• Complex 1 Deficency - NDUFA1 Sequencing

• Noonan Syndrome - KRAS Sequencing

• Noonan Syndrome - SOS1 Sequencing

• Noonan Syndrome - RAF1 Sequencing

• Complex I Deficiency - C6ORF66 Sequencing

• TOMM20 Sequencing

• Wolman Disease LIPA Sequencing

• Mitochondrial DNA (mtDNA) Content (qPCR) Analysis

• Mucopolysaccharidosis IVA - GALNS Sequencing

• Krabbe Deficiency - GALC Sequencing

• Maple Syrup Urine Disease Type 3 - DLD Sequencing

• Arylsulfatase A Deficiency - ARSA Sequencing

• Mucopolysaccharidosis I (MPS1) - IDUA Sequencing

• Mucopolysaccharidosis Type II (MPS II) - IDS Sequencing

• Myopathic Mitochondrial DNA Depletion Syndrome - RRM2B Sequencing

• Arginase Deficiency - ARG1 Sequencing

• Coenzyme Q10 Deficiency - PDSS1 Sequencing

• L-Arginine:Glycine Amidinotransferase Deficiency - GATM Sequencing

• Coenzyme Q10 Deficiency - COQ2 Sequencing

• Coenzyme Q10 Deficiency - PDSS2 Sequencing

• Fatal Infantile Lactic Acidosis with mtDNA Depletion - SUCLG1 Sequencing

• Optic Atrophy Type I - OPA1 Sequencing

• Friedreich Ataxia - FXN Sequencing

• Cystic Fibrosis - CFTR Sequencing

• Argininosuccinic Aciduria - ASL Sequencing

• Argininosuccinic Aciduria - ASL Sequencing

• Mitochondrial/Metabolic Oligonucleotide Array CGH Analysis/MitoMet oligo aCGH

Last modified: 7/25/08