| 5-Fluorouracil Sensitivity |
| 2012166 |
Dihydropyrimidine Dehydrogenase (DPYD) Genotyping, 3 Mutations |
Additional Technical Information
|
| Achondroplasia |
| 0051266 |
Achondroplasia (FGFR3) 2 Mutations |
Additional Technical Information
GeneReviews |
| 0051265 |
Achondroplasia Mutation, Fetal |
|
| Acylcarnitine |
| 0081110 |
Carnitine Panel |
|
| 0040033 |
Acylcarnitine Quantitative Profile, Plasma |
|
| Acylglycine |
| 0081170 |
Acylglycine, Quantitative, Urine |
|
| Alpha Fetoprotein, Amniotic Fluid |
| 3000142 |
Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin |
|
| Alpha Thalassemia |
| 2011622 |
Alpha Globin (HBA1 and HBA2) Deletion/Duplication |
Additional Technical Information
GeneReviews: Beta-Thalassemia |
| 0051495 |
Alpha Thalassemia (HBA1 & HBA2) 7 Deletions |
Additional Technical Information
GeneReviews |
| 2011708 |
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| Alpha-1-Antitrypsin |
| 0051256 |
Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype |
Additional Technical Information
GeneReviews |
| Alport Syndrome |
| 2002398 |
Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051786 |
Alport Syndrome, X-linked (COL4A5) Sequencing |
|
| Alzheimer's Disease |
| 2013341 |
Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk |
Additional Technical Information
GeneReviews |
| Amino Acids |
| 2009389 |
Amino Acids Quantitative by LC-MS/MS, Plasma |
|
| 2009419 |
Amino Acids Quantitative by LC-MS/MS, Urine |
|
| 0080137 |
Amino Acids Quantitative, CSF |
|
| Angelman Syndrome |
| 2005077 |
Angelman Syndrome and Prader-Willi Syndrome by Methylation |
Additional Technical Information
GeneReviews |
| 2005564 |
Angelman Syndrome (UBE3A) Sequencing |
|
| 2012232 |
Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal |
|
| 2002299 |
Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13) |
|
| Aortopathies |
| 2005584 |
Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2005589 |
Marfan Syndrome (FBN1) Sequencing |
|
| 2006540 |
Aortopathy Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews: MFS
GeneReviews: TAAD
GeneReviews: LDS
GeneReviews: EDS IV
GeneReviews: CCA |
| 2002705 |
TGFBR1 & TGFBR2 Sequencing |
Additional Technical Information
|
| |
—see Loeys-Dietz Syndrome |
|
| |
—see Marfan Syndrome and FBN1-Related Disorders |
|
| Apolipoprotein B (APOB) |
| 0055654 |
Apolipoprotein B Mutation Detection (G9775A, C9774T) |
Additional Technical Information
|
| Apolipoprotein E (APOE) |
| 2013341 |
Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk |
Additional Technical Information
GeneReviews |
| 2013337 |
Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk |
|
| Ashkenazi Jewish Panel (16 disorders) |
| 0051415 |
Ashkenazi Jewish Diseases, 16 Genes |
Additional Technical Information
|
| 2013725 |
ABCC8-Related Hyperinsulinism, 3 Variants |
Additional Technical Information |
| 2013745 |
NEB-Related Nemaline Myopathy, 1 Variant |
Additional Technical Information |
| 0051433 |
Bloom Syndrome (BLM),1 Variant |
Additional Technical Information
GeneReviews |
| 0051453 |
Canavan Disease (ASPA), 4 Variants |
Additional Technical Information
GeneReviews |
| 0051463 |
Dysautonomia, Familial (IKBKAP), 2 Variants |
Additional Technical Information
GeneReviews |
| 0051468 |
Fanconi Anemia Group C, (FANCC), 2 Variants |
Additional Technical Information
GeneReviews |
| 2013740 |
Glycogen Storage Disease, Type 1A (G6PC), 9 Variants |
Additional Technical Information |
| 2013909 |
Joubert Syndrome Type 2 (TMEM216), 1 Variant |
Additional Technical Information |
| 2013735 |
Lipoamide Dehydrogenase Deficiency (DLD), 2 Variants |
Additional Technical Information |
| 2013730 |
Maple Syrup Urine Disease, Type 1B (BCKDHB), 3 Variants |
Additional Technical Information |
| 0051448 |
Mucolipidosis Type IV (MCOLN1), 2 Variants |
Additional Technical Information
GeneReviews |
| 0051458 |
Niemann-Pick, Type A (SMPD1), 4 Variants |
Additional Technical Information
GeneReviews |
| 0051428 |
Tay-Sachs Disease (HEXA), 7 Variants |
Additional Technical Information
GeneReviews |
| 2013750 |
Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants |
Additional Technical Information |
| 0051438 |
Gaucher Disease (GBA), 8 Variants |
|
| Autism |
| 2014314 |
Autism and Intellectual Disability Comprehensive Panel |
Patient History for Autism and Intellectual Disability |
| 2003414 |
Cytogenomic SNP Microarray |
Additional Technical Information
Patient History Form
Opt Out of Public Databases – Genetic Testing |
| 2006267 |
Cytogenomic SNP Microarray Buccal Swab |
Additional Technical Information
Patient History Form
ORAcollect Instructions
ORAcollect Instructions Video |
| 2014312 |
Autism and Intellectual Disability Metabolic Panel |
Patient History for Autism and Intellectual Disability |
| 2009353 |
Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood |
Additional Technical Information
Patient History Form |
| 0051614 |
Rett Syndrome (MECP2), Full Gene Analysis |
Additional Technical Information
GeneReviews |
| 2002470 |
PTEN-Related Disorders Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2004935 |
CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2005077 |
Angelman Syndrome and Prader-Willi Syndrome by Methylation |
Additional Technical Information
GeneReviews |
| 2005564 |
Angelman Syndrome (UBE3A) Sequencing |
|
| Beckwith-Wiedemann |
| 3001635 |
Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS) by Methylation-Specific MLPA |
Additional Technical Information
|
| Beta Globin |
| 0050388 |
Beta Globin (HBB) Sequencing, Fetal |
Additional Technical Information
|
| 2010117 |
Beta Globin (HBB) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews: Beta-Thalassemia |
| 2010113 |
Beta Globin (HBB) Deletion/Duplication |
Additional Technical Information
GeneReviews: Beta-Thalassemia |
| Biotinidase |
| 0093362 |
Biotinidase, Serum (with paired normal control) |
GeneReviews |
| Biotinidase Deficiency |
| 0051730 |
Biotinidase Deficiency (BTD) Sequencing |
Additional Technical Information
GeneReviews |
| Blood Genotyping |
| 0051368 |
Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) |
Additional Technical Information
|
| 3002002 |
RhC/c (RHCE) Antigen Genotyping |
Additional Technical Information
|
| 3002003 |
RhE/e (RHCE) Antigen Genotyping |
Additional Technical Information
|
| 3002001 |
Kell K/k Antigen (KEL) Genotyping |
Additional Technical Information
|
| 3001053 |
Red Blood Cell Antigen Genotyping |
Additional Technical Information
|
| Bloom Syndrome |
| 0051433 |
Bloom Syndrome (BLM),1 Variant |
Additional Technical Information
GeneReviews |
| BRAF |
| 2002498 |
BRAF codon 600 Mutation Detection by Pyrosequencing |
Additional Technical Information
|
| 2013921 |
BRAF V600E Mutation Detection in Circulating Cell-Free DNA by Digital Droplet PCR |
Additional Technical Information
|
| Breast Cancer |
| 2012026 |
Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 2011949 |
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2011954 |
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing |
Additional Technical Information
|
| 2002722 |
PTEN-Related Disorders Sequencing |
|
| 2002470 |
PTEN-Related Disorders Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2009313 |
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2009302 |
Li-Fraumeni (TP53) Sequencing |
GeneReviews |
| 2008398 |
Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2008394 |
Peutz-Jeghers Syndrome (STK11) Sequencing |
|
| CADASIL |
| 3000531 |
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL |
Additional Technical Information
Gene Review |
| Canavan Disease |
| 0051453 |
Canavan Disease (ASPA), 4 Variants |
Additional Technical Information
GeneReviews |
| Cancer, Hereditary |
| 2012032 |
Hereditary Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| Capillary Malformation-Arteriovenous Malformation |
| 3001132 |
Capillary Malformation-Arteriovenous Malformation (EPHB4 and RASA1) Sequencing and (RASA1) Deletion/Duplication |
Additional Technical Information
|
| 3001129 |
Capillary Malformation-Arteriovenous Malformation 2 (EPHB4) Sequencing |
Additional Technical Information
|
| 2007852 |
RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002730 |
RASA1-Related Disorders (RASA1) Sequencing |
Additional Technical Information
|
| Cardiomyopathy |
| 2010183 |
Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews: Hypertrophic Cardiomyopathy
GeneReviews: Dilated Cardiomyopathy
GeneReviews: CPVT
GeneReviews: Brugada
GeneReviews: LQTS |
| Carnitine |
| 0081110 |
Carnitine Panel |
|
| 0080068 |
Carnitine, Free and Total, Plasma |
|
| 0081308 |
Carnitine, Free and Total, Urine |
|
| 0080065 |
Carnitine, Free, Plasma |
|
| 0080067 |
Carnitine, Total, Plasma |
|
| Carnitine Deficiency |
| 2004203 |
Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 0051682 |
Carnitine Deficiency, Primary (SLC22A5) Sequencing |
|
| Carrier Screening Panels |
| 0051415 |
Ashkenazi Jewish Diseases, 16 Genes |
Additional Technical Information
|
| 3000258 |
Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation |
|
| 2014680 |
Expanded Carrier Screen by Next Generation Sequencing |
Additional Technical Information
|
| 2014677 |
Expanded Carrier Screen by Next Generation Sequencing with Fragile X |
Additional Technical Information |
| CDKL5-Related Disorders |
| 2004931 |
CDKL5-Related Disorders (CDKL5) Sequencing |
Additional Technical Information |
| 2004935 |
CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication |
Additional Technical Information
|
| Celiac Disease |
| 2005018 |
Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping |
Additional Technical Information
GeneReviews Do not use in the initial evaluation for celiac disease. Useful in ruling out celiac disease (CD) (high negative predictive value) in selective clinical situations such as:
• Equivocal small-bowel histologic finding (Marsh I-II) in seronegative individuals
• Evaluation of individuals on a gluten-free diet (GFD) in whom no testing for CD was done before GFD |
| Central Nervous System Cancer |
| 2002965 |
Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002970 |
Von Hippel-Lindau (VHL) Sequencing |
|
| 2012032 |
Hereditary Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 2009313 |
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2009302 |
Li-Fraumeni (TP53) Sequencing |
GeneReviews |
| Charcot-Marie-Tooth Disease |
| 2012160 |
Charcot-Marie-Tooth Type 1A (CMT1A)/Hereditary Neuropathy with Liability to Pressure Palsies (HNPP), PMP22 Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2012155 |
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/ Duplication with Reflex to Sequencing Panel |
|
| 2012151 |
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing |
|
| CHARGE Syndrome |
| 2012609 |
CHARGE Syndrome, CHD7 Sequencing |
Additional Technical Information
GeneReviews |
| 2012717 |
CHARGE Syndrome (CHD7) Sequencing, Fetal |
|
| Chimerism |
| 2002065 |
Chimerism, Recipient Pre-Transplant |
Additional Technical Information
|
| 2002067 |
Chimerism, Donor |
|
| 2002064 |
Chimerism, Post-Transplant, Sorted Cells |
|
| 2002066 |
Chimerism, Post-Transplant |
|
| Chronic Granulomatous Disease |
| 3000544 |
Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) |
Additional Technical Information
|
| 3000541 |
Chronic Granulomatous Disease, X-Linked (CYBB) Sequencing |
|
| 2006366 |
Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion |
|
| Citrin Deficiency |
| 2006261 |
Citrin Deficiency (SLC25A13) Sequencing |
Additional Technical Information
GeneReviews |
| Citrullinemia, Type I |
| 2007069 |
Citrullinemia, Type I (ASS1) Sequencing |
Additional Technical Information
GeneReviews |
| Cobalamin/Propionate/Homocysteine Metabolism Related Disorders |
| 2011157 |
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews: Methylmalonic Acidemia
GeneReviews: Propionic Acidemia
GeneReviews: Homocystinuria |
| Constitutional Chromosome Studies |
| 2002289 |
Chromosome Analysis, Peripheral Blood |
Patient History Form |
| 2002287 |
Chromosome Analysis, Rule Out Mosaicism |
Patient History Form |
| 2005763 |
Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray |
Patient History Form |
| 2009353 |
Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood |
Additional Technical Information
Patient History Form |
| 2002293 |
Chromosome Analysis, Amniotic Fluid |
Patient History Form |
| 2008367 |
Chromosome Analysis, Amniotic Fluid, with Reflex to Genomic Microarray |
Additional Technical Information
Patient History Form |
| 2011130 |
Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray |
Additional Technical Information
Patient History Form |
| 2002291 |
Chromosome Analysis, Chorionic Villus Sampling (CVS) |
Patient History Form |
| 2011131 |
Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray |
Additional Technical Information
Patient History Form |
| 2002288 |
Chromosome Analysis, Products of Conception |
Patient History Form |
| 2005762 |
Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray |
Patient History Form |
| 2002286 |
Chromosome Analysis, Skin Biopsy |
Patient History Form |
| 0097688 |
Chromosome Analysis—Breakage, Fanconi Anemia |
Patient History Form |
| Creatine |
| 2008610 |
Creatine Transporter Deficiency (SLC6A8) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2008615 |
Creatine Transporter Deficiency (SLC6A8) Sequencing |
Additional Technical Information |
| 2011140 |
Guanidinoacetate Methyltransferase (GAMT) Deficiency Sequencing |
Additional Technical Information
GeneReviews |
| 2011144 |
Arginine:Glycine Amidinotransferase (GATM) Deficiency Sequencing |
Additional Technical Information
GeneReviews |
| 2002328 |
Creatine Disorders Panel, Plasma or Serum |
Additional Technical Information |
| 2002333 |
Creatine Disorders Panel, Urine |
Additional Technical Information |
| Cystic Fibrosis |
| 0051110 |
Cystic Fibrosis (CFTR) Sequencing |
Additional Technical Information
CF Test Comparison Chart |
| 0051640 |
Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication |
Additional Technical Information
CF Test Comparison Chart |
| 2013661 |
Cystic Fibrosis (CFTR), 165 Pathogenic Variants |
|
| 2013662 |
Cystic Fibrosis (CFTR), 165 Pathogenic Variants, Fetal |
|
| 2013663 |
Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing |
|
| 2013664 |
Cystic Fibrosis (CFTR), 165 Variants with Reflex to Sequencing and Reflex to Deletion/Duplication |
|
| Cystine |
| 0081105 |
Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine |
|
| 0081106 |
Cystine Quantitative, Urine |
|
| Cytochrome P450 |
| 3001524 |
Cytochrome P450 Genotyping Panel (includes variants covered in the 2C19GENO, 2C8/2C9, 2D6GENO, 3A4/3A5) |
Additional Technical Information
|
| 3001508 |
CYP2C19 |
Additional Technical Information
|
| 3001501 |
CYP2C8 and CYP2C9 |
Additional Technical Information
|
| 3001513 |
CYP2D6 |
Additional Technical Information
|
| 3001518 |
CYP3A4 and CYP3A5 |
Additional Technical Information
|
| Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) |
| 0080351 |
Ehlers-Danlos Syndrome Type VI Screen, Urine |
Additional Technical Information
GeneReviews |
| 2005559 |
Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication |
Additional Technical Information
|
| Endocrine Cancer |
| 2005360 |
Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication |
Additional Technical Information
Gene Tests Review |
| 2005359 |
Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing |
|
| 0051390 |
Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing |
Additional Technical Information
GeneReviews |
| 2002965 |
Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002970 |
Von Hippel-Lindau (VHL) Sequencing |
|
| 2007167 |
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel |
Additional Technical Information
GeneReviews |
| 2012032 |
Hereditary Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 2006948 |
SDHB with Interpretation by Immunohistochemistry |
|
| 2011461 |
Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing |
Additional Technical Information |
| 2007108 |
Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2007117 |
Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2002722 |
PTEN-Related Disorders Sequencing |
|
| 2007122 |
Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2002470 |
PTEN-Related Disorders Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2009313 |
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2009302 |
Li-Fraumeni (TP53) Sequencing |
GeneReviews |
| Epilepsy |
| 2007545 |
Childhood-Onset Epilepsy Panel, Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2007535 |
Infantile-Onset Epilepsy Panel, Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2013352 |
Pyridoxine-Dependent Epilepsy Panel, Serum or Plasma |
|
| 2013355 |
Pyridoxine-Dependent Epilepsy Panel, Urine |
|
| Exome |
| 2006336 |
Exome Sequencing, Proband |
|
| 2006332 |
Exome Sequencing, Trio |
Additional Technical Information
Patient History and Informed Consen |
| 3001457 |
Exome Reanalysis (Originally Test at ARUP - No Specimen Required) |
Additional Technical Information
|
| Fabry Disease |
| 2003204 |
Alpha-Galactosidase, Serum |
|
| Factor V Leiden |
| 0030192 |
APC Resistance Profile with Reflex to Factor V Leiden |
GeneReviews |
| 0097720 |
Factor V Leiden (F5) R506Q Mutation |
Additional Technical Information
|
| 2001549 |
Factor V, R2 Mutation |
Additional Technical Information
|
| Factor XIII (F13A1) V34L Variant |
| 2003220 |
Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) |
Additional Technical Information
|
| Familial Adenomatous Polyposis |
| 2004915 |
Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations |
Additional Technical Information
GeneReviews |
| 2004863 |
Familial Adenomatous Polyposis (APC) Sequencing |
|
| 2006191 |
MUTYH-Associated Polyposis (MUTYH) Sequencing |
|
| Familial Dysautonomia |
| 0051463 |
Dysautonomia, Familial (IKBKAP), 2 Variants |
Additional Technical Information
GeneReviews |
| Familial Mediterranean Fever (MEFV) |
| 2002658 |
Familial Mediterranean Fever (MEFV) Sequencing |
Additional Technical Information
GeneReviews |
| Familial Mutation Testing |
| 2001961 |
Familial Mutation, Targeted Sequencing |
The following genes are available:
ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF
|
| 2001980 |
Familial Mutation, Targeted Sequencing, Fetal |
|
| Familial Transthyretin Amyloidosis (TTR) |
| 2014035 |
Familial Transthyretin Amyloidosis (TTR) |
Additional Technical Information
GeneReviews |
| Fanconi Anemia Group C |
| 0051468 |
Fanconi Anemia Group C, (FANCC), 2 Variants |
Additional Technical Information
GeneReviews |
| Fatty Acids |
| 2013518 |
Fatty Acids Profile, Essential Serum or Plasma |
|
| FISH (Constitutional)—Aneuploidy Panels |
| 0040208 |
Aneuploidy Panel by FISH (13, 18, 21, X, & Y—newborn whole blood) |
Patient History Form |
| 0040203 |
Chorionic Villus, FISH (13, 18, 21, X, & Y—CVS) |
Patient History Form |
| 2011130 |
Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray |
Additional Technical Information
Patient History Form |
| 2002297 |
Chromosome FISH, Prenatal (13, 18, 21, X, & Y—Amniotic Fluid) |
Patient History Form |
| 2011131 |
Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray |
Additional Technical Information
Patient History Form |
| FISH (Constitutional)—Aneuploidy Panels with Reflex Testing |
| 2011130 |
Chromosome FISH, Amniotic Fluid with Reflex to Chromosome Analysis or Genomic Microarray |
Additional Technical Information
Patient History Form |
| 2011131 |
Chromosome FISH, CVS with Reflex to Chromosome Analysis or Genomic Microarray |
Additional Technical Information
Patient History Form |
| FISH (Constitutional)—Individual Metaphase Probes |
| 2002299 |
Chromosome FISH, Metaphase—15q11.2-13 duplication (15q11.2-13) |
Constitutional FISH Probes
Patient History Form |
| 2002299 |
Chromosome FISH, Metaphase—Cri-du-chat (5p-) syndrome (5p15.2) |
|
| 2002299 |
Chromosome FISH, Metaphase—DiGeorge/Velocardiofacial (VCF) syndrome (22q11.2) |
|
| 2002299 |
Chromosome FISH, Metaphase—Kallmann syndrome (Xp22.3) |
|
| 2002299 |
Chromosome FISH, Metaphase—Miller-Dieker (Lisencephaly) syndrome (17p13.3) |
|
| 2002299 |
Chromosome FISH, Metaphase—Phelan McDermid (22qter) syndrome (22q13.3) |
|
| 2002299 |
Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13) |
|
| 2002299 |
Chromosome FISH, Metaphase—SHOX (Xp22.3) |
|
| 2002299 |
Chromosome FISH, Metaphase—Smith-Magenis syndrome (17p11.2) |
|
| 2002299 |
Chromosome FISH, Metaphase—SRY/male detection (Yp11.3) |
|
| 2002299 |
Chromosome FISH, Metaphase—Steroid sulfatase deficiency (STS) (Xp22.3) |
|
| 2002299 |
Chromosome FISH, Metaphase—Williams (elastin) syndrome (7q11.23) |
|
| 2002299 |
Chromosome FISH, Metaphase—Wolf-Hirschhorn (4p-) syndrome (4p16.3) |
|
| 2002299 |
Chromosome FISH, Metaphase—Yq12 |
|
| 2002299 |
Chromosome FISH, Metaphase—Angelman syndrome (15q11.2-13) |
|
| FISH (Constitutional)—Individual Interphase Probes |
| 2002298 |
Chromosome FISH, Interphase—X centromere |
|
| 2002298 |
Chromosome FISH, Interphase—Y centromere |
|
| Fragile X |
| 2009033 |
Fragile X (FMR1) with Reflex to Methylation Analysis |
Additional Technical Information
|
| 2009034 |
Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal |
|
| G6PD Deficiency |
| 2007163 |
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing |
Additional Technical Information |
| 0051684 |
Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) |
|
| Galactosemia |
| 3001790 |
Galactose-1-Phosphate Enzyme Activity |
|
| 0051175 |
Galactosemia, (GALT) Enzyme Activity & 9 Mutations |
Additional Technical Information
GeneReviews |
| 0051176 |
Galactosemia, (GALT) 9 Mutations |
|
| 0081296 |
Galactose-1-Phosphate in Red Blood Cells |
|
| 2006697 |
GALT (Galactosemia) Sequencing |
Additional Technical Information |
| 0051270 |
Galactosemia, (GALT ) 9 Mutations, Fetal |
|
| Gastrointestinal Cancer |
| 0051750 |
BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation |
Additional Technical Information
|
| 2002499 |
MLH1 Promoter Methylation, Paraffin |
Additional Technical Information |
| 0049302 |
Mismatch Repair by Immunohistochemistry |
Additional Technical Information |
| 0051740 |
Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR |
Additional Technical Information |
| 2005270 |
Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation |
Additional Technical Information |
| 2004915 |
Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations |
Additional Technical Information
GeneReviews |
| 2004863 |
Familial Adenomatous Polyposis (APC) Sequencing |
|
| 2006191 |
MUTYH-Associated Polyposis (MUTYH) Sequencing |
|
| 2004992 |
Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication |
|
| 2004988 |
Juvenile Polyposis (BMPR1A) Sequencing |
|
| 2013449 |
Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 2012032 |
Hereditary Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 0051650 |
HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051654 |
HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 0051656 |
HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 0051737 |
HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2009313 |
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2001971 |
Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2001728 |
HNPCC/Lynch Syndrome Deletion/Duplication |
Additional Technical Information |
| 2009302 |
Li-Fraumeni (TP53) Sequencing |
GeneReviews |
| 0051510 |
Juvenile Polyposis (SMAD4) Sequencing |
|
| 2008398 |
Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2008394 |
Peutz-Jeghers Syndrome (STK11) Sequencing |
|
| Gaucher Disease |
| 3001648 |
Gaucher Disease (GBA) Sequencing |
Additional Technical Information
GeneReviews |
| 0051438 |
Gaucher Disease (GBA), 8 Variants |
|
| 2014459 |
Gaucher Disease (GBA), Enzyme Activity in Leukocytes |
|
| Genomic Microarray |
| 2003414 |
Cytogenomic SNP Microarray |
Additional Technical Information
Patient History Form
Opt Out of Public Databases – Genetic Testing |
| 2006267 |
Cytogenomic SNP Microarray Buccal Swab |
Additional Technical Information
Patient History Form
ORAcollect Instructions
ORAcollect Instructions Video |
| 2009353 |
Cytogenomic SNP Microarray with Five-Cell Chromosome Study, Peripheral Blood |
Additional Technical Information
Patient History Form |
| 2006325 |
Cytogenomic SNP Microarray—Oncology |
Additional Technical Information |
| 2002366 |
Cytogenomic SNP Microarray—Fetal |
Additional Technical Information
Patient History Form |
| 2005633 |
Genomic SNP Microarray, Products of Conception |
Additional Technical Information
Patient History Form |
| 2010795 |
Cytogenomic Molecular Inversion Probe Array, FFPE Tissue - Products of Conception |
Additional Technical Information
Patient History Form |
| Genomic Microarray (FISH) |
| 3001313 |
MET Gene Amplification by FISH |
Additional Technical Information
|
| GLI3-Related Disorders |
| 2011465 |
GLI3-Related Disorders (GLI3) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2011470 |
GLI3-related disorders (GLI3) Sequencing |
|
| Glutarylcarnitine |
| 2001510 |
Glutarylcarnitine, Quantitative, Urine |
|
| Hearing Loss |
| 2001992 |
Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations |
Additional Technical Information
GeneReviews: Nonsyndromic Hearing Loss |
| 0051374 |
Connexin 26 (GJB2) Sequencing |
Additional Technical Information
GeneReviews: DFNB1 Autosomal Recessive
GeneReviews: DFNA3 Autosomal Dominant |
| 2001956 |
Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions |
Additional Technical Information |
| 2008803 |
Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews: Deafness and Hereditary Hearing Loss |
| Hemoglobin Lepore |
| 2004686 |
Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations |
Additional Technical Information
|
| Hemoglobinopathies |
| 2005792 |
Hemoglobin Evaluation Reflexive Cascade |
Additional Technical Information
|
| 0050578 |
Beta Globin (HBB) Gene Sequencing |
Additional Technical Information
GeneReviews |
| 2010117 |
Beta Globin (HBB) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews: Beta-Thalassemia |
| 0050388 |
Beta Globin (HBB) Sequencing, Fetal |
Additional Technical Information
GeneReviews: Beta-Thalassemia |
| 2010113 |
Beta Globin (HBB) Deletion/Duplication |
Additional Technical Information
GeneReviews: Beta-Thalassemia |
| 2011622 |
Alpha Globin (HBA1 and HBA2) Deletion/Duplication |
Additional Technical Information
GeneReviews: Beta-Thalassemia |
| 0051495 |
Alpha Thalassemia (HBA1 & HBA2) 7 Deletions |
Additional Technical Information
GeneReviews |
| 3001957 |
Gamma Globin (HBG1 and HBG2) Sequencing |
Additional Technical Information
|
| 2004686 |
Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations |
Additional Technical Information
|
| 0050610 |
Hemoglobin Evaluation with Reflex to Electrophoresis and/or RBC Solubility |
Additional Technical Information
|
| 0050520 |
Hemoglobin S, Evaluation with Reflex to RBC Solubility |
|
| 2013399 |
Hemoglobin S, Sickle Solubility |
|
| 2002984 |
Oxygen Dissociation (P50) by Hemoximetry |
|
| 0049090 |
Heinz Body Stain |
|
| 2005757 |
Carboxyhemoglobin Quantitation, Whole Blood by Co-Oximetry |
|
| 0049020 |
Hemoglobin, Unstable |
|
| 2004686 |
Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations |
Additional Technical Information
|
| Hemophilia A |
| 2001614 |
Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2001759 |
Hemophilia A (F8) 2 Inversions |
Additional Technical Information
|
| 2001747 |
Hemophilia A (F8) Sequencing |
Additional Technical Information
|
| 2001755 |
Hemophilia A (F8) 2 Inversions, Fetal |
Additional Technical Information
|
| Hemophilia B |
| 2001578 |
Hemophilia B (F9) Sequencing |
Additional Technical Information
GeneReviews |
| 2010494 |
Hemophilia B (F9) Sequencing and Deletion/Duplication |
Additional Technical Information
|
| Hemophilias |
| 2001614 |
Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2001759 |
Hemophilia A (F8) 2 Inversions |
Additional Technical Information
|
| 2001747 |
Hemophilia A (F8) Sequencing |
Additional Technical Information
|
| 2001755 |
Hemophilia A (F8) 2 Inversions, Fetal |
Additional Technical Information
|
| 2001578 |
Hemophilia B (F9) Sequencing |
Additional Technical Information
GeneReviews |
| 2005480 |
von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons |
Additional Technical Information
GeneReviews |
| 2005494 |
von Willebrand Disease, Type 2N (VWF) Sequencing |
|
| 2005490 |
von Willebrand Disease, Type 2M (VWF) Sequencing |
|
| 2005486 |
von Willebrand Disease, Type 2B (VWF) Sequencing |
|
| 2005476 |
von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations |
|
| 2010494 |
Hemophilia B (F9) Sequencing and Deletion/Duplication |
Additional Technical Information
|
| Hereditary Hemochromatosis |
| 0055656 |
Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) |
Additional Technical Information
GeneReviews |
| Hereditary Hemolytic Anemia |
| 2012052 |
Hereditary Hemolytic Anemia Panel, Sequencing |
Additional Technical Information
|
| Hereditary Hemorrhagic Telangiectasia (HHT) |
| 2009337 |
Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication |
|
| 2009008 |
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051382 |
ACVRL1 and ENG Sequencing and Deletion/Duplication |
|
| 0051381 |
ACVRL1 and ENG Sequencing |
|
| 2001971 |
Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051510 |
Juvenile Polyposis (SMAD4) Sequencing |
|
| 2010015 |
Telangiectasia Syndrome (BMP9/GDF2) Sequencing |
Additional Technical Information
|
| 2007384 |
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes |
Additional Technical Information
|
| 2007390 |
Vascular Malformations Sequencing, 10 Genes |
|
| 2007380 |
Vascular Malformations Deletion/Duplication, 10 Genes |
|
| Hereditary Non-Polyposis Colon Cancer (HNPCC) |
| 0051750 |
BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation |
Additional Technical Information
|
| 2002499 |
MLH1 Promoter Methylation, Paraffin |
Additional Technical Information |
| 0051650 |
HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051654 |
HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 0051656 |
HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 0051737 |
HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2001728 |
HNPCC/Lynch Syndrome Deletion/Duplication |
Additional Technical Information |
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
| 2007167 |
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel |
Additional Technical Information
GeneReviews |
| 2006948 |
SDHB with Interpretation by Immunohistochemistry |
|
| 2011461 |
Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing |
Additional Technical Information |
| 2007108 |
Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2007117 |
Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2007122 |
Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication |
Additional Technical Information |
| HLA Testing |
| 2011264 |
HLA Class I Panel (ABC) by NGS |
|
| 2011272 |
HLA Class II (DRB1 and DQB1) by NGS |
|
| 2012482 |
HLA-A by Next Generation Sequencing |
|
| 2012486 |
HLA-B by Next Generation Sequencing |
|
| 2012490 |
HLA-C by Next Generation Sequencing |
|
| 2012494 |
HLA-DRB1 by Next Generation Sequencing |
|
| 2012498 |
HLA-DQB1 by Next Generation Sequencing |
|
| 2012502 |
HLA-DPB1 by Next Generation Sequencing |
|
| HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping |
| 2012049 |
HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity |
Additional Technical Information
|
| HLA-B*5701 (Abacavir Sensitivity) Genotyping |
| 2002429 |
HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity |
Additional Technical Information
|
| HLA-B*58:01 (Allopurinol Hypersensitivity) Genotyping |
| 3001393 |
HLA-B*58:01 Genotyping, Allopurinol Hypersensitivity |
Additional Technical Information
|
| HLA-B27 (Ankylosing Spondylitis) Genotyping |
| 0050392 |
Ankylosing Spondylitis (HLA-B27) Genotyping |
Additional Technical Information
|
| Holoprosencephaly |
| 2008848 |
Holoprosencephaly Panel, Sequencing and Deletion/Duplication |
|
| 2008863 |
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal |
Additional Technical Information
GeneReviews |
| Huntington Disease |
| 0040018 |
Huntington Disease (HD) Mutation by PCR |
Additional Technical Information
GeneReviews |
| Hypochondroplasia |
| 0051367 |
Hypochondroplasia (FGFR3) 2 Mutations |
Additional Technical Information
GeneReviews |
| Insulin Resistance Syndromes |
| 2006274 |
Inherited Insulin Resistance Syndromes (INSR) Sequencing |
Additional Technical Information |
| Interleukin 28 B Associated SNP—Genotyping |
| 2004680 |
Interleukin 28 B (IL28B)—Associated Variants, 2SNPs |
Additional Technical Information
|
| Juvenile Polyposis |
| 2004992 |
Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication |
|
| 2004988 |
Juvenile Polyposis (BMPR1A) Sequencing |
|
| 2001971 |
Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051510 |
Juvenile Polyposis (SMAD4) Sequencing |
|
| Kabuki Syndrome |
| 2009306 |
Kabuki Syndrome (KMT2D) Sequencing |
Additional Technical Information
|
| Kell Antigen Genotyping |
| 3002001 |
Kell K/k Antigen (KEL) Genotyping |
Additional Technical Information
|
| Legius Syndrome |
| 2008347 |
Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002945 |
Legius Syndrome (SPRED1) Sequencin |
GeneReviews |
| Li-Fraumeni Syndrome |
| 2009313 |
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2009302 |
Li-Fraumeni (TP53) Sequencing |
GeneReviews |
| LMNA–Related Disorders |
| 2004543 |
LMNA-Related Disorders (LMNA) Sequencing |
Additional Technical Information
GeneReviews: Hutchinson-Gilford Progeria Syndrome
GeneReviews: Emery-Dreifuss Muscular Dystrophy
GeneReviews: Limb-Girdle Muscular Dystrophy Overview
GeneReviews: Charcot-Marie-Tooth Neuropathy Type 2
GeneReviews: Dilated Cardiomyopathy Overview |
| 2004539 |
LMNA-Related Disorders (LMNA) Deletion/Duplication |
Additional Technical Information
GeneReviews: Emery-Dreifuss Muscular Dystrophy
GeneReviews: Limb-Girdle Muscular Dystrophy Overview
GeneReviews: Charcot-Marie-Tooth Neuropathy Type 2
GeneReviews: Dilated Cardiomyopathy Overview |
| Loeys-Dietz Syndrome |
| 2002705 |
TGFBR1 & TGFBR2 Sequencing |
Additional Technical Information
|
| Lynch Syndrome |
| 0051750 |
BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation |
Additional Technical Information
|
| 2002499 |
MLH1 Promoter Methylation, Paraffin |
Additional Technical Information |
| 0049302 |
Mismatch Repair by Immunohistochemistry |
Additional Technical Information |
| 0051740 |
Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR |
Additional Technical Information |
| 2005270 |
Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation |
Additional Technical Information |
| 0051650 |
HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051654 |
HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 0051656 |
HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 0051737 |
HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2001728 |
HNPCC/Lynch Syndrome Deletion/Duplication |
Additional Technical Information |
| Lysosomal Acid Lipase |
| 2012266 |
Lysosomal Acid Lipase Activity, Dried Blood Spot |
|
| Marfan Syndrome and Marfan/FBN1-Related Disorders |
| 2005584 |
Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2005589 |
Marfan Syndrome (FBN1) Sequencing |
|
| Medium Chain Acyl-CoA Dehydrogenase (MCAD) |
| 0051205 |
Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations |
Additional Technical Information
GeneReviews |
| 0051758 |
Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing |
Additional Technical Information |
| Menkes and Occipital Horn Syndromes |
| 2007872 |
ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing |
|
| Methylenetetrahydrofolate Reductase (MTHFR) |
| 0055655 |
Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations |
Additional Technical Information
|
| Methylmalonic Acid |
| 2005255 |
Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) |
GeneReviews: Intracellular Cobalamin Metabolism
GeneReviews: Methylmalonic Acidemia |
| Microsatellite Instability (MSI) |
| 0049302 |
Mismatch Repair by Immunohistochemistry |
Additional Technical Information |
| 0051740 |
Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR |
Additional Technical Information |
| 2005270 |
Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation |
Additional Technical Information |
| Molar Pregnancy |
| 0051755 |
Molar Pregnancy, 16 DNA Markers |
|
| Mucolipidosis IV |
| 2012259 |
Keratan Sulfate, Quantitative by LC-MS/MS, Urine |
|
| 0051448 |
Mucolipidosis Type IV (MCOLN1), 2 Variants |
Additional Technical Information
GeneReviews |
| Mucopolysaccharidoses (MPS) |
| 0081352 |
Mucopolysaccharides Electrophoresis and Quantitation, Urine |
GeneReviews (MPS I)
GeneReviews (MPS II) |
| 0081357 |
Mucopolysaccharides, Quantitative, Urine |
|
| 2011415 |
Alpha-Iduronidase Enzyme Activity in Leukocytes |
Additional Technical Information
GeneReviews |
| 2007599 |
Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma |
|
| 2007488 |
Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro) Quantitative, Urine |
|
| 2008775 |
Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Serum or Plasma |
|
| 2009282 |
Mucopolysaccharidosis Type II, Total HS and NRE (Sensi-Pro) Quantitative, Urine |
|
| Multiple Endocrine Neoplasia Type 1 (MEN1) |
| 2005360 |
Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication |
Additional Technical Information
Gene Tests Review |
| 2005359 |
Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing |
|
| Multiple Endocrine Neoplasia Type 2 (MEN2) |
| 0051390 |
Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing |
Additional Technical Information
GeneReviews |
| Muscular Dystrophy |
| 2011241 |
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing |
Additional Technical Information
GeneReviews |
| 2011235 |
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2011153 |
Duchenne/Becker Muscular Dystrophy (DMD) Sequencing |
Additional Technical Information
GeneReviews |
| 2011231 |
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal |
Additional Technical Information
GeneReviews |
| 3001907 |
Myotonic Dystrophy Type 1 (DMPK) CTG Expansion |
Additional Technical Information
GeneReviews |
| Narcolepsy |
| 2005023 |
Narcolepsy (HLA-DQB1*06:02) Genotyping |
Additional Technical Information
|
| Neurodegenerative Disorders |
| 3001585 |
Early-Onset Alzheimer's Panel, Sequencing |
Additional Technical Information
|
| Neurofibromatosis Type 1 |
| 2007154 |
Neurofibromatosis Type 1 (NF1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2007159 |
Neurofibromatosis Type 1 (NF1) Sequencing |
|
| 2001952 |
Neurofibromatosis Type 1 (NF1) Deletion/Duplication |
Additional Technical Information |
| Niemann-Pick Disease Type A |
| 0051458 |
Niemann-Pick, Type A (SMPD1), 4 Variants |
Additional Technical Information
GeneReviews |
| Non-Alcoholic Fatty Liver Disease |
| 2014599 |
Non-Alcoholic Fatty Liver Disease Susceptibility (PNPLA3) Genotyping |
Additional Technical Information
|
| Non-Invasive Prenatal Testing (Cell-Free DNA) |
| 2007537 |
Non-Invasive Prenatal Testing for Fetal Aneuploidy |
Additional Technical Information
Patient History Form
Consent Form |
| 2013142 |
Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion |
Additional Technical Information |
| 2010232 |
Non-Invasive Prenatal Testing for Fetal Aneuploidy with Microdeletions |
Additional Technical Information
Patient History Form
Consent Form |
| Noonan Syndrome |
| 0051805 |
Noonan Syndrome (PTPN11) Sequencing |
Additional Technical Information
|
| 2004189 |
Noonan Syndrome (PTPN11) Sequencing with Reflex to (SOS1) Sequencing |
Additional Technical Information
GeneReviews |
| 2004195 |
Noonan Syndrome (SOS1) Sequencing |
Additional Technical Information
|
| 2010772 |
Noonan Spectrum Disorders Panel, Sequencing |
Additional Technical Information
GeneReviews |
| 2010769 |
Noonan Spectrum Disorders Panel, Sequencing, Fetal |
Additional Technical Information
GeneReviews |
| Oncology Studies |
| 2002292 |
Chromosome Analysis, Bone Marrow |
|
| 2002290 |
Chromosome Analysis, Leukemic Blood |
|
| 2007130 |
Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray |
|
| 2007131 |
Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray |
|
| 2002300 |
Chromosome Analysis, Lymph Node |
|
| 2002296 |
Chromosome Analysis, Solid Tumor |
|
| Oncology Studies, FISH—Blood and Bone Marrow Panels |
| 2002647 |
Acute Lymphocytic Leukemia (ALL) Panel by FISH, Adult |
Additional Technical Information
|
| 2002719 |
Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric |
Additional Technical Information
|
| 2002653 |
Acute Myelogenous Leukemia (AML) with Myelodysplastic Syndrome (MDS), or Therapy-Related AML, by FISH |
Additional Technical Information
|
| 2011132 |
Acute Myelogenous Leukemia Panel by FISH |
Additional Technical Information
|
| 2002295 |
Chromosome FISH, CLL Panel |
Additional Technical Information
|
| 2006270 |
Chromosome FISH, Multiple Myeloma Panel Process and Hold |
|
| 2002378 |
Eosinophilia Panel by FISH |
Additional Technical Information
|
| 2002650 |
Lymphoma (Aggressive) Panel by FISH |
Additional Technical Information |
| 2002294 |
Multiple Myeloma Panel by FISH |
Additional Technical Information
|
| 2002709 |
Myelodysplastic Syndrome (MDS) Panel by FISH |
Additional Technical Information
|
| 2002360 |
Myeloproliferative Disorders Panel by FISH |
Additional Technical Information
|
| 2002363 |
PML/RARα Translocation by FISH |
Additional Technical Information
|
| Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe |
| 2011132 |
Acute Myelogenous Leukemia Panel by FISH |
Additional Technical Information
|
| 2002298 |
Chromosome FISH, Interphase—ASS1; +9/9q34 |
|
| 2002298 |
Chromosome FISH, Interphase—ATM; del(11)(q22.3) |
|
| 2002298 |
Chromosome FISH, Interphase—BCL6; 3q27 |
|
| 2002298 |
Chromosome FISH, Interphase—BCR-ABL1; t(9;22)(q34;q11.2) |
|
| 2002298 |
Chromosome FISH, Interphase—CBFB; inv(16)(p13.3q22)/t(16;16)(p13;q22) |
|
| 2002298 |
Chromosome FISH, Interphase—CCND1-IGH@; t(11;14)(q13;q32) |
|
| 2002298 |
Chromosome FISH, Interphase—Chromosome 10, centromere |
|
| 2002298 |
Chromosome FISH, Interphase—Chromosome 4, centromere |
|
| 2002298 |
Chromosome FISH, Interphase—Chromosome 8, centromere |
|
| 2002298 |
Chromosome FISH, Interphase—CKS1B; 1q21 |
|
| 2002298 |
Chromosome FISH, Interphase—D12Z3; +12 |
|
| 2002298 |
Chromosome FISH, Interphase—D13S319; del(13)(q14.3) |
|
| 2002298 |
Chromosome FISH, Interphase—D20S108; del(20)(q12) |
|
| 2002298 |
Chromosome FISH, Interphase—D7S486; del(7)(q31)/-7 |
|
| 2002298 |
Chromosome FISH, Interphase—DDIT3 (CHOP); 12q13 |
|
| 2002298 |
Chromosome FISH, Interphase—EGR1; del(5)(q31) |
|
| 2002298 |
Chromosome FISH, Interphase—ETV6-RUNX1 (TEL-AML1); t(12;21)(p13;q22) |
|
| 2002298 |
Chromosome FISH, Interphase—EWSR1; 22q12.2 |
|
| 2002298 |
Chromosome FISH, Interphase—FGFR1; 8p12 |
|
| 2002298 |
Chromosome FISH, Interphase—FGFR3-IGH@; t(4;14)(p16;q32) |
|
| 2002298 |
Chromosome FISH, Interphase—IGH@-BCL2; t(14;18)(q32;q21) |
|
| 2002298 |
Chromosome FISH, Interphase—IGH@-MAF; t(14;16)(q32;q23.1) |
|
| 2002298 |
Chromosome FISH, Interphase—IGH@; 14q32 |
|
| 2002298 |
Chromosome FISH, Interphase—MALT1; 18q21 |
|
| 2002298 |
Chromosome FISH, Interphase—MLL; 11q23 |
|
| 2002298 |
Chromosome FISH, Interphase—MYC; 8q24 |
|
| 2002298 |
Chromosome FISH, Interphase—PDGFRα-CHIC2-FIP1L1; 4q12 |
|
| 2002298 |
Chromosome FISH, Interphase—PDGFRβ; 5q32 |
|
| 2002298 |
Chromosome FISH, Interphase—PML-RARA; t(15;17)(q22;q21) |
|
| 2002298 |
Chromosome FISH, Interphase—PML; +15 |
|
| 2002298 |
Chromosome FISH, Interphase—RUNX1T1-RUNX1 (ETO-AML1); t(8;21)(q22;q22) |
|
| 2002298 |
Chromosome FISH, Interphase—SS18 (SYT); 18q11.2 |
|
| 2002298 |
Chromosome FISH, Interphase—TCF3 (E2A); 19p13 |
|
| 2002298 |
Chromosome FISH, Interphase—TP53 (p53); del(17)(p13.1) |
|
| Oncology Studies, FISH—Other |
| 2002528 |
Pancreatobiliary FISH |
|
| 2001181 |
UroVysion FISH |
Additional Technical Information
Cytopathology Collection Instructions |
| Oncology Studies, FISH—Paraffin Block |
| 3001309 |
1p/19q Deletion by FISH |
Additional Technical Information |
| 2008603 |
ERBB2 (HER-2/neu) Gene Amplification by FISH, Tissue |
Additional Technical Information
|
| 2007227 |
MYCN (N-MYC) Gene Amplification by FISH |
Additional Technical Information |
| 3001303 |
SS18 (SYT) (18q11) Gene Rearrangement by FISH |
Additional Technical Information |
| 3001495 |
Aggressive B-Cell Lymphoma Reflex Panel by FISH, Tissue |
Additional Technical Information |
| 3001304 |
DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH |
Additional Technical Information |
| 3001310 |
EGFR Gene Amplification by FISH |
Additional Technical Information |
| 3001305 |
EWSR1 (22q12) Gene Rearrangement by FISH |
Additional Technical Information |
| 3001297 |
FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH |
Additional Technical Information |
| 3001298 |
IGH-BCL2 Fusion, t(14;18) by FISH for Detection in Follicular Lymphoma |
Additional Technical Information |
| 3001306 |
IGH-CCND1 Fusion, t(11;14) by FISH |
Additional Technical Information |
| 3001299 |
IGH-MYC Fusion t(8;14) by FISH |
Additional Technical Information |
| 3001301 |
MDM2 Gene Amplification by FISH |
Additional Technical Information |
| 3001300 |
MYC (8q24) Gene Rearrangement by FISH |
Additional Technical Information |
| Oncology Studies, Microarray |
| 2007130 |
Bone Marrow, Chromosome Analysis with Reflex to Genomic Microarray |
|
| 2007131 |
Leukemic Blood, Chromosome Analysis with Reflex to Genomic Microarray |
|
| 2010229 |
Cytogenomic Molecular Inversion Probe Array, Copy Number and Heterozygosity Assessment - Formalin-Fixed Paraffin-Embedded (FFPE) Tissue |
|
| 2006325 |
Cytogenomic SNP Microarray—Oncology |
Additional Technical Information |
| 2012182 |
Myeloid Malignancies Somatic Mutation and Copy Number Analysis Panel |
Additional Technical Information
|
| Opioid Receptor, Mu |
| 2008767 |
Opioid Receptor, Mu (OPRM1) Genotype, 1 Variant |
Additional Technical Information |
| Organic Acids |
| 0098389 |
Organic Acids, Urine |
Information by Analyte |
| 0099289 |
Organic Acids, Plasma |
|
| Ornithine Transcarbamylase Deficiency |
| 2004896 |
Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2004901 |
Ornithine Transcarbamylase Deficiency (OTC) Sequencing |
|
| Orotic Acid |
| 3000704 |
Orotic Acid, Urine |
Additional Technical Information
GeneReviews |
| Ovarian Cancer |
| 2012026 |
Hereditary Breast and Ovarian Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 2011949 |
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2011954 |
Breast and Ovarian Hereditary Cancer Syndrome (BRCA1 and BRCA2) Sequencing |
Additional Technical Information
|
| 0051650 |
HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051654 |
HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 0051656 |
HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 0051737 |
HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication |
Additional Technical Information |
| 2001728 |
HNPCC/Lynch Syndrome Deletion/Duplication |
Additional Technical Information |
| Pancreatitis |
| 2010876 |
Pancreatitis, Panel (CFTR, CTRC, PRSS1, SPINK1) Sequencing |
Additional Technical Information
|
| 3001768 |
Pancreatitis (PRSS1) Sequencing and Deletion/Duplication |
GeneReviews |
| 3001760 |
Pancreatitis (PRSS1) Deletion/Duplication |
GeneReviews |
| 2002012 |
Pancreatitis, (SPINK1) Sequencing |
|
| 3001764 |
Pancreatitis (SPINK1) Deletion/Duplication |
|
| 2010703 |
Pancreatitis (CTRC) Sequencing |
|
| Periodic Fever Syndromes |
| 2002658 |
Familial Mediterranean Fever (MEFV) Sequencing |
Additional Technical Information
GeneReviews |
| 2007370 |
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| Peroxisomal Disorders |
| 2004250 |
Very Long-Chain and Branched-Chain Fatty Acids Profile |
GeneReviews |
| Peutz-Jeghers |
| 2008398 |
Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2008394 |
Peutz-Jeghers Syndrome (STK11) Sequencing |
|
| Phenylalanine |
| 0080336 |
Phenylalanine and Tyrosine, Plasma (monitoring only) |
|
| 0080315 |
Phenylalanine Monitoring, Plasma (monitoring only) |
|
| Pipecolic Acid |
| 2007406 |
Pipecolic Acid, Serum or Plasma |
GeneReviews
GeneReviews |
| 2008131 |
Pipecolic Acid, Urine |
|
| Plasminogen Activator Inhibitor-1 |
| 2004980 |
Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping |
Additional Technical Information
|
| Platelet Antigen Genotyping |
| 3000193 |
Platelet Antigen Genotyping Panel |
Additional Technical Information
|
| 3001170 |
Platelet Antigen 1 Genotyping (HPA-1) |
|
| Polycystic Kidney Disease |
| 2012250 |
Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2012255 |
Polycystic Kidney Disease, Autosomal Dominant (PKD1 and PKD2) Sequencing |
|
| Pompe Disease |
| 2014463 |
Pompe Disease (GAA), Enzyme Activity in Leukocytes |
|
| Prader-Willi Syndrome |
| 2005077 |
Angelman Syndrome and Prader-Willi Syndrome by Methylation |
GeneReviews |
| 2002299 |
Chromosome FISH, Metaphase—Prader-Willi syndrome (15q11.2-13) |
|
| 2012232 |
Angelman Syndrome and Prader-Willi Syndrome by Methylation, Fetal |
|
| Primary Antibody Deficiency |
| 2011156 |
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews: Agammaglobulinemia
GeneReviews: Hyper IgM Syndrome
GeneReviews: Lymphoproliferative Disease |
| Prothrombin (Factor II) |
| 0056060 |
Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) |
Additional Technical Information
GeneReviews |
| PTEN-Related Disorders |
| 2002722 |
PTEN-Related Disorders Sequencing |
|
| 2002470 |
PTEN-Related Disorders Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| Pulmonary Arterial Hypertension (PAH) |
| 2003405 |
Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication |
|
| 2003410 |
Pulmonary Arterial Hypertension (BMPR2) Sequencing |
|
| 2010696 |
EIF2AK4-Associated Disorders (EIF2AK4) Sequencing |
Additional Technical Information
|
| 2009345 |
Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| Pyruvate Kinase Deficiency |
| 3002059 |
Pyruvate Kinase Deficiency (PKLR) Sequencing |
Additional Technical Information
|
| Rapid Sequencing |
| 2012849 |
Rapid Mendelian Genes Sequencing Panel, Trio |
Additional Technical Information
|
| RASA1-Related Disorders |
| 2007852 |
RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002730 |
RASA1-Related Disorders (RASA1) Sequencing |
Additional Technical Information
|
| Renal Cancer |
| 2002965 |
Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002970 |
Von Hippel-Lindau (VHL) Sequencing |
|
| 2010214 |
Hereditary Renal Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 2012032 |
Hereditary Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 2009313 |
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2009302 |
Li-Fraumeni (TP53) Sequencing |
GeneReviews |
| Retinitis Pigmentosa/Leber Congenital Amaurosis |
| 2007085 |
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews: RP
GeneReviews: LCA |
| Rett Syndrome |
| 0051378 |
Rett Syndrome (MECP2), Full Gene Sequencing |
|
| 0051614 |
Rett Syndrome (MECP2), Full Gene Analysis |
Additional Technical Information
GeneReviews |
| Rh Genotyping |
| 0051368 |
Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) |
Additional Technical Information
|
| 3002002 |
RhC/c (RHCE) Antigen Genotyping |
Additional Technical Information
|
| 3002003 |
RhE/e (RHCE) Antigen Genotyping |
Additional Technical Information
|
| Schwachman-Diamond Syndrome |
| 2006240 |
Schwachman-Diamond Syndrome (SBDS) Sequencing |
Additional Technical Information
GeneReviews |
| Serum Screening—First- and Second-Trimester Combined |
| 3000147 |
Maternal Serum Screening, Integrated, Specimen #1, PAPP-A, NT |
Additional Technical Information |
| 3000149 |
Maternal Serum Screening, Integrated, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A |
Additional Technical Information |
| 3000146 |
Maternal Screening, Sequential, Specimen #1, hCG, PAPP-A, NT |
Additional Technical Information
|
| 3000148 |
Maternal Screening, Sequential, Specimen #2, Alpha Fetoprotein, hCG, Estriol, and Inhibin A |
Additional Technical Information |
| Serum Screening—First-Trimester |
| 3000145 |
Maternal Serum Screen, First Trimester, hCG, PAPP-A, NT |
Additional Technical Information |
| Serum Screening—Second-Trimester |
| 3000144 |
Maternal Serum Screen, Alpha Fetoprotein |
|
| 3000143 |
Maternal Serum Screen, Alpha Fetoprotein, hCG, Estriol, and Inhibin A (Quad) |
Additional Technical Information
|
| SHOX-Related Disorders |
| 3001401 |
SHOX-Related Disorders, Deletion/Duplication with Reflex to Sequencing |
Additional Technical Information
|
| 3001399 |
SHOX-Related Disorders, Sequencing |
Additional Technical Information
|
| 3001395 |
SHOX-Related Disorders, Deletion/Duplication |
Additional Technical Information
|
| Sickle Cell Anemia |
| 0050520 |
Hemoglobin S, Evaluation with Reflex to RBC Solubility |
|
| Skeletal Dysplasia |
| 2012010 |
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal |
Additional Technical Information
|
| 2012015 |
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication |
|
| Skin Cancer |
| 2012032 |
Hereditary Cancer Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| 2009313 |
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2009302 |
Li-Fraumeni (TP53) Sequencing |
GeneReviews |
| Smith-Lemli-Opitz Syndrome |
| 2011457 |
Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing |
Additional Technical Information
GeneReviews |
| 2011704 |
Smith-Lemli-Opitz Syndrome (DHCR7) Sequencing, Fetal |
|
| Spinal Muscular Atrophy (SMA) |
| 2013436 |
Spinal Muscular Atrophy (SMA) Copy Number Analysis |
Additional Technical Information
GeneReviews |
| 2013444 |
Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal |
|
| Statin Sensitivity |
| 2008426 |
SLCO1B1, 1 Variant |
Additional Technical Information
|
| Succinylacetone |
| 2007401 |
Succinylacetone, Quantitative, Urine |
Additional Technical Information
|
| TACI-Associated Common Variable Immunodeficiency |
| 2007569 |
TACI-Associated Common Variable Immunodeficiency (TNFRSF13B) Sequencing |
Additional Technical Information
GeneReviews |
| Tay-Sachs Disease |
| 2008129 |
Hexosaminidase A and Total Hexosaminidase in Plasma with Reflex to Hexosaminidase A and Total Hexosaminidase in Leukocytes |
GeneReviews |
| 2008121 |
Hexosaminidase A and Total Hexosaminidiase, Plasma or Serum |
|
| 2008125 |
Hexosaminidase A and Total Hexosaminidase in Leukocytes |
|
| 2009298 |
Tay-Sachs Disease (HEXA) Sequencing and 7.6kb Deletion |
Additional Technical Information
|
| 0051428 |
Tay-Sachs Disease (HEXA), 7 Variants |
Additional Technical Information
GeneReviews |
| Thanatophoric Dysplasia |
| 0051506 |
Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations |
Additional Technical Information
GeneReviews |
| 0051508 |
Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal |
Additional Technical Information
|
| Thiopurine Methyltransferase |
| 3001535 |
TPMT and NUDT15 |
Additional Technical Information
|
| Thrombotic Risk |
| 0030133 |
Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden |
GeneReviews: Factor II
GeneReviews: FVL |
| 0056200 |
Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) |
|
| Twin Zygosity Testing |
| 0050547 |
Twin Zygosity (16 markers) |
|
| Tyrosine |
| 0080355 |
Tyrosine, Plasma |
|
| UGT1A1 Gene Analysis |
| 3001755 |
UGT1A1 Sequencing |
Additional Technical Information
|
| 0051332 |
UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping |
Additional Technical Information
|
| Vascular Malformation Syndromes |
| 2007384 |
Vascular Malformations Panel, Sequencing and Deletion/Duplication |
Additional Technical Information
|
| |
—see Cerebral Cavernous Malformation (CCM) |
|
| |
—see Hereditary Hemorrhagic Telangiectasia (HHT) |
|
| |
—see RASA1-Related Disorders |
|
| 2009337 |
Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication |
|
| 2007852 |
RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002730 |
RASA1-Related Disorders (RASA1) Sequencing |
Additional Technical Information
|
| 2009008 |
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 0051382 |
ACVRL1 and ENG Sequencing and Deletion/Duplication |
|
| 0051381 |
ACVRL1 and ENG Sequencing |
|
| 2010015 |
Telangiectasia Syndrome (BMP9/GDF2) Sequencing |
Additional Technical Information
|
| Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) |
| 2004212 |
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002001 |
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing |
Additional Technical Information |
| Von Hippel-Lindau/Congenital Polycythemia |
| 2002965 |
Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2002970 |
Von Hippel-Lindau (VHL) Sequencing |
|
| von Willebrand Disease |
| 2005480 |
von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons |
Additional Technical Information
GeneReviews |
| 2005494 |
von Willebrand Disease, Type 2N (VWF) Sequencing |
|
| 2005490 |
von Willebrand Disease, Type 2M (VWF) Sequencing |
|
| 2005486 |
von Willebrand Disease, Type 2B (VWF) Sequencing |
|
| 2005476 |
von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations |
|
| Warfarin Genotyping |
| 3001541 |
Warfarin Sensitivity (CYP2C8, CYP2C9, CYP4F2, VKORC1) Genotyping |
Additional Technical Information
|
| Wilson Disease |
| 2010716 |
Wilson Disease (ATP7B) Sequencing |
Additional Technical Information
GeneReviews |
| X-Chromosome Inactivation |
| 2006352 |
X-Chromosome Inactivation Analysis |
Additional Technical Information |
| X-Linked Adrenoleukodystrophy |
| 2011906 |
Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication |
Additional Technical Information
GeneReviews |
| 2011902 |
Adrenoleukodystrophy, X- Linked (ABCD1) Sequencing |
|
| Y Chromosome Microdeletion |
| 2001778 |
Y Chromosome Microdeletion |
Additional Technical Information
GeneReviews |
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