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Houston, Texas

Genetic Laboratory
Baylor 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-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)
  3-Methylglutaconic Aciduria Type V

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A
  ABCA4 - Related Disorders
  Acetyl-CoA Carboxylase Deficiency (ACACA)
  Achondroplasia
  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)
  Additional Affected Sibling for Trio
  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
  AIFM1 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
  Androgen Insensitivity Syndrome
  Angelman Syndrome
  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]
  Aspartylglycosaminuria (AGA)
  Ataxia with Isolated Vitamin E Deficiency
  Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (APTX)
  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

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B
  B4GALT7 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 2 (BBS2)
  Bardet-Biedl Syndrome 4 (BBS4)
  Bardet-Biedl Syndrome 5 (BBS5)
  Bardet-Biedl Syndrome 7 (BBS7)
  Bardet-Biedl Syndrome 9 (BBS9)
  B-Cell Clonality Screening (IgH and IgK) by PCR
  BCR-ABL1 Mutation Analysis for Tyrosine Kinase Inhibitor Resistance by Next Generation Sequencing
  BCR-ABL1, Major (p210), Quantitative
  BCR-ABL1, Qualitative Analysis with Reflex to BCR-ABL1 Quantitative
  BCS1L - Related Disorders
  BEST1-Related Retinitis Pigmentosa
  BH4-Deficient Hyperphenylalaninemia A
  Bile acid synthesis defect, congenital, 2 (AKR1D1)
  Bile Acids Panel-Plasma
  Biotinidase Deficiency
  Bloom Syndrome
  BluePrint Panel
  BluePrint Proband Whole Exome Sequencing
  BMPR1A Related Disorders
  BRAF - Related Disorders
  BRAF V600 Mutation Analysis
  BRCA1 Related Disorders
  BRCA1 Related Disorders; BRCA 2 Related Disorders
  BRCA2 Related Disorders
  Breast Cancer (BARD1)
  Breast-Ovarian Cancer (RAD51D)
  BRIP1 Related Disorders
  Buschke-Ollendorff Syndrome (LEMD3)

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C
  C10orf2 (TWINKLE) - Related Disorders
  C2orf71-Related Retinitis Pigmentosa
  CA4-Related Retinitis Pigmentosa
  CALR (Calreticulin) Exon 9 Mutation Analysis by PCR
  Camurati-Engelmann Disease (TGFB1)
  Canavan Disease
  Cancer Chromosomal Microarray Analysis - 180K CGH/SNP Array
  Cancer Chromosomal Microarray Analysis - CytoScan HD SNP Array - Tumor
  Carbamoyl Phosphate Synthetase Deficiency
  Carbamoyl Phosphate Synthetase Deficiency (CPS1)
  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)
  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 Detection
  CEP290-Related Retinitis Pigmentosa
  Cerebrotendinous Xanthomatosis
  CFTR - 5T Variant Analysis
  CFTR Sequence Analysis
  CHD7 - Related Disorders
  CHEK2 Related Disorders
  Cholestasis Panel by NGS (7 gene panel by NGS)
  Chondrodysplasia punctata, rhizomelic, type 2 (GNPAT)
  CHRNA7 - Related Disorders
  Chromosomal Microarray Analysis
  Chromosomal Microarray Analysis - CytoScan HD SNP Array
  Chromosomal Microarray Analysis - HR
  Chromosomal Microarray Analysis - HR + SNP Screen (Comprehensive)
  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
  ClariFindTM Comprehensive DNA Panel
  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
  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 - PDSS2 Related (PDSS2, bA59I9.3)
  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
  Combined Malonic & Methylmalonic Aciduria (ACSF3)
  Combined Oxidative Phosphorylation Deficiency - TSFM Related (EF-TS, EF-Tsmt)
  Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
  Combined Oxidative Phosphorylation Deficiency 10
  Combined Oxidative Phosphorylation Deficiency 12
  Combined Oxidative Phosphorylation Deficiency 5 (MRPS22)
  Combined Oxidative Phosphorylation Deficiency 7 (C12orf65)
  Combined Oxidative Phosphorylation Deficiency 8 (AARS2)
  Combined Oxidative Phosphorylation Deficiency 9
  Combined Pituitary Hormone Deficiency 2
  Comprehensive Autism Panel - Female Specific
  Comprehensive Autism Panel - Male Specific
  Comprehensive Hereditary Cancer Panel (61 gene panel by NGS)
  Cone-rod Dystrophy 15 (CDHR1)
  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 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 Ik
  Congenital Disorders of Glycosylation Type Im (DOLK)
  Congenital Hypothyroidism, IYD-Related
  Congenital Ichthyosis Autosomal Recessive 1
  CoQ10 Deficiency (5 gene panel by NGS)
  Coronary Heart Disease Risk Factor (9p21 rs10757278)
  Costello Syndrome - HRAS Related
  COX10 - Related Disorders
  COX15 - 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
  Critical Trio Whole Exome Sequencing
  CRX-Related Retinitis Pigmentosa
  CTNS Related Disorders
  Custom Family Sequence Analysis
  Custom Proband Sequence Analysis
  Custom Sequence Analysis - Prenatal
  Custom Sequence Analysis - Proband
  Cutaneous Malignant Melanoma 3 (CDK4)
  CYP1B1 Related Disorders

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D
  Deafness-Dystonia-Optic Neuronopathy Syndrome - TIMM8A
  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
  DiGeorge Syndrome (TBX1)
  DPYD Related Disorders
  Dual Genome Leigh Disease (128 gene panel by NGS)
  Dystrophinopathies (DMD)

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E
  EGFR FISH Analysis
  EGFR Mutation Analysis - Germline
  EGFR Mutation Detection by Pyrosequencing
  Ehlers-Danlos Syndrome Types III & 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
  Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission (DNM1L)
  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
  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 Exudative Vitreoretinopathy (4 gene panel by NGS)
  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)
  FARS2 Related disorders
  FASTKD2 - Related Disorders
  Fatty Acid Oxidation Deficiency (22 gene panel by NGS)
  FBN1 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 - Custom Familial FISH Studies
  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
  FLCN 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)
  Gastrointestinal Stromal Tumor Mutation
  GATA2 Related Disorders
  GBE1 - Related Disorders
  GeneAware ACMG/ACOG Panel Version 2 (Female) GeneAware
  GeneAware ACMG/ACOG Panel Version 2 (Male) GeneAware
  GeneAware Ashkenazi Jewish Panel Version 2 (Female) GeneAware
  GeneAware Ashkenazi Jewish Panel Version 2 (Male) GeneAware
  GeneAware Basic Panel Version 2 (Female) GeneAware
  GeneAware Basic Panel Version 2 (Male) GeneAware
  GeneAware Complete Panel Version 2 (Female) GeneAware
  GeneAware Complete Panel Version 2 (Male) GeneAware
  Global Metabolomic Assisted Pathway Screen (Global MAPS)®
  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)
  GNE Related Disorders
  GPC3 Related Disorders
  GPR98 Related Disorders
  Guanidinoacetate Methyltransferase Deficiency (GAMT)
  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 Panel
  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 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)
  HNPCC - EPCAM Related
  HNPCC - MLH1 Related
  HNPCC - MSH2 Related
  HNPCC - MSH6 Related
  HNPCC - PMS2 Related
  HNPCC MSI & IHC Screening
  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
  Hypoglycemia (87 gene panel by NGS)
  Hypophosphatemic Nephrolithiasis/Osteoporosis, 1 (SLC34A1)

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I
  Ichthyosis, X-linked [Steroid Sulfatase Deficiency]
  IGHV Mutation Analysis by Sequencing
  IKBKG Related Disorders
  IMPDH1-Related Retinitis Pigmentosa
  IMPG2-Related Retinitis Pigmentosa
  Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2
  Incontinentia Pigmenti
  INSR Related Disorders
  Intrahepatic Cholestasis - ABCB11 Related
  Intrahepatic Cholestasis - ABCB4 Related
  Intrahepatic Cholestasis - ATP8B1 Related
  Intrinsic Factor Deficiency (GIF)
  Isobutyryl-CoA Dehydrogenase Deficiency (ACAD8)
  Isovaleric Acidemia (IVD)

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J
  JAK2 Exon 12 Mutation Analysis by PCR
  JAK2 Gene, V617F Mutation, Qualitative

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K
  KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy
  KCNQ2 Related Disorders
  Kennedy Disease
  Ketothiolase Deficiency (ACAT1)
  Ketotic Hypoglycemia and Gluconeogenesis Panel (ALDOB, FBP1, GYS2, PC)
  KIF11-Related Disorders
  KIT Mutations in AML by Fragment Analysis and Sequencing
  KIT Mutations, Melanoma
  Krabbe Disease

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L
  LAMA3 Related Disorders
  LAMB3 Related Disorders
  LAMC2 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)
  Leigh Disease (91 gene panel by NGS)
  Leigh Syndrome - LRPPRC
  Lesch-Nyhan Syndrome
  Leukoencephalopathy (DARS2)
  Leukoencephalopathy with dystonia and motor neuropathy (SCP2)
  Li-Fraumeni Syndrome
  Li-Fraumeni syndrome with brain tumours
  Liver Failure, Acute Infantile (TRMU)
  LMBRD1 (cblF)-Related Disorders
  Low Bone Mass Panel by NGS (23 gene panel by NGS)
  Lowe Syndrome
  LRAT-Related Retinitis Pigmentosa
  LRP5 Related Disorders
  Lysinuric Protein Intolerance
  Lysosomal Acid Lipase Deficiency

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M
  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)
  MCAD Deficiency (ACADM)
  MECP2 - 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 due to Transcobalamin Receptor Defect (CD320)
  MFN2 Related Disorders
  Microphthalmia, Isolated 5 Disorder (MFRP)
  Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR
  Mismatch Repair Proteins Immunohistochemistry
  Mitchondrial Complex III Deficiency - UQCR10 Related
  Mitochondrial Complex I Deficiency
  Mitochondrial Complex I Deficiency - NDUFB8 Related
  Mitochondrial Complex I Deficiency-FOXRED1 Related
  Mitochondrial Complex I Deficiency-NDUFA11 Related
  Mitochondrial Complex I Deficiency-NDUFAF3 Related
  Mitochondrial Complex I Deficiency-NUBPL Related
  Mitochondrial Complex II Deficiency, SDHAF1 Related
  Mitochondrial Complex III Deficiency Nuclear Type 5
  Mitochondrial Complex III Deficiency-TTC19 Related
  Mitochondrial Complex IV Deficiency-COX4I1 Related
  Mitochondrial Complex IV Deficiency-TACO1 Related
  Mitochondrial Complex V Deficiency - ATP5O Related
  Mitochondrial Complex V Deficiency-ATP5E Related
  Mitochondrial Depletion Syndrome Panel (20 gene panel by NGS)
  Mitochondrial Disorders - MTHFD1L Related
  Mitochondrial Disorders - POLRMT Related
  Mitochondrial Disorders - SIRT5 Related
  Mitochondrial Disorders - TOPMT Related
  Mitochondrial Disorders - TRIT1 Related
  Mitochondrial DNA Content (qPCR) Analysis - Liver
  Mitochondrial DNA Content (qPCR) Analysis - Skeletal Muscle
  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 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 (229 gene panel by NGS)
  Mitome200-Nuclear Gene Panel by NGS (192 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)
  Molybdenum Cofactor Deficiency - MOCS1 Related
  Molybdenum Cofactor Deficiency - MOCS2 Related
  MPL codon 515 Mutation Detection by Pyrosequencing, Quantitative
  MPL Related Disorders
  MPV17 - Related Disorders
  MRPL44 Related disorders
  MTFMT Related disorders
  MTHFR Related Disorders
  MTHFR Thermolabile Variant Analysis
  MTRR Related Disorders
  Mucolipidosis IV
  Mucopolysaccharidosis Type I
  Mucopolysaccharidosis Type II
  Mucopolysaccharidosis Type IIIA (Sanfilippo A)
  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 Acyl-CoA Dehydrogenase Deficiency Panel (ETFA, ETFB & ETFDH)
  Multiple Endocrine Neoplasia Type 1
  MUTYH (MYH) - Associated Polyposis
  MYO7A - Related Disorders
  Myopathy with Deficiency of ISCU
  Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (GFER)
  Myopathy/Rhabdomyolysis Panel by NGS (25 gene panel by NGS)
  Myotonic Dystrophy Type 1

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N
  N-Acetylglutamate Synthase Deficiency (NAGS)
  Nail-Patella Syndrome
  NARS2 Related disorders
  NBN Related Disorders
  NDP Related Disorders
  Neonatal and Infantile Seizures Panel
  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 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
  NR2E3-Related Retinitis Pigmentosa
  Nuclear Encoded ATPase Deficiency, TMEM70 Related
  Nuclear Encoded Complex I Deficiency - NDUFA1 Related (CI-MWFE, MWFE)
  Nuclear Encoded Complex I Deficiency - NDUFAF1 Related
  Nuclear Encoded Complex I Deficiency - NDUFAF2 Related (B17.2L, MMTN)
  Nuclear Encoded Complex I Deficiency - NDUFS3 Related
  Nuclear Encoded Complex I Deficiency - NDUFS4 Related
  Nuclear Encoded Complex I Deficiency - NDUFS6 Related
  Nuclear Encoded Complex I Deficiency - NDUFS8 Related
  Nuclear Encoded Complex I Deficiency - NDUFV1 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 - Solid Tumor
  Oncology Chromosome Analysis-Hematologic Cancer
  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(11;14) [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)
  Osteogenesis Imperfecta - CRTAP Related
  Osteogenesis Imperfecta - LEPRE1 Related
  Osteogenesis Imperfecta, Type V (IFITM5)
  Osteopathia Striata with Cranial Sclerosis
  Osteopetrosis with Renal Tubular Acidosis (CA2)
  Overgrowth Panel - Targeted Mutation Detection by Next Generation Sequencing

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P
  Paraganglioma/Pheochromocytoma (TMEM127)
  PAX6 Related Disorders
  PCDH15 Related Disorders
  PCDH19 - Related X-Linked Female-Limited Epilepsy w/MR
  PDE6B-Related Retinitis Pigmentosa
  PDH & Mitochondrial Respiratory Chain Complex V Deficiency (9 nuclear gene panel by NGS)
  PDHA1 - Related Disorders
  Pelizaeus-Merzbacher-Like Disease
  PEPCK deficiency, mitochondrial (PCK2)
  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
  PITX2 Related Disorders
  PITX3 Related Disorders
  PLP1 - Related Disorders
  PML-RARA Translocation, t(15;17) by RT-PCR, Quantitative
  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
  Pontocerebellar Hypoplasia Type 6 (RARS2)
  Prader-Willi Syndrome
  Prader-Willi-like Syndrome; Intellectual Disability; Autism (MAGEL2)
  Prenatal Trio Whole Exome Sequencing
  PreSeek Non-invasive Prenatal Gene Sequencing Screen
  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
  Proband Whole Exome Sequencing
  Proband Whole Exome Sequencing Plus CMA
  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
  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)
  RDH12-Related Retinitis Pigmentosa
  Recessive Intermediate D Charcot-Marie-Tooth Disease
  RECQL4 - Related Disorders
  Refsum Disease (PHYH)
  RET - Related Disorders
  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)
  Rickets - Alopecia Syndrome
  RMRP - Related Disorders
  ROM1-Related Retinitis Pigmentosa
  RP2-Related Retinitis Pigmentosa
  RPE65-Related Retinitis Pigmentosa
  RPGRIP1 Related Disorders
  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
  SCO1 - Related Disorders
  SCO2 - Related Disorders (SCO2 or SCO1L)
  SDHA - Related Disorders
  SDHB - Related Disorders
  SDHC - Related Disorders
  SDHD - Related Disorders
  Segawa Syndrome Recessive
  Sequential Trio Whole Exome Sequencing
  SERPINA1 Related Disorders (SERPINA1)
  Severe Combined Immunodeficiency, Athabascan Type
  Severe Combined Immunodeficiency, Autosomal Recessive, T- Negative/B-Positive Type
  Severe Combined Immunodeficiency, B Cell-Negative
  Shwachman-Bodian-Diamond Syndrome
  Sickle Cell Disease
  SIRT1 Related Disorders
  Sjogren-Larsson Syndrome
  SLC16A1 Related Disorders
  SLC17A5 Related Disorders
  SLC25A4 (ANT1) - Related Disorders
  SLC26A2 Related Disorders
  SLC26A4 Related Disorders
  SMAD4 Related Disorders
  Smith-Lemli-Opitz Syndrome
  Smith-Magenis Syndrome
  SMPD1 Related Disorders
  Spastic Ataxia Charlevoix-Saguenay Type
  Spastic Paraplegia 7, Autosomal Recessive (SPG7)
  Spinal Muscular Atrophy Diagnostic Test
  Spinocerebellar Ataxia Type 14 (PRKCG)
  Spondylocheirodysplasia, Ehlers-Danlos Syndrome (SLC39A13)
  SRD5A3 Related Disorders
  SRY Molecular Analysis
  STK11 Related Disorders
  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 Carrier Testing (Serum)
  Tay-Sachs Disease Carrier Testing (WBC)
  TAZ - Related Disorders (BTHS, G4.5, XAP-2)
  T-Cell Clonality Screening by PCR
  TCIRG1-Related Autosomal Recessive Osteopetrosis
  Thrombophilia Mutation Panel
  Thymidine Determination - Plasma
  TK2 - Related Disorders
  TMEM216 Related Disorders
  TMEM67 Related Disorders
  TMLHE Deficiency
  TOPORS-Related Retinitis Pigmentosa
  Total BluePrint Panel
  TP53 Somatic Mutation, Prognostic
  TP53 Targeted Mutation Analysis - Germline
  TPP1 Related Disorders
  Transcobalamin II Deficiency (TCN2)
  Trifunctional Protein Deficiency Panel (HADHA & HADHB)
  Trio Whole Exome Sequencing
  TSHR-Related Disorders
  Tyrosinemia Type II (TAT)
  Tyrosinemia, Type 1

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U
  UGT1A1 Related Disorders
  Urea Cycle Disorders and Hyperammonemia (8 gene panel by NGS)
  Urinary Orotic Acid Analysis
  Usher Panel (9 gene panel by NGS)
  Usher Syndrome 2A
  Usher Syndrome 3A - CLRN1 Related
  Usher Syndrome Type 1C (USH1C)

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V
  VLCAD Deficiency (ACADVL)
  Von Hippel Lindau Syndrome
  VSX1 Related Disorders

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W
  White Blood Cell Cystine
  Wilson Disease (ATP7B)
  Wolcott-Rallison syndrome
  WT1 Related Disorders

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X
  X-Linked Severe Combined Immunodeficiency (IL2RG)

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Y

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Z

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