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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
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Medical Genetics Test Services

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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
  ABCC8 Related Disorders
  Acetyl-CoA Carboxylase Deficiency (ACACA)
  Acetyl-CoA Carboxylase-Beta Deficiency (ACACB)
  Achondroplasia
  Acid Sphingomyelinase Deficiency
  ACTA1 Related Disorders
  Acute Lymphoblastic Leukaemia (PAX5)
  Acute Myeloid Leukemia (CEBPA)
  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)
  Adrenoleukodystrophy (ABCD1)
  Adult Screening Exome Sequencing
  Agenesis of the Corpus Callosum with Peripheral Neuropathy
  AIPL1-Related Retinitis Pigmentosa
  AKT2 Related Disorders
  Alagille Syndrome (JAG1)
  Albinism (13 gene panel by NGS)
  ALK Gene Rearrangement by FISH Analysis
  Alpha-Mannosidosis Types I and II
  ALPL Related Disorders
  AMACR Related Disorders (AMACR)
  Amino Acid Analysis - Cerebrospinal Fluid
  Amino Acid Analysis - Plasma
  Amino Acid Analysis - Urine
  Amish Lethal Microcephaly (SLC25A19)
  Amish Type Nemaline Myopathy 5
  Androgen Insensitivity Syndrome
  Angelman Syndrome
  ANKH Related Disorders
  ANO5 Related Disorders
  APC - Associated Polyposis Conditions
  Arginase Deficiency
  Arginine: Glycine Amidinotransferase (GATM) Deficiency (AGAT)
  Argininosuccinate Lyase Deficiency
  ARL6 Related Disorders
  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 with Isolated Vitamin E Deficiency
  Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (APTX)
  Ataxia, Posterior Column, with Retinitis Pigmentosa (FLVCR1)
  Ataxia-Telangiectasia-like Disorder (MRE11A)
  ATM Related Disorders
  ATP5A1 Related disorders
  ATP6V0A2 Related Disorders
  Autism Panel - Biochemistry 3-Plex
  Autism Panel - Biochemistry 5- Plex
  Autism Panel - Biochemistry 8-Plex
  Autoimmune Polyendocrinopathy 1
  Autosomal Dominant Nemaline Myopathy 6
  Autosomal Recessive Centronuclear Myopathy
  Autosomal Recessive Nemaline Myopathy 2
  Autosomal Recessive Nemaline Myopathy 7
  Autosomal Recessive Nemaline Myopathy 8

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B
  B4GALT7 Related Disorders
  BAG3 Related Disorders
  Bardet-Biedl Syndrome (18 gene panel by NGS)
  Bardet-Biedl Syndrome 1 (BBS1)
  Bardet-Biedl Syndrome 10 (BBS10)
  Bardet-Biedl Syndrome 12 (BBS12)
  Bardet-Biedl Syndrome 15 (WDPCP)
  Bardet-Biedl Syndrome 17 (LZTFL1)
  Bardet-Biedl Syndrome 2 (BBS2)
  Bardet-Biedl Syndrome 4 (BBS4)
  Bardet-Biedl Syndrome 5 (BBS5)
  Bardet-Biedl Syndrome 7 (BBS7)
  Bardet-Biedl Syndrome 9 (BBS9)
  Bare Lymphocyte Syndrome Type I (TAP1)
  Bare Lymphocyte Syndrome Type II (RFX5)
  Bare Lymphocyte Syndrome Type II Complementation Group A (CIITA)
  Bare Lymphocyte Syndrome Type II Complementation Group D (RFXAP)
  BCR/ABL1 - Qualitative Analysis
  BCR/ABL1 - Quantitative Analysis
  BCR-ABL1 Tyrosine Kinase Domain Sequence Analysis
  BCS1L - Related Disorders
  BEST1-Related Retinitis Pigmentosa
  BH4-Deficient Hyperphenylalaninemia A
  Bile acid synthesis defect, congenital, 2 (AKR1D1)
  Bile Acids Panel-Plasma
  Bile Acids Panel-Urine
  Biotinidase Deficiency
  Bloom Syndrome
  BluePrint Panel
  BluePrint Whole Exome Sequencing
  BMPR1A Related Disorders
  BRAF - Related Disorders
  BRAF V600 Mutation Analysis - Tumor
  BRCA1 Related Disorders
  BRCA1/2 Sequence & Deletion/Duplication Analysis
  BRCA2 Related Disorders
  Breast Cancer (BARD1)
  Breast-Ovarian Cancer (RAD51D)
  BRIP1 Related Disorders
  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
  CALR Exon 9 Mutation Analysis
  Camurati-Engelmann Disease (TGFB1)
  Canavan Disease
  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 (SLC22A5 (OCTN2))
  Carnitine Determination - Plasma
  Carnitine Palmitoyltransferase IA Deficiency (CPT1A )
  Carnitine Palmitoyltransferase II Deficiency (CPT2)
  CASP8 Related Disorders
  CAV3 Related Disorders
  CD247 Related Disorders (CD247)
  CD8 Deficiency, Familial (CD8A)
  CDC73 Related Disorders
  CDH1 Related Disorders
  CDH23 - Related Disorders
  CDKL5 - Related Disorders
  CDKN1C Related Disorders
  CDKN2A Related Disorders
  CEBPA Mutation Analysis - Germline - Blood
  CEBPA Mutation Analysis - Tumor
  Centronuclear Myopathy
  Centronuclear Myopathy 3
  Centronuclear Myopathy 4
  CEP290-Related Retinitis Pigmentosa
  Cerebrotendinous Xanthomatosis
  CERKL-Related Retinitis Pigmentosa
  CFTR - 5T Variant Analysis
  CFTR Sequence Analysis
  CFTR-Related Disorders Mutation Panel
  CHD7 - Related Disorders
  Chediak-Higashi Syndrome (LYST)
  CHEK2 Related Disorders
  Cholestasis Panel by NGS (7 gene panel by NGS)
  Chondrodysplasia punctata, rhizomelic, type 2 (GNPAT)
  CHRNA1 Related Disorders
  CHRNA7 - Related Disorders
  CHRNB1 Related Disorders
  CHRND Related Disorders
  CHRNE Related Disorders
  Chromosomal Microarray Analysis - CytoScan HD SNP Array
  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 - CVS
  Chromosome Analysis - Tissue
  Citrin Deficiency (SLC25A13)
  Citrullinemia Type I
  CLCN7-Related Osteopetrosis
  Cleidocranial Dysplasia
  CLN6 Related Disorders
  CLN8 Related Disorders
  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 (20 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 Deficiency 6
  Coenzyme Q10 Determination - Muscle
  COG6 Related Disorders (COG6)
  COL1A1 Related Disorders
  COL1A1/2 Related Disorders (2 gene panel by NGS)
  COL1A2 Related Disorders
  COL2A1 - Related Disorders
  COL6A1 Related Disorders
  COL6A2 Related Disorders
  COL6A3 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)
  Combined Pituitary Hormone Deficiency 2
  Comprehensive Autism Panel - Female Specific
  Comprehensive Autism Panel - Male Specific
  Comprehensive B-Cell Clonality Analysis
  Comprehensive Hereditary Cancer Panel (61 gene panel by NGS)
  Comprehensive T-Cell Clonality Analysis
  Compton-North Congenital Myopathy
  Cone-rod Dystrophy 15 (CDHR1)
  Congenital & Distal Myopathy (39 gene panel by NGS)
  Congenital Disorder of Glycosylation Type Iu
  Congenital Disorder of Glycosylation, Type Ic (ALG6)
  Congenital Disorder of Glycosylation, Type Id (ALG3)
  Congenital Disorder of Glycosylation, Type If
  Congenital Disorder of Glycosylation, Type Ig (ALG12)
  Congenital Disorder of Glycosylation, Type Ih (ALG8)
  Congenital Disorder of Glycosylation, Type IIb
  Congenital Disorder of Glycosylation, Type IIc
  Congenital Disorder of Glycosylation, Type IId (B4GALT1)
  Congenital Disorder of Glycosylation, Type IIe
  Congenital Disorder of Glycosylation, Type IIf
  Congenital Disorder of Glycosylation, Type IIg
  Congenital Disorder of Glycosylation, Type IIh
  Congenital disorder of glycosylation, type IIi (COG5)
  Congenital disorder of glycosylation, type IIj (COG4)
  Congenital disorder of glycosylation, type IIk (TMEM165)
  Congenital Disorder of Glycosylation, Type IIm (SLC35A2)
  Congenital Disorder of Glycosylation, Type Il (ALG9)
  Congenital disorder of glycosylation, type Ip (ALG11)
  Congenital disorder of glycosylation, type Ir (DDOST)
  Congenital disorder of glycosylation, type Is (ALG13)
  Congenital Disorder of Glycosylation, Type Iv (NGLY1)
  Congenital Disorders of Glycosylation - CDG Panel (36 gene panel by NGS)
  Congenital Disorders of Glycosylation (TUSC3)
  Congenital Disorders of Glycosylation MPI Related
  Congenital Disorders of Glycosylation PMM2 Related
  Congenital Disorders of Glycosylation Type Ie (DPM1)
  Congenital Disorders of Glycosylation Type Ii
  Congenital Disorders of Glycosylation Type IIa (MGAT2)
  Congenital Disorders of Glycosylation Type Ik
  Congenital Disorders of Glycosylation Type Im (DOLK)
  Congenital Disorders of Glycosylation Type In (RFT1)
  Congenital Disorders of Glycosylation Type Io (DPM3)
  Congenital Generalized Lipodystrophy Type 4
  Congenital Hypothyroidism, IYD-Related
  Congenital Ichthyosis Autosomal Recessive 1
  Congenital Muscular Dystrophy (25 gene panel by NGS)
  Congenital Muscular Dystrophy due to ITGA7 Deficiency
  Congenital Muscular Dystrophy Megaconial Type
  Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 10
  Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 11
  Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 12
  Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 7
  Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 8
  Congenital Myasthenia with Tubular Aggregates 1
  Congenital Myasthenic Syndrome (17 gene panel by NGS)
  Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency (MUSK)
  Congenital Myasthenic Syndrome with Pre- and Postsynaptic Defects
  Congenital Myasthenic Syndrome, ALG14 Related
  Congenital Myopathy
  Congenital Myopathy (24 gene panel by NGS)
  Congential Myasthenic Syndrome Associated with Episodic Apnea
  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)
  CP Related Disorders
  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
  CRYAB Related Disorders
  CTNS Related Disorders
  Custom Family Sequence Analysis
  Custom Proband Sequence Analysis
  Cutaneous Malignant Melanoma 3 (CDK4)
  CYP1B1 Related Disorders
  Cytochrome P450 2C19 (CYP2C19) Genotyping
  Cytochrome P450 2D6 (CYP2D6) Genotyping

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D
  Danon disease (LAMP2)
  Deafness-Dystonia-Optic Neuronopathy Syndrome - TIMM8A
  Dentatorubral-Pallidoluysian Atrophy (DRPLA)
  DES Related Disorders
  Desmoplastic Medulloblastoma (SUFU)
  Developmental Glaucoma (8 gene panel by NGS)
  DFNB31 Sequence Analysis
  DGUOK - Related Disorders
  DHDDS-Related Retinitis Pigmentosa
  Diamond Blackfan Anemia - RPS19 Related
  Digenic Fascioscapulohumeral Muscular Dystrophy 2
  DiGeorge Syndrome (TBX1)
  DNA Replication Helicase/Nuclease 2 Deficiency, Metabolic Myopathy (DNA2)
  DNM2 Related Disorders
  DOCK8 Related Disorders
  DOK7 Related Disorders
  DPAGT1 Related Disorders
  DPYD Related Disorders
  Dual Genome Leigh Disease (128 gene panel by NGS)
  DYSF Related Disorders
  Dyskeratosis Congenita - TINF2 Related
  Dystrophinopathies (DMD)

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E
  Early-Onset Distal Myopathy
  Early-Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD)
  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
  Emery-Dreifuss Muscular Dystrophy 1, X-Linked
  Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
  Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission (DNM1L)
  Endplate Acetylcholinesterase Deficiency
  Epileptic Encephalopathy, Early Infantile, 4
  Epimerase Deficiency Galactosemia (GALE)
  Erythrocytic AMP Deaminase Deficiency
  Ethylmalonic Encephalopathy (ETHE1)
  Expanded Chromosomal Microarray Analysis - Prenatal - Amniotic Fluid
  Expanded Chromosomal Microarray Analysis - Prenatal - CVS
  Exudative Vitreoretinopathy 5
  EYS-Related Retinitis Pigmentosa

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F
  Fabry Disease
  Factor V Leiden
  FAM161A-Related Retinitis Pigmentosa
  FAM20C Related Disorders
  Familial Dysautonomia
  Familial Dysautonomia
  Familial Exudative Vitreoretinopathy (4 gene panel by NGS)
  Familial Hemophagocytic Lymphohistiocytosis 3 (UNC13D)
  Familial Hemophagocytic Lymphohistiocytosis 4 (STX11)
  Familial Hemophagocytic Lymphohistiocytosis 5 (STXBP2)
  Familial Hypercholesterolemia
  Familial Thrombocytopenia with Propensity to Acute Myelogenous Leukemia
  Fanconi Anemia Complementation Group C
  Fanconi Anemia Complementation Group N (PALB2)
  Fanconi Anemia Complementation Group O (RAD51C)
  Fanconi-Bickel syndrome (SLC2A2)
  FARS2 Related disorders
  FASTKD2 - Related Disorders
  Fatty Acid Oxidation Deficiency (22 gene panel by NGS)
  FBN1 Related Disorders
  FH - Related Disorders
  FHL1 Related Disorders
  Fibrodysplasia Ossificans Progressiva
  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
  FKRP Related Disorders
  FKTN Related Disorders
  FLCN Related Disorders
  FLNC Related Disorders
  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
  FZD4 Related Disorders

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G
  G6PD Related Disorders
  Galactokinase Deficiency (GALK1)
  Galactosemia (GALT)
  GATA2 Related Disorders
  GATA6 Related Disorders
  Gaucher Disease
  GBE1 - Related Disorders
  GCK Related Disorders
  GeneAware ACMG and ACOG (female) GeneAware
  GeneAware ACMG and ACOG (male) GeneAware
  GeneAware Basic (male) GeneAware
  GJB6 Related Disorders
  Global Metabolomic Assisted Pathway Screen (Global MAPS)SM
  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 disease XV (GYG1)
  Glycogen Storage Disorder - Comprehensive Panel (23 gene panel by NGS)
  Glycogen Storage Disorder - Liver Panel by NGS (13 gene panel by NGS)
  Glycogen Storage Disorder - Muscle Panel by NGS (13 gene panel by NGS)
  Glycogen Storage Disorder XII (ALDOA)
  GM1 Gangliosidosis
  GMPPB Related Disorders
  GNE Related Disorders
  GPC3 Related Disorders
  GPR98 Related Disorders
  Guanidinoacetate Methyltransferase Deficiency (GAMT)
  GUCA1B-Related Retinitis Pigmentosa
  GUCY2D-Related Disorders
  Gyrate Atrophy of Choroid and Retina (OAT)

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H
  HADH Related Disorders (HADH)
  HADHA - Related Disorders
  HADHB - Related Disorders
  HARS2 Related disorders
  Hemochromatosis Type 1
  Hemochromatosis Type 2 A
  Hemochromatosis Type 2 B
  Hemochromatosis Type 3
  Hemochromatosis Type 4
  Hereditary Brain/CNS/PNS Cancer Panel (17 gene panel by NGS)
  Hereditary Breast/Ovarian/Endometrial Cancer Panel (23 gene panel by NGS)
  Hereditary Colorectal/Gastrointestinal Cancer Panel (22 gene panel by NGS)
  Hereditary Endocrine Cancer Panel (15 gene panel by NGS)
  Hereditary Fructose Intolerance (ALDOB)
  Hereditary Hearing Loss and Deafness - GJB2 Related
  Hereditary Hearing Loss and Deafness - GJB6 Related
  Hereditary Hemorrhagic Telangiectasia Type 1 (ENG)
  Hereditary Leukemia/Lymphoma Panel (13 gene panel by NGS)
  Hereditary Melanoma Panel (4 gene panel by NGS)
  Hereditary Neuralgic Amyotrophy (HNA) (SEPT9)
  Hereditary Pancreatic Cancer Panel (16 gene panel by NGS)
  Hereditary Paraganglioma/Pheochromocytoma Panel (9 gene panel by NGS)
  Hereditary Prostate Cancer Panel (5 gene panel by NGS)
  Hereditary Renal Cancer Panel (12 gene panel by NGS)
  Hermansky-Pudlak Syndrome 1
  Hermansky-Pudlak Syndrome 2 (AP3B1)
  Hermansky-Pudlak Syndrome 3
  Hermansky-Pudlak Syndrome 4
  Hermansky-Pudlak Syndrome 5
  Hermansky-Pudlak Syndrome 6
  Hermansky-Pudlak Syndrome 7
  Hermansky-Pudlak Syndrome 8
  Hexosaminidase A & B Enzyme Analysis
  Hexosaminidase A Deficiency
  HFE - Associated Hereditary Hemochromatosis
  HHH Syndrome (SLC25A15)
  High Bone Mass Panel by NGS
  High Risk Hereditary Breast Cancer Panel (7 gene panel by NGS)
  High Risk Hereditary Colorectal Cancer Panel (12 gene panel by NGS)
  HMG-CoA Lyase Deficiency (HMGCL)
  HMG-CoA synthase-2 deficiency (HMGCS2)
  HNF1A Related Disorders
  HNF1B Related Disorders
  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)
  HNRNPA1 Related Disorders
  Holocarboxylase Synthetase Deficiency (HLCS , HCS)
  Homocysteine Determination - Plasma
  Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (CBS)
  HPD Related Disorders
  HSD17B4 Related Disorders (HSD17B4)
  Huntington Disease
  Hyperinsulinism (8 gene panel by NGS)
  Hyperinsulinism-Hyperammonemia Syndrome (GLUD1)
  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
  IKBKG Related Disorders
  IKZF1 Related Disorders
  Immunodeficiency 17, CD3 Gamma Deficient (CD3G)
  Immunodeficiency 18 (CD3E)
  Immunodeficiency 19 (CD3D)
  Immunodeficiency 22 (LCK)
  Immunodeficiency 8 (CORO1A)
  Immunodeficiency 9 (ORAI1)
  Immunoglobulin Heavy Chain Gene Rearrangement
  IMPDH1-Related Retinitis Pigmentosa
  IMPG2-Related Retinitis Pigmentosa
  Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2
  Inclusion Body Myopathy-3
  Incontinentia Pigmenti
  INS Related Disorders
  INSR Related Disorders
  Intrahepatic Cholestasis - ABCB11 Related
  Intrahepatic Cholestasis - ABCB4 Related
  Intrahepatic Cholestasis - ATP8B1 Related
  Intrinsic Factor Deficiency (GIF)
  Iris hypoplasia and glaucoma (FOXC1)
  Isobutyryl-CoA Dehydrogenase Deficiency (ACAD8)
  Isovaleric Acidemia (IVD)

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J
  JAK2 Exon 12 Mutation Analysis
  JAK2 V617F Mutation Analysis

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K
  KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy
  KCNJ11 Related Disorders
  KCNQ2 Related Disorders
  Kennedy Disease
  Ketothiolase Deficiency (ACAT1)
  Ketotic Hypoglycemia and Gluconeogenesis Panel (ALDOB, FBP1, GYS2, PC)
  KIF11-Related Disorders
  KIT Exon 8 & 17 Mutation Analysis
  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
  LAMA2 Related Disorders
  LAMA3 Related Disorders
  LAMB2 Related Disorders
  LAMB3 Related Disorders
  LAMC2 Related Disorders
  LARGE Related Disorders
  LARS2-Related Disorders
  LCA5-Related Leber Congenital Amaurosis
  LCAD Deficiency (ACADL)
  LDB3 Related Disorders
  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 Disease (91 gene panel by NGS)
  Leigh Syndrome (LRPPRC)
  Lesch-Nyhan Syndrome
  Leukemia Mutation Panel
  Leukoencephalopathy (DARS2)
  Leukoencephalopathy with dystonia and motor neuropathy (SCP2)
  Li-Fraumeni Syndrome
  LIG4 Related Disorders
  Limb-Girdle Muscular Dystrophy Type 1E
  Limb-Girdle Muscular Dystrophy Type 1F
  Limb-Girdle Muscular Dystrophy Type 2A
  Limb-Girdle Muscular Dystrophy Type 2C
  Limb-Girdle Muscular Dystrophy Type 2D
  Limb-Girdle Muscular Dystrophy Type 2E
  Limb-Girdle Muscular Dystrophy Type 2S
  Liver Failure, Acute Infantile (TRMU)
  LMBRD1 (cblF)-Related Disorders
  LMNA Related Disorders
  Low Bone Mass Panel by NGS (23 gene panel by NGS)
  Lowe Syndrome
  LRAT-Related Retinitis Pigmentosa
  LRP5 Related Disorders
  Lymphoproliferative Syndrome 1 (ITK)
  Lymphoproliferative Syndrome 1 X-linked (SH2D1A)
  Lysinuric Protein Intolerance

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M
  MAK-Related Retinitis Pigmentosa
  Malabsorptive Congenital Diarrhea 4 (NEUROG3)
  Maple Syrup Urine Disease (4 gene panel by NGS)
  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
  Maturity-Onset Diabetes of the Young (MODY) (25 gene panel by NGS)
  Maturity-onset Diabetes of the Young 6 (NEUROD1)
  Maturity-onset Diabetes of the Young, Type 11 (BLK)
  Maturity-onset Diabetes of the Young, Type VII (KLF11)
  MCAD Deficiency (ACADM)
  MECP2 - Related Disorders
  MEF2C - Related Disorders
  MEFV Related Disorders
  Megalencephalic Leukoencephalopathy with Subcortical Cysts
  Menkes Disease (ATP7A)
  MERTK-Related Retinitis Pigmentosa
  MET Related Disorders
  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 Acidemia and Homocysteinemia, cblX Type (HCFC1)
  Methylmalonic Aciduria and Homocystinuria, cblJ Type (ABCD4)
  Methylmalonic Aciduria due to Transcobalamin Receptor Defect (CD320)
  MHC Class II Deficiency Complementation Group B (RFXANK)
  Microcephaly, Epilepsy, and Diabetes Syndrome (IER3IP1)
  Microphthalmia, Isolated 5 Disorder (MFRP)
  Microsatellite Instability Analysis (NCI Panel)
  Mismatch Repair Proteins Immunohistochemistry
  Mitchell-Riley Syndrome (RFX6)
  Mitochondrial Complex I Deficiency - NDUFB8 Related
  Mitochondrial Complex I Deficiency-FOXRED1 Related
  Mitochondrial Complex I Deficiency-NDUFA11 Related
  Mitochondrial Complex I Deficiency-NDUFA2 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 (20 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 13 (encephalomyopathic type) (FBXL4)
  Mitochondrial DNA Depletion Syndrome SUCLG2-Related
  Mitochondrial DNA Point Mutations and Deletions-NGS
  Mitochondrial Genome Comprehensive Analysis
  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 (201 gene panel by NGS)
  Mitome200-Nuclear Gene Panel by NGS (164 gene panel by NGS)
  MKKS Related Disorders
  MKS1 Related Disorders
  MMACHC (cblC) - Related Disorders
  MNGIE Syndrome (TYMP or ECGF1)
  Modifier of Bardet-Biedl syndrome (CCDC28B)
  MODY Type I (HNF4A)
  Molybdenum Cofactor Deficiency - MOCS1 Related
  Molybdenum Cofactor Deficiency - MOCS2 Related
  MPD Panel - JAK2V617F, JAK2 Exon 12, MPL Exon 10
  MPL Exon 10 Mutation Analysis
  MPL Related Disorders
  MPV17 - Related Disorders
  MPZ Related Disorders
  MRPL40 Related disorders
  MRPL44 Related disorders
  MRPS18A Related disorders
  MRPS2 Related disorders
  MRRF Related disorders
  MTFMT Related disorders
  MTHFR Thermolabile Variant Analysis
  MTRR Related Disorders
  Mucolipidosis I [Sialidosis]
  Mucolipidosis IV
  Mucopolysaccharidisis Type IIIA (Sanfilippo A)
  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
  Multiple Intestinal Atresia (TTC7A)
  Muscular Dystrophy (36 gene panel by NGS)
  Muscular Dystrophy-Dystroglycanopathy 9 (Limb-Girdle) Type C
  MUTYH (MYH) - Associated Polyposis
  MYBPC3 Related Disorders
  MYH7 Related Disorders
  MYO7A - Related Disorders
  Myoclonic Dystonia-11
  Myopathy due to Myoadenylate Deaminase Deficiency
  Myopathy with Deficiency of ISCU
  Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (GFER)
  Myopathy/Rhabdomyolysis Panel by NGS (27 gene panel by NGS)
  MYOT Related Disorders
  Myotonic Dystrophy Type 1

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N
  N-Acetylglutamate Synthase Deficiency (NAGS)
  Nail-Patella Syndrome
  NARS2 Related disorders
  Native American Myopathy
  NBN Related Disorders
  NDP Related Disorders
  Neonatal and Infantile Seizures Panel
  Neonatal Diabetes Mellitus with Congenital Hypothyroidism (GLIS3)
  Nephronophthisis (4 gene panel by NGS)
  Nephronophthisis 2, Infantile
  Nephrotic Syndrome Type 1
  Nephrotic Syndrome Type 2
  Neuroblastoma (ALK)
  Neuronal Ceroid Lipofuscinosis 1
  Neuronal Ceroid Lipofuscinosis 3
  Neuronal Ceroid Lipofuscinosis 5
  NF2 Related Disorders
  Niemann-Pick Disease Type A Ashkenazic Mutation Panel
  Niemann-Pick Disease Type C - NPC1 Related
  Niemann-Pick Disease Type C - NPC2 Related
  Nijmegen Breakage Syndrome-like Disorder (RAD50)
  Non-Polyposis Colorectal Cancer (PMS1)
  Nonsyndromic Hearing Loss and Deafness, X-Linked - POU3F4 Related
  Noonan - like Syndrome - SHOC2 Related
  Noonan Spectrum Disorders (12 gene panel by NGS)
  Noonan Syndrome - NRAS Related
  Noonan Syndrome - SOS1 Related
  Noonan Syndrome 8 (RIT1)
  Noonan Syndrome-like Disorder with or without Juvenile Myelomonocytic Leukemia (CBL)
  NPHP1 Related Disorders
  NPHP3 Related Disorders
  NPHP4 Related Disorders
  NPM1 Exon 11 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-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
  Oculopharyngeal Muscular Dystrophy
  Omenn Syndrome (7 gene panel by NGS)
  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 - AML1/ETO(RUNX1/RUNX1T1): t(8;21) [AML]
  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 - 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 - 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)
  OPTN Related Disorders
  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)
  Osteogenesis Imperfecta, Type XV (WNT1)
  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)
  Paraganglioma/Pheochromocytoma (TMEM127)
  PAX4 Related Disorders
  PAX6 Related Disorders
  PCDH15-Related Disorders
  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
  PDX1 Related Disorders
  Pelizaeus-Merzbacher-Like Disease
  PEPCK deficiency, mitochondrial (PCK2)
  Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis (PTF1A)
  Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
  Peroxisomal Disorders (22 gene panel by NGS)
  Peroxisome Biogenesis Disorder 1 (PEX1)
  Peroxisome Biogenesis Disorder 10A (Zellweger) (PEX3)
  Peroxisome Biogenesis Disorder 11 (PEX13)
  Peroxisome Biogenesis Disorder 12A (Zellweger) (PEX19)
  Peroxisome Biogenesis Disorder 13A (Zellweger) (PEX14)
  Peroxisome Biogenesis Disorder 14B (PEX11B)
  Peroxisome Biogenesis Disorder 2 (PEX5)
  Peroxisome Biogenesis Disorder 3 (PEX12)
  Peroxisome Biogenesis Disorder 4 (PEX6)
  Peroxisome Biogenesis Disorder 5 (PEX2)
  Peroxisome Biogenesis Disorder 6 (PEX10)
  Peroxisome Biogenesis Disorder 7 (PEX26)
  Peroxisome Biogenesis Disorder 8 (PEX16)
  PEX7 Related Disorders (PEX7)
  PGM3 Related Disorders (PGM3)
  Phenylalanine Determination - Blood Spot
  Phenylalanine Determination - Plasma
  Phenylalanine Hydroxylase Deficiency (PAH)
  Phenylbutyrate Metabolite Analysis
  PHEO and PGL Syndrome Panel (SDHB, SDHC, & SDHD)
  Pheochromocytoma (MAX)
  Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency (PCK1)
  PHOX2B Related Disorders
  PIK3CA Mutation Analysis - Germline
  PIK3CA Mutation Analysis - Tumor
  PITX2 Related Disorders
  PITX3 Related Disorders
  PLEC Related Disorders
  PLOD3 Related Disorders
  PLP1 - Related Disorders
  PML/RARA Transcripts for Promyelocytic Leukemia
  POC1B Related Disorders
  POLG - Related Disorders (POLG1, POLGA)
  POLG2 - Related Disorders
  Polycystic Kidney and Hepatic Disease
  Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Disorder (ABHD12)
  Polyols - Urine
  POMGNT1 Related Disorders
  POMT1 Related Disorders
  POMT2 Related Disorders
  Pontocerebellar Hypoplasia Type 6 (RARS2)
  PPIB-Related Osteogenesis Imperfecta
  Prader-Willi Syndrome
  Prader-Willi-like Syndrome; Intellectual Disability; Autism (MAGEL2)
  PRCD-Related Retinitis Pigmentosa
  PRF1 Related Disorders
  Primary Hyperoxaluria Type 1
  Primary Hyperoxaluria Type II
  Primary Open Angle Glaucoma (2 gene panel by NGS)
  Primary Open Angle Glaucoma 1A
  PRKAR1A Related Disorders
  PRKDC Related Disorders
  Progressive External Ophthalmoplegia - PEO Panel (10 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
  PTCH1 Related Disorders
  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
  RAG2 Related Disorders
  Rapid FISH Analysis - AneuVysion® (+13/+18/+21 /X/Y)
  Rapid FISH Analysis - Sex Chromosome (X/SRY)
  RAPSN Related Disorders
  RBP3-Related Retinitis Pigmentosa
  RD3-Related Leber Congenital Amaurosis
  RDH12-Related Retinitis Pigmentosa
  RECQL4 - Related Disorders
  Refsum Disease (PHYH)
  RET - Related Disorders
  Reticular Dysgenesis (AK2)
  Retinitis Pigmentosa Panel (66 gene panel by NGS)
  Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type (RLBP1)
  Retinoschisis
  Rett Syndrome, Congenital Variant
  RGR-Related Retinitis Pigmentosa
  Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
  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 Disorders
  RPGR-Related Retinitis Pigmentosa
  RRM2B - Related Disorders (RRM2B, p53R2)
  Rubinstein-Taybi Syndrome - CREBBP Related
  RYR1 Related Disorders
  RYR2 Related Disorders

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S
  SAG-Related Retinitis Pigmentosa
  SCAD Deficiency (ACADS)
  Schmid Metaphyseal Chondrodysplasia
  SCID Newborn Screening Follow-up Panel
  SCID, Autosomal Recessive, T- Negative/B-Positive Type
  SCN4A Related Disorders
  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
  Segawa Syndrome Recessive
  Selective T-cell Defect (ZAP70)
  SEMA4A-Related Retinitis Pigmentosa
  SEPN1 Related Disorders
  SERPINA1 Related Disorders (SERPINA1)
  Severe Combined Immunodeficiency (9 gene panel by NGS)
  Severe Combined Immunodeficiency (SCID) (46 gene panel by NGS)
  Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (NHEJ1)
  Severe Combined Immunodeficiency, Athabascan Type
  Severe Combined Immunodeficiency, B Cell-Negative
  Severe Combined Immunodeficiency, T cell-negative, B-cell/Natural Killer-Cell Positive (PTPRC)
  Severe Combined Immunodeficiency, T-Cell Negative, B-Cell/Natural Killer Cell-Positive Type (IL7R)
  SGCD Related Disorders
  Shwachman-Bodian-Diamond Syndrome
  Sickle Cell Disease
  Sjogren-Larsson Syndrome
  SLC16A1 Related Disorders
  SLC17A5 Related Disorders
  SLC25A4 (ANT1) - Related Disorders
  SLC26A2 Related Disorders
  SLC26A4 Related Disorders
  SLC9A3R1 Related Disorders
  SLC9A6 - Related Syndromic Mental Retardation
  SMAD4 Related Disorders
  Smith-Lemli-Opitz Syndrome
  Smith-Magenis Syndrome
  SMPD1 Related Disorders
  SNRNP200-Related Retinitis Pigmentosa
  SOST-Related Sclerosing Bone Dysplasias
  SP7-Related Osteogenesis Imperfecta
  Spastic Ataxia Charlevoix-Saguenay Type
  Spastic Paraplegia 7, Autosomal Recessive (SPG7)
  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)
  SRD5A3 Related Disorders
  SRY Molecular Analysis
  STAT5B Related Disorders
  STIM1 Related Disorders
  STK11 Related Disorders
  Succinic Semialdehyde Dehydrogenase Deficiency (ALDH5A1)
  Succinyladenosine - CSF
  SUCLA2 - Related Disorders
  SUCLG1 - Related Disorders
  Sulfocysteine Determination - Urine
  SURF1 - Related Disorders
  SYNE1 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)
  TCAP Related Disorders
  T-cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy (FOXN1)
  T-Cell Receptor Beta Gene Rearrangement
  T-Cell Receptor Gamma Gene Rearrangement
  TCIRG1-Related Autosomal Recessive Osteopetrosis
  TFAM Related Disorders
  TFB1M Related disorders
  Thiopurine S-Methyltransferase (TPMT) Deficiency
  Thrombophilia Mutation Panel
  Thymidine Determination - Plasma
  TK2 - Related Disorders
  TMEM216 Related Disorders
  TMEM43 Related Disorders
  TMEM67 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
  TPM2 Related Disorders
  TPM3 Related Disorders
  TPP1 Related Disorders
  Transcobalamin II Deficiency (TCN2)
  Trifunctional Protein Deficiency Panel (HADHA & HADHB)
  TRIM32 Related Disorders
  Trio Whole Exome Sequencing
  TSHR-Related Disorders
  TTC8-Related Retinitis Pigmentosa
  TTN Related Disorders
  TULP1-Related Retinitis Pigmentosa
  TYROBP Related Disorders
  Tyrosinemia Type II (TAT)
  Tyrosinemia, Type 1

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U
  UGT1A1 Related Disorders
  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 1G (USH1G)

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V
  VCP Related Disorders
  Vitamin D (25-hydroxyvitamin D2 and D3)
  VLCAD Deficiency (ACADVL)
  Von Hippel Lindau Syndrome
  VSX1 Related Disorders

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W
  Warfarin Sensitivity Genotyping
  WDR62 - Related Brain Malformation
  Welander Distal Myopathy
  WFS1 Related Disorders
  White Blood Cell Cystine
  Whole Exome Sequencing
  Whole Exome Sequencing Plus CMA
  Wilson Disease (ATP7B)
  Wolcott-Rallison Syndrome (EIF2AK3)
  Wolfram Syndrome 2 (CISD2)
  Wolman Disease
  WT1 Related Disorders

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X
  X-linked Immunodysregulation, Polyendocrinopathy, and Enteropathy (FOXP3)
  X-linked Lymphoproliferative Syndrome 2 (XIAP)
  X-linked Myotubular Myopathy
  X-Linked Severe Combined Immunodeficiency (IL2RG)

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Y

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Z
  ZNF513-Related Retinitis Pigmentosa

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