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ABCB4/MDR3 Sequencing ABCB11 Sequencing ACADL Sequencing ACADVL Sequencing Adenine Nucleotide Translocase 1
(ANT1/ SLC25A4) Sequencing Aldolase B Deficiency Alpers Syndrome ATPase Subunits ATP8B1 Sequencing Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO) Autosomal Dominant Progressive External Ophthalmoplegia
(ad-PEO) with mtDNA Deletions-4 (PEOA4) BCS1L Sequencing Benign Recurrent Intrahepatic Cholestasis 1 (BRIC1) Benign Recurrent Intrahepatic Cholestasis 2 (BRIC2) Bile Salt Excretory Pump Disease (BSEP) Biotinidase Byler Disease
CACT Deficiency Carbamoyl Phosphate
Synthetase I Deficiency - CPS1 Sequencing Carnitine-Acylcarnitine Translocase Deficiency Carnitine Palmitoyltransferase 1 Deficiency - CPT1A Sequencing Carnitine Palmitoyltransferase 1 Deficiency - CPT1B Sequencing Carnitine Palmitoyltransferase II Deficiency
- CPT2 Sequencing Carnitine Transporter Deficiency Carotid Body Tumors and Multiple Extraadrenal
Pheochromocytomas
Citrullinemia Type II (CTLN2) Coenzyme Q10 Deficiency
Complex I Subunits Complex I Deficiency Complex III Deficiency (BCS1L Related) Complex IV (COX) Deficiency COX10 Sequencing Creatine Transporter (CRTR) Deficiency - Cytochrome b Subunit Cytochrome c Oxidase (COX) Subunits
Deafness-Dystonia-Optic
Neuropathy Syndrome (DDP1) Deoxyguanosine Kinase (DGUOK) Sequencing Dihydrolipoyl dehydrogenase
(E3) Deficiency - DLD Sequencing
Electron Transport Chain Enzymes Encephalomyopathic Mitochondrial DNA Depletion
Syndrome
FAH Sequencing Familial Nonchromaffin Paragangliomas Fatal Infantile Lactic
Acidosis with mtDNA Depletion - SUCLG1 Sequencing GATM Sequencing Glycogen Storage Disease Type 1A (GSD1A) - G6PC Sequencing Glycogen storage disease type 0 (GSD0) - GYS2 Sequencing Guanidinoacetate Methyltransferase (GAMT)
- GAMT Sequencing
Hepatocerebral mtDNA Depletion Panel - POLG1,
DGUOK & MPV17 Sequencing Hereditary Fructose Intolerance - ALDOB Sequencing Holocarboxylase Deficiency - HLCS Sequencing I Infantile Hepatic Mitochondrial DNA Depletion - MPV17 Sequencing K Kearns-Sayre Syndrome
L-Arginine:Glycine Amidinotransferase Deficiency
- GATM Sequencing Leber's Optic Neuropathy (LON) Point Mutations Leigh Syndrome Liver Glycogen Synthase Deficiency Long Chain Acyl-CoA Dehydrogenase Deficiency
(LCAD) Very Long Chain Acyl-CoA Dehydrogenase Deficiency
(VLCAD) Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
(LCHAD) M Maple Syrup Urine Disease Type 3 - DLD Sequencing Maternally Inherited Sensorineural Hearing Loss
(MISNHL) MDR3 Disease Medium Chain acyl-CoA Dehydrogenase Deficiency
(MCAD) Methylmalonic Aciduria and Homocystinuria, cblC Type Mitochondrial DNA (mtDNA) Content (qPCR) Analysis Mitochondrial DNA Deletion Syndrome Mitochondrial DNA Depletion and Multiple Deletions
- POLG1, TK2, SUCLA2 & DGUOK Sequencing Mitochondrial DNA Screening Panel (Point Mutations and Deletions) >> Mitochondrial DNA Analysis Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) MitoMetSM Mitochondrial/Metabolic oligonucleotide array CGH analysis Mitochondrial Phosphate Carrier Deficiency - SLC25A3 (PHC) Sequencing Mitochondrial Respiratory Chain Complex II Deficiency MMACHC Sequencing MNGIE Syndrome Mohr-Tranebjaerg syndrome MPV17 Sequencing Myoclonic Epilepsy Associated with Ragged-Red
Fibers (MERRF) Myopathic Mitochondrial DNA Depletion Syndrome
N-Acetylglutamate Synthase Deficiency - NAGS Sequencing NADH-ubiquinone oxidoreductase Fe-S Protein 4 Sequence Analysis - NDUFS4 Sequencing NADH-ubiquinone oxidoreductase 1 alpha assembly factor 2 Sequence Analysis - NDUFAF2/NDUFA12L Sequencing Neuropathy, Ataxia, and Retinitis Pigmentosa
(NARP) and Mitochondrial DNA Associated Leigh Syndrome O Optic Atrophy Type I - OPA1 Sequencing Ornithine Transcarbamylase (OTC) Deficiency P PDSS1 Sequencing PDSS2 Sequencing Pearson Syndrome Phenylketonuria (PKU) Pheochromocytoma (PHEO) and Paraganglioma (PGL)-Associated
Syndromes Panel POLG1 Related Disorders - POLG1 Sequencing POLG2 Sequencing Progressive Familial Intrahepatic Cholestasis
1 (PFIC1) Progressive Familial Intrahepatic Cholestasis
2 (PFIC2) Progressive Familial Intrahepatic Cholestasis
3 (PFIC3) Pyruvate Dehydrogenase Deficiency - PDHA1
Sequencing RRM2B Sequencing SCO1 Sequencing SCO2 Sequencing SLC25A3 (PHC) Sequencing Succinate
Dehydrogenase Complex Subunit B (SDHB) Sequencing Succinate Dehydrogenase Complex Subunit C (SDHC)
Sequencing Succinate Dehydrogenase Complex Subunit D (SDHD)
Sequencing SURF1 Sequencing Systemic
Carnitine Deficiency - SLC22A5 Sequencing
TIMM8A Sequencing Thymidine Kinase (TK2) Sequencing Thymidine Phosphorylase (TP), TYMP Sequencing TOMM20 Sequencing TWINKLE/PEO1 Sequencing Tyrosinemia Type 1
Whole Genome
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