With Ragged- Red Fibers, Mitochondrial DNA-Associated Leigh Syndrome	MI	na	na
*TRNL1*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-lik Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers, Kearns-Sayre Syndrome, Mitochondrial DNA-Associated Leigh Syndrome	MI	na	na
*TRNN*	Mitochondrial Complex IV Deficiency, Mitochondrial DNA-Related Progressive External Ophthalmoplegia	AR,MI	na	na
*TRNS1*	Deafness, Aminoglycoside- Induced, Mitochondrial Complex IV Deficiency, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes	AR,MI	na	na
*TRNT1*	Retinitis Pigmentosa And Erythrocytic Microcytosis, Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers,and Developmental Delay	AR	99.47	22 of 27
*TRNV*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Mitochondrial DNA- Associated Leigh Syndrome	MI	na	na
*TRNW*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-like Episodes, Mitochondrial Myopathy, Episodic, With Optic Atrophy And Reversible Leukoencephalopathy, Mitochondrial DNA- Associated Leigh Syndrome	AR,MI	na	na
*UMPS*	Hereditary Orotic Aciduria	AR	100	11 of 11
*UROC1*	Urocanic Aciduria	AR	100	5 of 5
*XPA*	Xeroderma Pigmentosum Complementation Group A	AR	99.91	49 of 49
*XPC*	Xeroderma Pigmentosum Complementation Group C	AR	99.83	86 of 87

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Organic Acidemias/Acidurias Precision Panel

Organic Acidemias/Acidurias (Organic Acid Disorders, OADs) are an important group of inherited metabolic disorders that share a defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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