The test menu below is a complete list of ARUP’s inherited disease testing. A patient history form is requested for many of these genetic tests. Click on the test code or test name to obtain a link to the patient history form for the desired test.

circle-arrow-left Back to Genetics

search
Test # Test Name Additional Information
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*05HLA-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 (SDHBSDHC, 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 (SDHBSDHC, 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 (CFTRCTRCPRSS1SPINK1) 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