• COL2A1 Related Disorders - COL2A1 Sequencing
• Warfarin Sensitivity Genotyping
• Cytochrome P450 2C19 (CYP2C19) Genotyping
• Cytochrome P450 2D6 (CYP2D6) Genotyping
• Oculocutaneous Albinism Type 2 - OCA2 Sequencing and Targeted Deletion Analysis
• Obesity, Monogenic Nonsyndromic:
  • LEP Sequencing
  • LEPR Sequencing
  • PCSK1 Sequencing
  • POMC Sequencing
• Sulfocysteine Determination, Urinary
• Personalized Medical Genomic Profile (PMGP)
• TSFM-Related Combined Oxidative Phosphorylation Deficiency - TSFM Sequencing
• Mitochondrial Myopathy and Sideroblastic Anemia - PUS1 Sequencing
• Complex IV (COX) Deficiency - FASTKD2 Sequencing
• Rett Syndrome, Congenital Variant - FOXG1 Sequencing
• MCCC1-Related 3-methylcrontonyl-CoA-Carboxylase Deficiency - MCCC1 Sequencing
• MCCC2-Related 3-methylcrontonyl-CoA-Carboxylase Deficiency - MCCC2 Sequencing
• Von Hippel-Lindau Syndrome - VHL Sequencing and Deletion/Duplication Analyses
• Colorectal Cancer Array-CGH Analysis for Genomic Rearrangements
• Coronary Heart Disease Risk Factor (9p21 rs10757278)
• APC - Associated Polyposis Conditions - Comprehensive (Sequencing and Deletion/Duplication Analysis)
• APC - Associated Polyposis Conditions - Deletion/Duplication by MPLA
• HNPCC MLH1 - Comprehensive (Sequencing & Deletion/Duplication)
• HNPCC MLH1 ONLY - Deletion/Duplication by MLPA
• HNPCC MSH2 - Comprehensive (Sequencing & Deletion/Duplication)
• HNPCC MSH2 ONLY - Deletion/Duplication by MLPA
• HNPCC MSH6 - Comprehensive (Sequencing & Deletion/Duplication)
• HNPCC MSH6 ONLY - Deletion/Duplication by MLPA
• HNPCC -Comprehensive (Sequencing & Deletion/Duplication)
• FMR1-Related Disorders - FMR1 Sequencing
• Dyskeratosis Congenita - TINF2 Sequencing
• Oculocutaneous Albinism Type 1 - TYR Sequencing
• Oculocutaneous Albinism Type 3 - TYRP1 Sequencing
• Oculocutaneous Albinism Type 4 - SLC45A2 Sequencing
• Barth Syndrome - TAZ Sequencing
• Complex IV (COX) Deficiency - COX6B1 Sequencing
• Familial Hypercholesterolemia - LDLR Deletion/Duplication Analysis
• Complex IV (COX) Deficiency - COX15 Sequencing
• Trifunctional Protein Deficiency - HADHB Sequencing
• Ehlers-Danlos Syndrome - PLOD1 Sequencing
• ABCA4-Related Disorders - ABCA4 Sequencing
• PMS2-Related Hereditary Non-polyposis Colorectal Cancer (HNPCC) - PMS2 Sequencing
• Autosomal Dominant Optic Atrophy 3 - OPA3 Sequencing
• Chromosomal Microarray Analysis (CMA) - SNP Array
• Nuclear Complex 1 Panel NDUFS3Sequencing
• Nuclear Complex 1 Panel NDUFS4Sequencing
• Nuclear Complex 1 Panel NDUFS6Sequencing
• Nuclear Complex 1 Panel NDUFS7Sequencing
• Nuclear Complex 1 Panel NDUFA1Sequencing
• Nuclear Complex 1 Panel NDUFAF2Sequencing
• Nuclear Complex 1 Panel NDUFV1Sequencing
• Nuclear Complex 1 Panel C6ORF66 Sequencing
• Rickets-Alopecia Syndrome - VDR Sequencing
• Androgen Insensitivity Syndrome - AR Sequencing
• MMAA-Related Methylmalonic Aciduria - MMAA sequencing
• MMAB-Related Methylmalonic Aciduria - MMAB sequencing
• MUT-Related Methylmalonic Aciduria - MUT sequencing
• Male Specific Comprehensive Autism Panel
• Female Specific Comprehensive Autism Panel
• Biochemical 6-Plex

Last modified: 8/28/09