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#
  11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP11B1)
  17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP17A1)
  2,4-Dienoyl-CoA Reductase Deficiency (DECR1)
  2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD17B10)
  3 - Methylcrotonyl-CoA Carboxylase Deficiency - MCCC1 Related
  3 - Methylcrotonyl-CoA Carboxylase Deficiency - MCCC2 Related
  3-Methylcrotonyl-CoA Carboxylase Deficiency Panel (MCCC1, MCCC2)
  3-Methylglutaconic Aciduria Type I (AUH)

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A
  ABCA4 - Related Disorders
  Acetyl-CoA Carboxylase-Beta Deficiency (ACACB)
  Achondroplasia
  Acid Sphingomyelinase Deficiency
  ACTA2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  Acute Recurrent Myoglobinuria - LPIN1 Related
  Acylcarnitine Analysis - Plasma
  Acyl-CoA Dehydrogenase 9 Deficiency (ACAD9)
  Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency (ACADSB)
  Adenine Phosphoribosyltransferase Deficiency (APRT)
  Adenosine Deaminase Deficiency
  Adenosine Deaminase Deficiency (ADA)
  Adenylosuccinase Deficiency (ADSL)
  Adult Screening Exome Sequencing
  AIPL1-Related Retinitis Pigmentosa
  AKAP9 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  AKT1 Mutation Analysis - Tumor
  Alagille Syndrome (JAG1)
  ALK Gene Rearrangement by FISH Analysis
  ALK1 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  ALPL Related Disorders
  Amino Acid Analysis - Cerebrospinal Fluid
  Amino Acid Analysis - Plasma
  Amino Acid Analysis - Urine
  Amish Lethal Microcephaly (SLC25A19)
  Androgen Insensitivity Syndrome
  Angelman Syndrome
  ANK2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  ANKH Related Disorders
  APC - Associated Polyposis Conditions
  Arginase Deficiency
  Arginine: Glycine Amidinotransferase (GATM) Deficiency (AGAT)
  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
  Aspartylglycosaminuria (AGA)
  Ataxia, Posterior Column, with Retinitis Pigmentosa (FLVCR1)
  ATP5A1 Related disorders
  Autism Panel - Biochemistry 3-Plex
  Autism Panel - Biochemistry 5- Plex
  Autism Panel - Biochemistry 8-Plex
  Autoimmune Polyendocrinopathy 1
  Autosomal Dominant - PEO Panel (POLG, SLC25A4, & C10ORF2)

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B
  B4GALT7 Related Disorders
  BCR/ABL1 - Qualitative Analysis
  BCR/ABL1 - Quantitative Analysis
  BCR-ABL1 Tyrosine Kinase Domain Sequence Analysis
  BCS1L - Related Disorders
  BEST1-Related Retinitis Pigmentosa
  Biotinidase Deficiency
  Bloom Syndrome
  BMPR2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  BRAF - Related Disorders
  BRAF V600 Mutation Analysis - Tumor
  BRCA1/2 Sequence & Deletion/Duplication Analysis
  Bruck Syndrome 2 (PLOD2)
  Buschke-Ollendorff Syndrome (LEMD3)

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C
  C10orf2 (TWINKLE) - Related Disorders
  C2orf71-Related Retinitis Pigmentosa
  C8orf37-Related Retinitis Pigmentosa
  CA4-Related Retinitis Pigmentosa
  CACNA1B Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  CACNA1C Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  CALR Exon 9 Mutation Analysis
  Camurati-Engelmann Disease (TGFB1)
  Canavan Disease Ashkenazic Mutation Panel
  Cancer Chromosomal Microarray Analysis - 180K CGH/SNP Array
  Cancer Chromosomal Microarray Analysis - BCM 400K CGH/SNP Array
  Cancer Chromosomal Microarray Analysis - CytoScan HD SNP Array - Tumor
  Cancer Exome Sequencing
  Cancer Gene Mutation Panel Version 2
  Carbamoyl Phosphate Synthetase Deficiency
  Carbamoyl Phosphate Synthetase Deficiency (CPS1)
  Cardiofaciocutaneous Syndrome - MAP2K1 Related
  Cardiofaciocutaneous Syndrome - MAP2K2 Related
  Carnitine Acylcarnitine Translocase (CACT) Deficiency (SLC25A20 )
  Carnitine Biosynthesis Panel - Plasma
  Carnitine Biosynthesis Panel - Urine
  Carnitine Deficiency, Systemic
  Carnitine Determination - Plasma
  Carnitine Palmitoyltransferase IA Deficiency (CPT1A )
  Carnitine Palmitoyltransferase II Deficiency (CPT2)
  CASQ2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  CAV3 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  CDH23 - Related Disorders
  CDKL5 - Related Disorders
  CEBPA Mutation Analysis - Germline - Blood
  CEBPA Mutation Analysis - Tumor - FFPE
  CEBPA Mutation Analysis - Tumor - Non-FFPE
  CEP290-Related Retinitis Pigmentosa
  CERKL-Related Retinitis Pigmentosa
  CFTR - 5T Variant Analysis
  CFTR Sequence Analysis
  CFTR-Related Disorders Mutation Panel
  CHD7 - Related Disorders
  Cholestasis Panel by NGS
  CHRNA7 - Related Disorders
  Chromosomal Microarray Analysis - CytoScan HD SNP Array - Non-Tumor
  Chromosomal Microarray Analysis - HR
  Chromosomal Microarray Analysis - HR + SNP Screen (Comprehensive)
  Chromosomal Microarray Analysis - POC (for paraffin-embedded tissue only)
  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 (SLC25A13)
  Citrullinemia Type I
  CLCN7-Related Osteopetrosis
  Cleidocranial Dysplasia
  CMA-Expanded and Limited Karyotype - Prenatal - Amniotic Fluid
  CMA-Expanded and Limited Karyotype - Prenatal - CVS
  CMA-Targeted and Limited Karyotype - Prenatal - Amniotic Fluid
  CMA-Targeted and Limited Karyotype - Prenatal - CVS
  CNGA1-Related Retinitis Pigmentosa
  CNGB1-Related Retinitis Pigmentosa
  Cobalamin Metabolism Panel (9 gene panel by NGS)
  Coenzyme Q10 Deficiency - CABC1 (ADCK3) Related
  Coenzyme Q10 Deficiency - COQ2 Related (COQ2, CL640, FLJ26072)
  Coenzyme Q10 Deficiency - COQ9 Related
  Coenzyme Q10 Deficiency - PDSS1 Related (PDSS1, COQ1, TPT)
  Coenzyme Q10 Deficiency - PDSS2 Related (PDSS2, bA59I9.3)
  Coenzyme Q10 Determination - Muscle
  COL1A1/2 Related Disorders, Low Bone Mass, Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Caffey Disease (2 gene panel by NGS)
  COL1A2 Related Disorders
  COL2A1 - Related Disorders
  Combined Malonic & Methylmalonic Aciduria (ACSF3)
  Combined Oxidative Phosphorylation Deficiency - MRPS16 Related
  Combined Oxidative Phosphorylation Deficiency - TSFM Related (EF-TS, EF-Tsmt)
  Combined Oxidative Phosphorylation Deficiency - TUFM Related
  Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
  Combined Oxidative Phosphorylation Deficiency 5 (MRPS22)
  Combined Oxidative Phosphorylation Deficiency 7 (C12orf65)
  Combined Oxidative Phosphorylation Deficiency 8 (AARS2)
  Complex IV (COX) Deficiency Panel - Nuclear Genes (SURF1, SCO1, SCO2, COX10)
  Comprehensive Autism Panel - Female Specific
  Comprehensive Autism Panel - Male Specific
  Comprehensive B-Cell Clonality Analysis
  Comprehensive B-Cell Clonality Analysis - FFPE
  Comprehensive Hereditary Cancer Panel
  Comprehensive mtDNA Analysis by NGS
  Comprehensive T-Cell Clonality Analysis
  Comprehensive T-Cell Clonality Analysis - FFPE
  Cone-rod Dystrophy 15 (CDHR1)
  Congenital Disorders of Glycosylation - CDG Panel (27 gene panel by NGS)
  Congenital Disorders of Glycosylation MPI Related
  Congenital Disorders of Glycosylation PMM2 Related
  Congenital Disorders of Glycosylation Type Ie (DPM)
  Congenital Disorders of Glycosylation Type Ii
  Congenital Disorders of Glycosylation Type IIa (MGAT)
  Congenital Disorders of Glycosylation Type Ik
  Congenital Disorders of Glycosylation Type Im
  Congenital Disorders of Glycosylation Type In (RFT1)
  Congenital Disorders of Glycosylation Type Io (DPM3)
  Congenital Hypothyroidism, IYD-Related
  CoQ10 Deficiency (5 gene panel by NGS)
  Coronary Heart Disease Risk Factor (9p21 rs10757278)
  Costello Syndrome - HRAS Related
  COX10 - Related Disorders
  COX15 - Related Disorders
  COX6B1 - Related Disorders (COXG)
  CPT1B - Related Disorders
  CRB1-Related Retinitis Pigmentosa
  Creatine and Guanidinoacetate Determination - Plasma
  Creatine and Guanidinoacetate Determination - Urine
  Creatine Panel
  Creatine Transporter Deficiency - SLC6A8 Related
  CRX-Related Retinitis Pigmentosa
  Custom Family Sequence Analysis
  Custom Proband Sequence Analysis
  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)
  DES Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  DFNB31 Sequence Analysis
  DGUOK - Related Disorders (dGK)
  DHDDS-Related Retinitis Pigmentosa
  Diamond Blackfan Anemia - RPS19 Related
  DNA Replication Helicase/Nuclease 2 Deficiency, Metabolic Myopathy (DNA2)
  Dyskeratosis Congenita - TINF2 Related
  Dystrophinopathies (DMD)

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E
  EGFR FISH Analysis
  EGFR Mutation Analysis - Germline
  EGFR Mutation Analysis - Tumor
  Ehlers-Danlos Syndrome Type IV (COL3A1)
  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
  EMD Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  ENG Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  Epileptic Encephalopathy, Early Infantile, 4
  Epimerase Deficiency Galactosemia (GALE)
  Ethylmalonic Encephalopathy (ETHE1)
  Expanded Chromosomal Microarray Analysis - Prenatal - Amniotic Fluid
  Expanded Chromosomal Microarray Analysis - Prenatal - CVS
  EYS-Related Retinitis Pigmentosa

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F
  Fabry Disease
  Factor V Leiden
  FAM161A-Related Retinitis Pigmentosa
  FAM20C Related Disorders
  Familial Dysautonomia
  Familial Exudative Vitreoretinopathy (4 gene panel by NGS)
  Familial Hypercholesterolemia
  Familial Thrombocytopenia with Propensity to Acute Myelogenous Leukemia
  FARS2 Related disorders
  FASTKD2 - Related Disorders
  Fatty Acid Oxidation Deficiency (17 gene panel by NGS)
  FBN1 Related Disorders
  FBN2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  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 - 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
  FKBP10-Related Osteogenesis Imperfecta
  FLT3 Mutation Analysis
  FMR1 - Related Disorders
  Focal Dermal Hypoplasia
  FOXF1 - Related Disorders
  Friedreich Ataxia (FRDA)
  Fructose 1,6 Bisphosphatase Deficiency (FBP1)
  FSCN2-Related Retinitis Pigmentosa

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G
  Galactokinase Deficiency (GALK1)
  Galactosemia (GALT)
  GATA4 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  Gaucher Disease
  GBE1 - Related Disorders
  Glucose Transporter Type 1 Deficiency Syndrome
  Glutaric Acidemia Type 1 (GCDH)
  Glutaric Acidemia Type 3 (C7orf10)
  Glycine Encephalopathy (AMT)
  Glycogen Storage Disease Type 0, Liver Isoform (GYS2)
  Glycogen Storage Disease Type 0, Muscle Isoform (GYS1)
  Glycogen Storage Disease Type I (b,c,d) (SLC37A4)
  Glycogen Storage Disease Type Ia (G6PC , GSD1a)
  Glycogen Storage Disease Type II (GAA)
  Glycogen Storage Disease Type III (AGL)
  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 (PYGM)
  Glycogen Storage Disease Type VI (PYGL)
  Glycogen Storage Disease Type VII (PFKM)
  Glycogen Storage Disease Type X (PGAM2)
  Glycogen Storage Disease Type XI (LDHA)
  Glycogen Storage Disease Type XIII (ENO3)
  Glycogen Storage Disease Type XIV (PGM1)
  Glycogen Storage Disorder - Comprehensive Panel by NGS
  Glycogen Storage Disorder - Liver Panel by NGS
  Glycogen Storage Disorder - Muscle Panel by NGS
  Glycogen Storage Disorder XII (ALDOA)
  GM1 Gangliosidosis
  GNE Related Disorders
  Guanidinoacetate Methyltransferase Deficiency (GAMT)
  GUCA1B-Related Retinitis Pigmentosa
  GUCY2D-Related Leber Congenital Amaurosis

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H
  HADHA - Related Disorders
  HADHB - Related Disorders
  HARS2 Related disorders
  Hereditary Brain/CNS/PNS Cancer Panel
  Hereditary Breast/Ovarian Cancer Panel
  Hereditary Endocrine Cancer Panel
  Hereditary Fructose Intolerance (ALDOB)
  Hereditary GI/Colorectal Cancer Panel
  Hereditary Hearing Loss and Deafness - GJB2 Related
  Hereditary Hearing Loss and Deafness - GJB6 Related
  Hereditary High Risk Breast Cancer Panel
  Hereditary High Risk Colorectal Cancer Panel
  Hereditary Neuralgic Amyotrophy (HNA) (SEPT9)
  Hereditary Pheochromocytoma-Paraganglioma Cancer Panel
  Hereditary Renal Cancer Panel
  Hexosaminidase A & B Enzyme Analysis
  Hexosaminidase A Deficiency
  HFE - Associated Hereditary Hemochromatosis
  HHH Syndrome (SLC25A15)
  High Bone Mass Panel by NGS
  HMG-CoA Lyase Deficiency (HMGCL)
  HNPCC - EPCAM Related
  HNPCC - MLH1 Related
  HNPCC - MSH2 Related
  HNPCC - MSH6 Related
  HNPCC - PMS2 Related
  HNPCC Comprehensive Panel (MLH1, MSH2, & MSH6)
  HNPCC MSI & IHC Screening
  HNPCC PLUS Comprehensive Panel (MLH1, MSH2, MSH6, PMS2, EPCAM)
  Holocarboxylase Synthetase Deficiency (HLCS , HCS)
  Homocysteine Determination - Plasma
  Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (CBS)
  HPD Related Disorders
  Huntington Disease
  Hypermethioninemia (GNMT)
  Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency (AHCY)
  Hyperprolinemia Type II
  Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis (SARS2)
  Hypophosphatemic Nephrolithiasis/Osteoporosis, 1 (SLC34A1)

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I
  Ichthyosis, X-linked [Steroid Sulfatase Deficiency]
  IDH3B-Related Retinitis Pigmentosa
  Ig Kappa Light Chain Gene Rearrangement
  Ig Kappa Light Chain Gene Rearrangement - FFPE
  IGVH Mutation Analysis
  IKBKG Related Disorders
  Immunoglobulin Heavy Chain Gene Rearrangement
  Immunoglobulin Heavy Chain Gene Rearrangement - FFPE
  IMPDH1-Related Retinitis Pigmentosa
  IMPG2-Related Retinitis Pigmentosa
  Incontinentia Pigmenti
  Intrahepatic Cholestasis - ABCB11 Related
  Intrahepatic Cholestasis - ABCB4 Related
  Intrahepatic Cholestasis - ATP8B1 Related
  Iris hypoplasia and glaucoma (FOXC1)
  Isobutyryl-CoA Dehydrogenase Deficiency (ACAD8)
  Isovaleric Acidemia (IVD)

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

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K
  KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy
  KCNE1 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  KCNE2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  KCNH2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  KCNJ2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  KCNJ5 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  KCNQ1 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  KCNQ2 Related Disorders
  Kennedy Disease
  Ketothiolase Deficiency (ACAT1)
  Ketotic Hypoglycemia and Gluconeogenesis Panel (ALDOB, FBP1, GYS2, PC)
  KIT Exon 8 & 17 Mutation Analysis
  KIT Exon 8, 9, 11, 13, 17 Mutation Analysis - Tumor - FFPE
  KIT Exon 8, 9, 11, 13, 17 Mutation Analysis - Tumor - Non-FFPE
  KIT Exon 8, 9, 11, 13,17 Mutation Analysis - Germline - Blood
  KIT Exon 9 & 11 Mutation Analysis - Germline
  KIT Exon 9 & 11 Mutation Analysis - Tumor
  KLHL7-Related Retinitis Pigmentosa
  Krabbe Disease
  KRAS - Related Disorders
  KRAS Mutation Analysis - Tumor

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L
  LAMP2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  LARS2-Related Disorders
  LCA5-Related Leber Congenital Amaurosis
  LCAD Deficiency (ACADL)
  Leber Congenital Amaurosis Panel (19 gene panel by NGS)
  Leber Congenital Amaurosis, Calcium Binding Protein 4 Deficiency (CABP4)
  Leber Congenital Amaurosis, IQ Motif Containing B1 Deficiency (IQCB1)
  Leber Congenital Amaurosis, Nicotinamide Nucleotide Adenylyltransferase 1 Deficiency (NMNAT1)
  Leber Congenital Amaurosis, Orthodenticle Homeobox 2 Deficiency (OTX2)
  Leber Congenital Amaurosis, Potassium Inwardly-Rectifying Channel, Subfamily J, Member 13 Deficiency (KCNJ13)
  Leigh Syndrome (LRPPRC)
  Lesch-Nyhan Syndrome
  Leukemia Mutation Panel
  Leukoencephalopathy (DARS2)
  Li-Fraumeni Syndrome
  Liver Failure, Acute Infantile (TRMU)
  LMBRD1 (cblF)-Related Disorders
  LMNA Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  Low Bone Mass Panel by NGS
  Lowe Syndrome
  LRAT-Related Retinitis Pigmentosa

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M
  MAK-Related Retinitis Pigmentosa
  Maple Syrup Urine Disease Panel (BCKDHA, BCKDHB, DBT, DLD)
  Maple Syrup Urine Disease Type 1A (BCKDHA)
  Maple Syrup Urine Disease Type 1B (BCKDHB)
  Maple Syrup Urine Disease Type 2 (DBT)
  Maple Syrup Urine Disease Type 3 (DLD)
  MARS2 Related Disorders
  MAX-Related Disorders
  MCAD Deficiency (ACADM)
  MECP2 - Related Disorders
  MEF2C - Related Disorders
  Menkes Disease (ATP7A)
  MERTK-Related Retinitis Pigmentosa
  Methylcobalamin Deficiency, cblG Type (MTR)
  Methylmalonic Acid - Plasma
  Methylmalonic Acidemia - 3 Gene Panel (MUT, MMAA, MMAB)
  Methylmalonic Acidemia - MCEE Related
  Methylmalonic Acidemia - MMAA Related (cblA)
  Methylmalonic Acidemia - MMAB Related (cblB)
  Methylmalonic Acidemia - MMADHC Related
  Methylmalonic Acidemia - MUT Related
  Methylmalonic Aciduria and Homocystinuria, cblJ Type (ABCD4)
  Microphthalmia, Isolated 5 Disorder (MFRP)
  Microsatellite Instability Analysis (NCI Panel)
  Mismatch Repair Proteins Immunohistochemistry
  Mitochondrial Complex I Deficiency-FOXRED1 Related
  Mitochondrial Complex I Deficiency-NDUFA11 Related
  Mitochondrial Complex I Deficiency-NDUFA8 Related
  Mitochondrial Complex I Deficiency-NDUFAF3 Related
  Mitochondrial Complex I Deficiency-NDUFAF5 Related
  Mitochondrial Complex I Deficiency-NDUFB6 Related
  Mitochondrial Complex I Deficiency-NDUFV3 Related
  Mitochondrial Complex I Deficiency-NUBPL Related
  Mitochondrial Complex II Deficiency, SDHAF1 Related
  Mitochondrial Complex III Deficiency-TTC19 Related
  Mitochondrial Complex III Deficiency-UQCRB Related
  Mitochondrial Complex III Deficiency-UQCRQ Related
  Mitochondrial Complex IV Deficiency-COX4I1 Related
  Mitochondrial Complex IV Deficiency-COX4I2 Related
  Mitochondrial Complex IV Deficiency-COX7A1 Related
  Mitochondrial Complex IV Deficiency-TACO1 Related
  Mitochondrial Complex V Deficiency-ATP5E Related
  Mitochondrial Complex V Deficiency-ATPAF2 Related (ATP12)
  Mitochondrial Depletion Syndrome Panel by NGS (15 gene panel by NGS)
  Mitochondrial DNA Content (qPCR) Analysis - Liver
  Mitochondrial DNA Content (qPCR) Analysis - Skeletal Muscle
  Mitochondrial DNA Depletion Syndrome 11 (MGME1)
  Mitochondrial DNA Depletion Syndrome Panel (POLG, DGUOK, TK2, SUCLA2)
  Mitochondrial DNA Depletion Syndrome SUCLG2-Related
  Mitochondrial DNA Point Mutations and Deletions-NGS
  Mitochondrial Myopathy and Sideroblastic Anemia Type 1 (PUS1)
  Mitochondrial Myopathy and Sideroblastic Anemia Type 2 (YARS2)
  Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel
  Mitochondrial Phosphate Carrier Deficiency (SLC25A3, PHC)
  Mitochondrial Respiratory Chain Complex I Deficiency (25 nuclear gene panel by NGS)
  Mitochondrial Respiratory Chain Complex II Deficiency (6 nuclear gene panel
  Mitochondrial Respiratory Chain Complex III Deficiency (4 nuclear gene panel by NGS)
  Mitochondrial Respiratory Chain Complex IV Deficiency (12 nuclear gene panel by NGS)
  Mitochondrial Respiratory Chain Complex I-V Deficiency (50 nuclear gene pan
  Mitochondrial Respiratory Chain Complex V Deficiency (3 nuclear gene panel by NGS)
  Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skeletal Muscle
  Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts
  Mitochondrial/Metabolic (MitoMet®Plus) Microarray Analysis
  Mitochondrial/Metabolic (MitoMet®Plus) Microarray Analysis
  Mitome200-Dual Genome Panel by NGS
  Mitome200-Nuclear Gene Panel by NGS
  MLH1 Immunohistochemistry
  MMACHC (cblC) - Related Disorders
  MNGIE Syndrome (TYMP or ECGF1)
  Molybdenum Cofactor Deficiency - MOCS1 Related
  Molybdenum Cofactor Deficiency - MOCS2 Related
  MPD Panel - JAK2V617F, JAK2 Exon 12, MPL Exon 10
  MPL Exon 10 Mutation Analysis
  MPV17 - Related Disorders
  MRPL40 Related disorders
  MRPL44 Related disorders
  MRPS18A Related disorders
  MRPS2 Related disorders
  MRRF Related disorders
  MSH2 Immunohistochemistry
  MSH6 Immunohistochemistry
  mtDNA Depletion Panel, Hepatocerebral Form (POLG, DGUOK, & MPV17)
  MTFMT Related disorders
  MTHFR Thermolabile Variant Analysis
  MTRR Related Disorders
  Mucolipidosis I [Sialidosis]
  Mucopolysaccharidosis Type I
  Mucopolysaccharidosis Type II
  Mucopolysaccharidosis Type IVA
  Mucopolysaccharidosis Type VI (ARSB)
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFA Related
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFB Related
  Multiple Acyl-CoA Dehydrogenase Deficiency - ETFDH Related
  Multiple Acyl-CoA Dehydrogenase Deficiency Panel (ETFA, ETFB & ETFDH)
  Multiple Endocrine Neoplasia Type 1
  MUTYH (MYH) - Associated Polyposis
  MYH11 Mutation AnalysisJohn Welsh Cardiovascular Diagnostic Laboratory
  MYLK Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  MYO7A - Related Disorders
  Myopathy with Deficiency of ISCU
  Myopathy/Rhabdomyolysis Panel by NGS
  Myotonic Dystrophy Type 1

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N
  N-Acetylglutamate Synthase Deficiency (NAGS)
  Nail-Patella Syndrome
  NARS2 Related disorders
  Neonatal and Infantile Seizures Panel
  Niemann-Pick Disease Type A Ashkenazic Mutation Panel
  Niemann-Pick Disease Type C - NPC1 Related
  Niemann-Pick Disease Type C - NPC2 Related
  NKX2.5 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  Nonsyndromic Hearing Loss and Deafness, X-Linked - POU3F4 Related
  Noonan - like Syndrome - SHOC2 Related
  Noonan Syndrome - NRAS Related
  Noonan Syndrome - SOS1 Related
  NOTCH1 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  NPM1 Exon 12 Mutation Analysis
  NR2E3-Related Retinitis Pigmentosa
  NRL-Related Retinitis Pigmentosa
  Nuclear Encoded ATPase Deficiency, TMEM70 Related
  Nuclear Encoded Complex I Deficiency - NDUFA1 Related (CI-MWFE, MWFE)
  Nuclear Encoded Complex I Deficiency - NDUFA7 Related
  Nuclear Encoded Complex I Deficiency - NDUFAF1 Related
  Nuclear Encoded Complex I Deficiency - NDUFAF2 Related (B17.2L, MMTN)
  Nuclear Encoded Complex I Deficiency - NDUFAF4 Related (HRPAP20, C6orf66)
  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 (PSST)
  Nuclear Encoded Complex I Deficiency - NDUFS8 Related
  Nuclear Encoded Complex I Deficiency - NDUFV1 Related
  Nuclear Encoded Complex I Deficiency Panel (10 Genes)
  Nuclear Encoded Complex I Deficiency-NDUFA10 Related
  Nuclear Encoded Complex I Deficiency-NDUFA13 Related
  Nuclear Encoded Complex I Deficiency-NDUFS1 Related

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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 - 1p/19q Deletion
  Oncology FISH Analysis - ALL FISH Panel
  Oncology FISH Analysis - AML FISH Panel
  Oncology FISH Analysis - BCL6 Rearrangement
  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 - DXZ1/DYZ3
  Oncology FISH Analysis - ERBB2 (HER2/neu)
  Oncology FISH Analysis - ETO/AML1: t(8;21) [AML]
  Oncology FISH Analysis - Gain Chromosome 8
  Oncology FISH Analysis - IGH Rearrangement
  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 - MET Amplification
  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 - RET Rearrangement
  Oncology FISH Analysis - ROS1 Rearrangement
  Oncology FISH Analysis - SS18 FISH for Synovial Sarcoma
  Oncology FISH Analysis - TCF3/PBX1 FISH for ALL
  Oncology FISH Analysis - TEL/AMLI: t(12;21) [ALL]
  OPA3 - Related Disorders (FLJ22187, MGA3)
  Optic Atrophy Type 1 (OPA1)
  Organic Acid Screen - Urine
  Organic Acidurias - Urinary Acylglycines
  Ornithine Transcarbamylase Deficiency (OTC)
  Orotic Acid/Orotidine Determination - Urine
  Osteogenesis Imperfecta - CRTAP Related
  Osteogenesis Imperfecta - LEPRE1 Related
  Osteogenesis Imperfecta Type VI (SERPINF1)
  Osteogenesis Imperfecta, Type V (IFITM5)
  Osteopathia Striata with Cranial Sclerosis (FAM123B)
  Osteopetrosis with Renal Tubular Acidosis (CA2)
  OSTM1-Related Autosomal Recessive Osteopetrosis
  Overgrowth Panel - Targeted Mutation Detection by Next Generation Sequencing

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P
  Paget Disease, Juvenile (TNFRSF11B)
  PCDH19 - Related X-Linked Female-Limited Epilepsy w/MR
  PDE6A-Related Retinitis Pigmentosa
  PDE6B-Related Retinitis Pigmentosa
  PDE6G-Related Retinitis Pigmentosa
  PDH & Mitochondrial Respiratory Chain Complex V Deficiency (9 nuclear gene panel by NGS)
  PDHA1 - Related Disorders
  Pelizaeus-Merzbacher-Like Disease
  Phenylalanine Determination - Blood Spot
  Phenylalanine Determination - Plasma
  Phenylalanine Hydroxylase Deficiency (PAH)
  Phenylbutyrate Metabolite Analysis
  PHEO and PGL Syndrome Panel (SDHB, SDHC, & SDHD)
  PIK3CA Mutation Analysis - Germline
  PIK3CA Mutation Analysis - Tumor
  PLOD3 Related Disorders
  PLP1 - Related Disorders
  PML/RARA Transcripts for Promyelocytic Leukemia
  PMS2 Immunohistochemistry
  POLG - Related Disorders (POLG1, POLGA)
  POLG2 - Related Disorders
  Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Disorder (ABHD12)
  Polyols - Urine
  Pontocerebellar Hypoplasia Type 6 (RARS2)
  PPIB-Related Osteogenesis Imperfecta
  Prader-Willi Syndrome
  Prader-Willi-like Syndrome; Intellectual Disability; Autism (MAGEL2)
  PRCD-Related Retinitis Pigmentosa
  Primary Open Angle Glaucoma (2 gene panel by NGS)
  Progressive External Ophthalmoplegia - PEO Panel (8 gene panel by NGS)
  PROM1-Related Retinitis Pigmentosa
  Propionic Acidemia - PCCA Related
  Propionic Acidemia - PCCB Related
  Propionic Acidemia Panel (PCCA & PCCB)
  Prothrombin Mutation Panel
  Proximal Urea Cycle Disorders (3 gene panel by NGS)
  PRPF31-Related Retinitis Pigmentosa
  PRPF3-Related Retinitis Pigmentosa
  PRPF6-Related Retinitis Pigmentosa
  PRPF8-Related Retinitis Pigmentosa
  PRPH2-Related Retinitis Pigmentosa
  PTEN - Related Disorders
  PTPN11 - Related Disorders
  Purine and Pyrimidine Panel - Urine
  Purine Nucleoside Phosphorylase Deficiency (PNP)
  Purine Panel - Urine
  Pycnodysostosis (CTSK)
  Pyridoxine-Dependent Seizures
  Pyrimidine Panel - Urine
  Pyruvate Carboxylase Deficiency (PC)
  Pyruvate Dehydrogenase Deficiency (PDHB)
  Pyruvate Dehydrogenase E2 Deficiency (DLAT)
  Pyruvate Dehydrogenase E3-Binding Protein (Component X) Deficiency (PDHX)
  Pyruvate Dehydrogenase Phosphatase Deficiency (PDP1)

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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)
  RBP3-Related Retinitis Pigmentosa
  RD3-Related Leber Congenital Amaurosis
  RDH12-Related Retinitis Pigmentosa
  RECQL4 - Related Disorders
  RET - Related Disorders
  Retinitis Pigmentosa Panel (66 gene panel by NGS)
  Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type (RLBP1)
  Rett Syndrome, Congenital Variant
  RGR-Related Retinitis Pigmentosa
  RHO-Related Retinitis Pigmentosa
  Rickets - Alopecia Syndrome
  RMRP - Related Disorders
  ROM1-Related Retinitis Pigmentosa
  RP1-Related Retinitis Pigmentosa
  RP2-Related Retinitis Pigmentosa
  RP9-Related Retinitis Pigmentosa
  RPE65-Related Retinitis Pigmentosa
  RPGRIP1-Related Leber Congenital Amaurosis
  RPGR-Related Retinitis Pigmentosa
  RRM2B - Related Disorders (RRM2B, p53R2)
  Rubinstein-Taybi Syndrome - CREBBP Related

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S
  SAG-Related Retinitis Pigmentosa
  SCAD Deficiency (ACADS)
  Schmid Metaphyseal Chondrodysplasia
  SCID Newborn Screening Follow-up Panel
  SCN4B Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  SCN5A Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  SCO1 - Related Disorders
  SCO2 - Related Disorders (SCO2 or SCO1L)
  SDHA - Related Disorders
  SDHAF2 - Related Disorders (SDH5)
  SDHB - Related Disorders
  SDHC - Related Disorders
  SDHD - Related Disorders
  SEMA4A-Related Retinitis Pigmentosa
  Sickle Cell Disease
  SLC25A4 (ANT1) - Related Disorders
  SLC2A10 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  SLC9A3R1 Related Disorders
  SLC9A6 - Related Syndromic Mental Retardation
  SMAD3 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  SMAD4 Mutation AnalysisJohn Welsh Cardiovascular Diagnostic Laboratory
  SMAD8 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  Smith-Lemli-Opitz Syndrome
  Smith-Magenis Syndrome
  SNRNP200-Related Retinitis Pigmentosa
  SNTA1 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  SOST-Related Sclerosing Bone Dysplasias
  SP7-Related Osteogenesis Imperfecta
  SPATA7-Related Retinitis Pigmentosa
  Spinal Muscular Atrophy Diagnostic Test
  Spinocerebellar Ataxia Type 1
  Spinocerebellar Ataxia Type 10
  Spinocerebellar Ataxia Type 14 (PRKCG)
  Spondylocheirodysplasia, Ehlers-Danlos Syndrome (SLC39A13)
  SRY Molecular Analysis
  Succinic Semialdehyde Dehydrogenase Deficiency (ALDH5A1)
  Succinyladenosine - CSF
  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
  Targeted mtDNA Analysis by Massively Parallel Sequencing (MitoNGSSM)
  Tay-Sachs Disease Ashkenazic Mutation Panel
  Tay-Sachs Disease Carrier Testing (Serum)
  Tay-Sachs Disease Carrier Testing (WBC)
  TAZ - Related Disorders (BTHS, G4.5, XAP-2)
  TBX20 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  TBX5 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  T-Cell Receptor Beta Gene Rearrangement
  T-Cell Receptor Beta Gene Rearrangement - FFPE
  T-Cell Receptor Gamma Gene Rearrangement
  T-Cell Receptor Gamma Gene Rearrangement - FFPE
  TCIRG1-Related Autosomal Recessive Osteopetrosis
  TFAM Related Disorders
  TFB1M Related disorders
  TGFB2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  TGFBR1 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  TGFBR2 Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  Thiopurine S-Methyltransferase (TPMT) Deficiency
  Thrombophilia Mutation Panel
  Thymidine Determination - Plasma
  TK2 - Related Disorders
  TMLHE Deficiency
  TNFRSF11A Related Disorders
  TNFSF11-Related Autosomal Recessive Osteopetrosis
  TOMM20 - Related Disorders (MAS20P, TOM20)
  TOPORS-Related Retinitis Pigmentosa
  TP53 Mutation Analysis - Germline
  TP53 Mutation Analysis - Tumor
  Transcobalamin II Deficiency (TCN2)
  Trifunctional Protein Deficiency Panel (HADHA & HADHB)
  TSHR-Related Disorders
  TTC8-Related Retinitis Pigmentosa
  TULP1-Related Retinitis Pigmentosa
  TYROBP Related Disorders
  Tyrosinemia Type II (TAT)
  Tyrosinemia, Type 1

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U
  UGT1A1 TA Repeat Analysis
  Urea Cycle Disorders and Hyperammonemia (8 gene panel by NGS)
  Usher Panel by NGS
  Usher Syndrome 2A
  Usher Syndrome 3A - CLRN1 Related
  Usher Syndrome Type 1C (USH1C)
  Usher Syndrome Type 1F (PCDH15)
  Usher Syndrome Type 1G (USH1G)
  Usher Syndrome Type 2C (GPR98)

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V
  Vitamin D (25-hydroxyvitamin D2 and D3)
  VLCAD Deficiency (ACADVL)
  Von Hippel Lindau Syndrome

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W
  Warfarin Sensitivity Genotyping
  WDR62 - Related Brain Malformation
  White Blood Cell Cystine
  Whole Exome Sequencing
  Whole Exome Sequencing Plus CMA
  Wilson Disease (ATP7B)
  Wolman Disease

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X
  X-Linked Severe Combined Immunodeficiency (IL2RG)

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Y

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Z
  ZASP Mutation Analysis John Welsh Cardiovascular Diagnostic Laboratory
  ZNF513-Related Retinitis Pigmentosa

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