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Houston, Texas

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  3 - Methylcrotonyl-CoA Carboxylase Deficiency - MCCC1 Related
  3 - Methylcrotonyl-CoA Carboxylase Deficiency - MCCC2 Related
  3-Methylglutaconic Aciduria Type I

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A
  ABCA4 - Related Disorders
  Achondroplasia
  Acid Sphingomyelinase Deficiency
  Acute Recurrent Myoglobinuria - LPIN1 Related
  Acylcarnitine Analysis - Plasma
  Adenosine Deaminase Deficiency
  AKT1 Mutation Analysis - Tumor
  ALK Gene Rearrangement by FISH Analysis
  Amino Acid Analysis - Cerebrospinal Fluid
  Amino Acid Analysis - Plasma
  Amino Acid Analysis - Urine
  Amish Lethal Microcephaly
  Androgen Insensitivity Syndrome
  Angelman Syndrome
  APC - Associated Polyposis Conditions
  Arginase Deficiency
  Arginine: Glycine Amidinotransferase (GATM) Deficiency
  Argininosuccinate Lyase Deficiency
  ARX - Related Disorders
  Arylsulfatase A Deficiency [Metachromatic Leukodystrophy]
  Ashkenazic Genetic Disease Panel
  Ashkenazic Genetic Disease Screen (with Cystic Fibrosis)
  Ashkenazic Genetic Disease Screen (without Cystic Fibrosis)
  Aspartylglycosaminuria
  Autism Panel - Biochemistry 7-Plex
  Autoimmune Polyendocrinopathy 1
  Autosomal Dominant - PEO Panel (POLG, SLC25A4, & C10ORF2)

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B
  BCR/ABL1 - Qualitative Analysis
  BCR/ABL1 - Quantitative Analysis
  BCS1L - Related Disorders
  Biotinidase Deficiency
  Bloom Syndrome
  BRAF - Related Disorders
  BRAF Mutation Analysis - Tumor

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C
  C10ORF2 (TWINKLE) - Related Disorders
  Canavan Disease Ashkenazic Mutation Panel
  Cancer Chromosomal Microarray Analysis - 180K CGH Array
  Cancer Chromosomal Microarray Analysis - 180K CGH/SNP Array
  Cancer Chromosomal Microarray Analysis - BCM 400K CGH/SNP Array
  Cancer Gene Mutation Panel
  Carbamoyl Phosphate Synthetase Deficiency
  Cardiofaciocutaneous Syndrome - MAP2K1 Related
  Cardiofaciocutaneous Syndrome - MAP2K2 Related
  Carnitine Acylcarnitine Translocase (CACT) Deficiency
  Carnitine Biosynthesis Panel - Plasma
  Carnitine Biosynthesis Panel - Urine
  Carnitine Deficiency, Systemic
  Carnitine Determination - Plasma
  Carnitine Palmitoyltransferase IA Deficiency
  Carnitine Palmitoyltransferase II Deficiency
  CDH23 - Related Disorders
  CDKL5 - Related Disorders
  CFTR - 5T Variant Analysis
  CFTR - Related Disorders
  CFTR - Related Disorders Mutation Panel
  CFTR Sequence Analysis
  CHD7 - Related Disorders
  CHRNA7 - Related Disorders
  Chromosomal Microarray Analysis - Colorectal Cancer
  Chromosomal Microarray Analysis - Heme/Onc
  Chromosomal Microarray Analysis - HR
  Chromosomal Microarray Analysis - HR + SNP Screen (Comprehensive)
  Chromosomal Microarray Analysis - SNP
  Chromosomal Microarray Analysis - 250K SNP Array
  Chromosomal Microarray Analysis - CytoScan HD SNP Array
  Chromosome Analysis - Blood
  Chromosome Analysis - Prenatal - Amniotic Fluid
  Chromosome Analysis - Prenatal - Amniotic Fluid with ACHE
  Chromosome Analysis - Prenatal - Amniotic Fluid with AFP
  Chromosome Analysis - Prenatal - Amniotic Fluid with AFP and ACHE
  Chromosome Analysis - Prenatal - Amniotic Fluid with AFP, ACHE, and FH
  Chromosome Analysis - Prenatal - CVS
  Chromosome Analysis - Tissue
  Citrin Deficiency
  Citrullinemia Type I
  Cleidocranial Dysplasia
  Coenzyme Q10 Deficiency - CABC1 (ADCK3) Related
  Coenzyme Q10 Deficiency - COQ2 Related
  Coenzyme Q10 Deficiency - COQ9 Related
  Coenzyme Q10 Deficiency - PDSS1 Related
  Coenzyme Q10 Deficiency - PDSS2 Related
  Coenzyme Q10 Determination - Muscle
  COL2A1 - Related Disorders
  Combined Oxidative Phosphorylation Deficiency - MRPS16 Related
  Combined Oxidative Phosphorylation Deficiency - TSFM Related
  Combined Oxidative Phosphorylation Deficiency - TUFM Related
  Complex IV (COX) Deficiency - Mitochondrial Genes
  Complex IV (COX) Deficiency Panel - Nuclear Genes
  Comprehensive Autism Panel - Female Specific
  Comprehensive Autism Panel - Male Specific
  Comprehensive mtDNA Analysis by Massively Parallel Sequencing (MitoNGS)
  Congenital Disorders of Glycosylation MPI Related
  Congenital Disorders of Glycosylation PMM2 Related
  Coronary Heart Disease Risk Factor (9p21 rs10757278)
  Costello Syndrome - HRAS Related
  COX10 - Related Disorders
  COX15 - Related Disorders
  COX6B1 - Related Disorders
  CPT1B - Related Disorders
  Creatine and Guanidinoacetate Determination - Plasma
  Creatine and Guanidinoacetate Determination - Urine
  Creatine Transporter Deficiency - SLC6A8 Related
  Cytochrome P450 2C19 (CYP2C19) Genotyping
  Cytochrome P450 2D6 (CYP2D6) Genotyping

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D
  Deafness-Dystonia-Optic Neuronopathy Syndrome - TIMM8A
  Dentatorubral-Pallidoluysian Atrophy (DRPLA)
  DGUOK - Related Disorders
  Diamond Blackfan Anemia - RPS19 Related
  Dyskeratosis Congenita - TINF2 Related

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E
  EGFR FISH Analysis
  EGFR Mutation Analysis - Germline
  EGFR Mutation Analysis - Tumor
  Ehlers-Danlos Syndrome, Classic Type - COL5A1 Related
  Ehlers-Danlos Syndrome, Classic Type - COL5A2 Related
  Ehlers-Danlos Syndrome, Kyphoscoliotic Form - PLOD1 Related
  EIF2B5 - Related Leukoencephalopathy with Vanishing White Matter
  Epileptic Encephalopathy, Early Infantile, 4
  ERBB2 (HER2/neu) FISH Analysis
  Ethylmalonic Encephalopathy
  Expanded Chromosomal Microarray Analysis - Prenatal - Amniotic Fluid
  Expanded Chromosomal Microarray Analysis - Prenatal - CVS

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F
  Fabry Disease
  Factor V Leiden
  Familial Dysautonomia
  Familial Hypercholesterolemia
  Familial Thrombocytopenia with Propensity to Acute Myelogenous Leukemia
  FASTKD2 - Related Disorders
  FH - Related Disorders
  FISH Analysis - 1p36 Deletion Syndrome
  FISH Analysis - Adrenal Hypoplasia Congenita
  FISH Analysis - Alagille Syndrome, JAG1 Related
  FISH Analysis - Angelman Syndrome Panel
  FISH Analysis - Beckwith-Wiedemann Syndrome
  FISH Analysis - Charcot-Marie-Tooth Neuropathy Type 1A
  FISH Analysis - Cri-Du-Chat Syndrome
  FISH Analysis - DiGeorge/Velocardiofacial Syndrome Panel (22q and 10p)
  FISH Analysis - DiGeorge/Velocardiofacial Syndrome Type I (22q)
  FISH Analysis - Glycerol Kinase Deficiency
  FISH Analysis - Hereditary Neuropathy with Liability to Pressure Palsies
  FISH Analysis - Kallmann Syndrome Type I
  FISH Analysis - Langer-Giedion Syndrome Panel (EXT1 and TRPS1)
  FISH Analysis - LIS1-Associated Lissencephaly/Subcortical Band Heterotopia
  FISH Analysis - Microphthalmia with Linear Skin Defects Syndrome (MLS/MIDAS)
  FISH Analysis - Miller-Dieker Syndrome
  FISH Analysis - Multiple Exostoses Panel (EXT1 and EXT2)
  FISH Analysis - Multiple Exostoses Type I (EXT1)  
  FISH Analysis - Multiple Exostoses Type II/Potocki-Shaffer Panel (EXT2 and ALX4)
  FISH Analysis - Neurofibromatosis Type I
  FISH Analysis - Prader-Willi Syndrome Panel
  FISH Analysis - Prenatal Aneuploidy
  FISH Analysis - Rubinstein-Taybi Syndrome - CREBBP Related
  FISH Analysis - Sotos Syndrome
  FISH Analysis - SRY Related Phenotypes
  FISH Analysis - Telomeres Panel
  FISH Analysis - Trichorhinophalangeal Syndrome Type I
  FISH Analysis - WAGR Panel (WT1 and PAX6)
  FISH Analysis - Williams Syndrome
  FISH Analysis - Wilms Tumor (WT1)
  FISH Analysis - Wolf-Hirschhorn Syndrome
  FMR1 - Related Disorders
  Focal Dermal Hypoplasia
  FOXF1 - Related Disorders
  Friedreich Ataxia (FRDA)
  Fructose 1,6 Bisphosphatase Deficiency

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G
  Gaucher Disease
  GBE1 - Related Disorders
  Glucose Transporter Type 1 Deficiency Syndrome
  Glutaric Acidemia Type 1
  Glycogen Storage Disease Type 0, Liver Isoform
  Glycogen Storage Disease Type 0, Muscle Isoform
  Glycogen Storage Disease Type I (b,c,d)
  Glycogen Storage Disease Type Ia
  Glycogen Storage Disease Type II
  Glycogen Storage Disease Type III
  Glycogen Storage Disease Type IX - PHKA1 Related
  Glycogen Storage Disease Type IX - PHKA2 Related
  Glycogen Storage Disease Type IX - PHKB Related
  Glycogen Storage Disease Type IX - PHKG2 Related
  Glycogen Storage Disease Type V
  Glycogen Storage Disease Type VI
  Glycogen Storage Disease Type VII
  Glycogen Storage Disease Type X
  Glycogen Storage Disease Type XIII
  Glycogen Storage Disease Type XIV
  Glycogen Storage Disorder XII
  GM1 Gangliosidosis
  Guanidinoacetate Methyltransferase (GAMT) Deficiency

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H
  HADHA - Related Disorders
  HADHB - Related Disorders
  Hereditary Fructose Intolerance
  Hereditary Hearing Loss and Deafness - GJB2 Related
  Hereditary Hearing Loss and Deafness - GJB6 Related
  Hexosaminidase A & B Enzyme Analysis
  Hexosaminidase A Deficiency
  HFE - Associated Hereditary Hemochromatosis
  HHH Syndrome
  HNPCC - EPCAM Related
  HNPCC - MLH1 Related
  HNPCC - MSH2 Related
  HNPCC - MSH6 Related
  HNPCC - PMS2 Related
  HNPCC - Related Microsatellite Instability
  HNPCC Comprehensive Panel (MLH1, MSH2, & MSH6)
  Holocarboxylase Synthetase Deficiency
  Homocysteine Determination - Plasma
  Huntington Disease

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I
  Ichthyosis, X-linked [Steroid Sulfatase Deficiency]
  IGVH Mutation Analysis
  IKBKG Related Disorders
  Incontinentia Pigmenti
  Intrahepatic Cholestasis - ABCB11 Related
  Intrahepatic Cholestasis - ABCB4 Related
  Intrahepatic Cholestasis - ATP8B1 Related
  Isovaleric Acidemia

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J
  JAK2 Exon 12 Mutation Analysis
  JAK2 R683 Mutation Analysis
  JAK2 V617F Mutation Analysis

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K
  Kennedy Disease
  KIT Exon 8 & 17 Mutation Analysis
  KIT Exon 8, 9, 11, 17 Mutation Analysis - Germline
  KIT Exon 8, 9, 11, 17 Mutation Analysis - Tumor
  KIT Exon 9 & 11 Mutation Analysis - Germline
  KIT Exon 9 & 11 Mutation Analysis - Tumor
  Krabbe Disease
  KRAS - Related Disorders
  KRAS Mutation Analysis - Tumor

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L
  LCAD Deficiency
  Leber Hereditary Optic Neuropathy (LHON) Mutation Panel
  Leigh Syndrome - LRPPRC
  Lesch-Nyhan Syndrome
  Leukemia Translocation Panel
  Leukoencephalopathy
  Li-Fraumeni Syndrome
  Liver Failure, Acute Infantile
  Lowe Syndrome

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M
  Maple Syrup Urine Disease Type 2
  Maple Syrup Urine Disease Type 3
  MCAD Deficiency
  MECP2 - Related Disorders
  MEF2C - Related Disorders
  Methylmalonic Acid - Plasma
  Methylmalonic Acidemia - MCEE Related
  Methylmalonic Acidemia - MMAA Related
  Methylmalonic Acidemia - MMAB Related
  Methylmalonic Acidemia - MMADHC Related
  Methylmalonic Acidemia - MUT Related
  Mitochondrial Complex II Deficiency, SDHAF1 Related
  Mitochondrial Cytochrome b - Related Disorders
  Mitochondrial Depletion Syndrome
  Mitochondrial DNA ATPase Subunits Sequence Analysis
  Mitochondrial DNA Common Mutations and Deletions Screening Panel
  Mitochondrial DNA Complex I Subunits Sequence Analysis
  Mitochondrial DNA Content (qPCR) Analysis - Liver
  Mitochondrial DNA Content (qPCR) Analysis - Skeletal Muscle
  Mitochondrial DNA Depletion Syndrome Panel
  Mitochondrial DNA Depletion Syndrome SUCLG2-Related
  Mitochondrial DNA Disorders
  Mitochondrial DNA Point Mutation Quantification
  Mitochondrial Myopathy and Sideroblastic Anemia Type 1
  Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel
  Mitochondrial Phosphate Carrier Deficiency
  Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skeletal Muscle
  Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts
  Mitochondrial/Metabolic (MitoMet®) Microarray Analysis
  MMACHC (cblC) - Related Disorders
  MNGIE Syndrome
  Molybdenum Cofactor Deficiency
  Molybdenum Cofactor Deficiency
  MPD Panel - JAK2V617F, JAK2 Exon 12, MPL Exon 10
  MPL Exon 10 Mutation Analysis
  MPV17 - Related Disorders
  mtDNA Depletion Panel, Hepatocerebral Form (POLG, DGUOK, & MPV17)
  MTHFR Thermolabile Variant Analysis
  Mucolipidosis I [Sialidosis]
  Mucopolysaccharidosis Type I
  Mucopolysaccharidosis Type II
  Mucopolysaccharidosis Type IVA
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFA Related
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFB Related
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFDH Related
  Multiple Endocrine Neoplasia Type 1
  MUTYH (MYH) - Associated Polyposis
  MYO7A - Related Disorders
  Myopathy with Deficiency of ISCU
  Myotonic Dystrophy Type 1

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N
  N-Acetylglutamate Synthase Deficiency
  Nail-Patella Syndrome
  Niemann-Pick Disease Type A Ashkenazic Mutation Panel
  Niemann-Pick Disease Type C - NPC1 Related
  Niemann-Pick Disease Type C - NPC2 Related
  Nonsyndromic Hearing Loss and Deafness, X-Linked - POU3F4 Related
  Noonan - like Syndrome - SHOC2 Related
  Noonan Syndrome - NRAS Related
  Noonan Syndrome - SOS1 Related
  Nuclear Encoded ATPase Deficiency, TMEM70 Related
  Nuclear Encoded Complex I Deficiency - NDUFA1 Related
  Nuclear Encoded Complex I Deficiency - NDUFA7 Related
  Nuclear Encoded Complex I Deficiency - NDUFAF1 Related
  Nuclear Encoded Complex I Deficiency - NDUFAF2 Related
  Nuclear Encoded Complex I Deficiency - NDUFAF4 Related
  Nuclear Encoded Complex I Deficiency - NDUFS2-Related
  Nuclear Encoded Complex I Deficiency - NDUFS3 Related
  Nuclear Encoded Complex I Deficiency - NDUFS4 Related
  Nuclear Encoded Complex I Deficiency - NDUFS5 Related
  Nuclear Encoded Complex I Deficiency - NDUFS6 Related
  Nuclear Encoded Complex I Deficiency - NDUFS7 Related
  Nuclear Encoded Complex I Deficiency - NDUFS8 Related
  Nuclear Encoded Complex I Deficiency - NDUFV1 Related
  Nuclear Encoded Complex I Deficiency Panel (10 Genes)

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O
  Obesity, Monogenic Nonsyndromic - LEP Related
  Obesity, Monogenic Nonsyndromic - LEPR Related
  Obesity, Monogenic Nonsyndromic - PCSK1 Related
  Obesity, Monogenic Nonsyndromic - POMC Related
  Ocular Albinism, X-linked
  Oculocutaneous Albinism Type 1
  Oculocutaneous Albinism Type 2
  Oculocutaneous Albinism Type 3
  Oculocutaneous Albinism Type 4
  Oncology Chromosome Analysis
  Oncology Chromosome Analysis - CLL
  Oncology Chromosome Analysis - Solid Tumor
  Oncology FISH Analysis - ALL FISH Panel
  Oncology FISH Analysis - AML FISH Panel
  Oncology FISH Analysis - BCR/ABL: t(9;22) [CML/ALL/AML]
  Oncology FISH Analysis - CBFB: inv(16) [AML]
  Oncology FISH Analysis - CHIC2: Deleted 4q [Hypereosinophilic Syndrome]
  Oncology FISH Analysis - CLL FISH Panel
  Oncology FISH Analysis - Deletion 20q12 [MDS]
  Oncology FISH Analysis - Deletion 5 [MDS]
  Oncology FISH Analysis - Deletion 7 [MDS]
  Oncology FISH Analysis - ETO/AML1: t(8;21) [AML]
  Oncology FISH Analysis - Gain Chromosome 8
  Oncology FISH Analysis - IGH/BCL2: t(14;18) [Follicular Lymphoma]
  Oncology FISH Analysis - IGH/CCND1: t(14;11) [Mantle Cell Lymphoma]
  Oncology FISH Analysis - MDS FISH Panel
  Oncology FISH Analysis - MLL: 11q23
  Oncology FISH Analysis - Multiple Myeloma FISH Panel
  Oncology FISH Analysis - MYC translocation
  Oncology FISH Analysis - NHL FISH Panel
  Oncology FISH Analysis - PML/RARA: t(15;17) [AML]
  Oncology FISH Analysis - TEL/AMLI: t(12;21) [ALL]
  OPA3 - Related Disorders
  Optic Atrophy Type 1
  Organic Acid Screen - Urine
  Ornithine Transcarbamylase Deficiency
  Orotic Acid/Orotidine Determination - Urine
  Osteogenesis Imperfecta - CRTAP Related
  Osteogenesis Imperfecta - LEPRE1 Related

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P
  PCDH19 - Related X-Linked Female-Limited Epilepsy w/MR
  PDHA1 - Related Disorders
  Pelizaeus-Merzbacher-Like Disease
  Personalized Medical Genomic Profile (PMGP)
  Phenylalanine Determination - Plasma
  Phenylalanine Hydroxylase Deficiency
  PHEO and PGL Syndrome Panel (SDHB, SDHC, & SDHD)
  PIK3CA Mutation Analysis - Germline
  PIK3CA Mutation Analysis - Tumor
  PLP1 - Related Disorders
  PML/RARA Transcripts for Promyelocytic Leukemia
  POLG - Related Disorders
  POLG2 - Related Disorders
  Polyols - Urine
  Pontocerebellar Hypoplasia Type 6
  Prader-Willi Syndrome
  Progressive External Ophthalmoplegia (PEO)
  Propionic Acidemia - PCCA Related
  Propionic Acidemia - PCCB Related
  Prothrombin Mutation Panel
  PTEN - Related Disorders
  PTPN11 - Related Disorders
  Purine Nucleoside Phosphorylase Deficiency
  Purine Panel - Urine
  Pyridoxine-Dependent Seizures
  Pyridoxine-Dependent Seizures
  Pyruvate Carboxylase Deficiency
  Pyruvate Dehydrogenase E2 Deficiency

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Q

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R
  RAF1 - Related Disorders
  Rapid FISH Analysis - AneuVysion® (+13/+18/+21 /X/Y)
  Rapid FISH Analysis - Sex Chromosome (X/SRY)
  RECQL4 - Related Disorders
  RET - Related Disorders
  Rett Syndrome, Congenital Variant
  Rickets - Alopecia Syndrome
  RMRP - Related Disorders
  RRM2B - Related Disorders
  Rubinstein-Taybi Syndrome - CREBBP Related

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S
  SCAD Deficiency
  Schmid Metaphyseal Chondrodysplasia
  SCO1 - Related Disorders
  SCO2 - Related Disorders
  SDHA - Related Disorders
  SDHAF2 - Related Disorders
  SDHB - Related Disorders
  SDHC - Related Disorders
  SDHD - Related Disorders
  Sickle Cell Disease
  SLC25A4 (ANT1) - Related Disorders
  SLC9A6 - Related Syndromic Mental Retardation
  Smith-Lemli-Opitz Syndrome
  Smith-Magenis Syndrome
  Spinal Muscular Atrophy Diagnostic Test
  Spinocerebellar Ataxia Type 1
  Spinocerebellar Ataxia Type 10
  SRY Molecular Analysis
  SUCLA2 - Related Disorders
  SUCLG1 - Related Disorders
  Sulfocysteine Determination - Urine
  SURF1 - Related Disorders

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T
  Targeted Chromosomal Microarray Analysis - Prenatal - Amniotic Fluid
  Targeted Chromosomal Microarray Analysis - Prenatal - CVS
  Tay - Sachs Disease Ashkenazic Mutation Panel
  TAZ - Related Disorders
  Thiopurine S-Methyltransferase (TPMT) Deficiency
  Thrombophilia Mutation Panel
  Thymidine Determination - Plasma
  TK2 - Related Disorders
  TMLHE Deficiency
  TOMM20 - Related Disorders
  TP53 Mutation Analysis - Germline
  TP53 Mutation Analysis - Tumor
  Transcobalamin II Deficiency
  Tyrosinemia, Type 1

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U
  Usher Syndrome 3A - CLRN1 Related

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V
  VLCAD Deficiency
  Von Hippel Lindau Syndrome

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W
  Warfarin Sensitivity Genotyping
  WDR62 - Related Brain Malformation
  White Blood Cell Cystine
  Whole Exome Sequencing
  Wolman Disease

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X

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Y

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Z

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