ARUP Genetics Test Menu

Test # Test Name Additional Information Test Keywords
2002420 5-Fluorouracil Sensitivity (DPYD, TYMS, and MTHFR) 8 Mutations 5-Fluorouracil Sensitivity 5-Fluorouracil Sensitivity, Pharmacogenetics (PGx), Colorectal Cancer
—see HLA-B*5701 Abacavir Sensitivity
0051266 Achondroplasia (FGFR3) 2 Mutations Achondroplasia Skeletal Dysplasias, Neuroblastoma
0051265 Achondroplasia Mutation, Fetal Achondroplasia Skeletal Dysplasias
0040033 Acylcarnitine Quantitative Profile, Plasma Acylcarnitine Mitochondrial Diseases
0081110 Carnitine Panel Acylcarnitine Mitochondrial, acylcarnitine, free and total carnitine
0081170 Acylglycine, Quantitative, Urine Acylglycine
—see Beta-2-Adrenergic Receptor ADBR2
0051495 Alpha Thalassemia, HBA1 & HBA2, Gene Deletions Alpha Thalassemia Hemoglobinopathies
2001582 Alpha Thalassemia, HBA1 & HBA2, Sequencing Alpha Thalassemia Hemoglobinopathies
0051256 Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype Alpha-1-Antitrypsin AAT
0051710 Alport Syndrome, Adult Type (COL4A5), 3 Mutations Alport Syndrome
2002394 Alport Syndrome, X-linked (COL4A5) Deletion/Duplication Alport Syndrome
2002398 Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication Alport Syndrome
0051786 Alport Syndrome, X-linked (COL4A5) Sequencing Alport Syndrome
0080137 Amino Acids Quantitative, CSF Amino Acids
0080710 Amino Acids Quantitative, Plasma Amino Acids
0080044 Amino Acids Quantitative, Urine Amino Acids
0080427 Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin Amniotic Fluid Alpha Fetoprotein Prenatal Screening and Diagnosis
2005564 Angelman Syndrome (UBE3A) Sequencing Angelman Syndrome
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Angelman Syndrome Angelman, Prader-Willi, Neurocognitive Impairments
2002299 Chromosome FISH, Metaphase Please specify which FISH probe you wish to order. Angelman Syndrome angelman, Prader-Willi, ichthyosis
—see HLA-B27 Ankylosing Spondylitis
—see Familial Adenomatous Polyposis APC-Associated Polyposis Conditions
0055654 Apolipoprotein B Mutation Detection (G9775A, C9774T) Apolipoprotein B (APOB) Risk Markers - CVD (Non-traditional)
0055566 Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk Apolipoprotein E (APOE) Risk Markers - CVD (Non-traditional)
0051415 Ashkenazi Jewish Panel: Bloom Syndrome, Canavan Disease, Familial Dysautonomia, Fanconi Anemia Group C, Gaucher Disease, Mucolipidosis IV, Niemann-Pick Type A, and Tay-Sachs Disease Ashkenazi Jewish Panel (8 disorders) Jewish Genetic
—see Familial Adenomatous Polyposis Attenuated FAP
—see LMNA-Related Disorders Atypical Werner Syndrome
—see PTEN Bannayan-Riley-Ruvalcaba Syndrome
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Beta Globin
0050578 Beta Globin (HBB) Sequencing Beta Globin Thalassemias, Hemoglobinopathies
0051421 Beta Globin HbS, HbC, HbE Detection Beta Globin Sickle cell
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations Beta Globin Beta globin, delta globin, beta thalassemia, Hb Lepore-Washington-Boston, Hb Lepore-Baltimore, Hb Lepore-Hollandia
2005408 Hereditary Persistence of Fetal Hemoglobin (HPFH) 8 Mutations Beta Globin
0051288 Beta-2-Adrenergic Receptor Gene Haplotyping (Arg16Gly, Gln27Glu) Beta-2-Adrenergic Receptor ADRB2
0093362 Biotinidase, Serum (with paired normal control) Biotinidase BTD, biotinidase enzyme, multiple carboxylase
0051730 Biotinidase Deficiency (BTD) Sequencing Biotinidase Deficiency Multiple carboxylase
0051700 Biotinidase Deficiency (BTD), 5 Mutations Biotinidase Deficiency Multiple carboxylase
2004739 Blood Group Genotyping by Microarray Blood Group Genotyping
0051433 Bloom Syndrome (BLM) 2281del6/ins 7 Mutation Bloom Syndrome Jewish Genetic
0051434 Bloom Syndrome (BLM) 2281del6/ins 7 Mutation, Fetal Bloom Syndrome Jewish Genetic
—see Juvenile Polyposis BMPR1A
—see Lynch Syndrome BRAF V600E Mutation
0051453 Canavan Disease (ASPA) 4 Mutations Canavan Disease Jewish Genetic
0051454 Canavan Disease (ASPA) 4 Mutations, Fetal Canavan Disease Jewish Genetic
0081110 Carnitine Panel Carnitine Mitochondrial, acylcarnitine, free and total carnitine
0080512 Carnitine Transport, Fibroblasts Carnitine
0080068 Carnitine, Free and Total, Plasma Carnitine OCTN2, carnitine uptake
0081308 Carnitine, Free and Total, Urine Carnitine OCTN2, carnitine uptake
0080065 Carnitine, Free, Plasma Carnitine
0080067 Carnitine, Total, Plasma Carnitine
2004199 Carnitine Deficiency, Primary (SLC22A5) Deletion/Duplication Carnitine Deficiency, Primary OCTN2, carnitine uptake
0051682 Carnitine Deficiency, Primary (SLC22A5) Sequencing Carnitine Deficiency, Primary OCTN2, carnitine uptake
2004203 Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication Carnitine Deficiency, Primary OCTN2, carnitine uptake
2004927 CDKL5-Related Disorders (CDKL5) Deletion and Duplication CDKL5-Related Disorders X-linked infantile spasm
2004931 CDKL5-Related Disorders (CDKL5) Sequencing CDKL5-Related Disorders X-linked infantile spasm
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication CDKL5-Related Disorders X-linked infantile spasm
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Celiac Disease
2003152 CCM1 Sequencing Cerebral Cavernous Malformation (CCM) Cerebral Cavernous Malformation
2003172 CCM1, CCM2, and CCM3 Deletion/Duplication Cerebral Cavernous Malformation (CCM) Cerebral Cavernous Malformation
2003164 CCM1, CCM2, and CCM3 Sequencing and Deletion/Duplication Cerebral Cavernous Malformation (CCM) Cerebral Cavernous Malformation
2003156 CCM2 Sequencing Cerebral Cavernous Malformation (CCM) Cerebral Cavernous Malformation
2003160 CCM3 Sequencing Cerebral Cavernous Malformation (CCM) Cerebral Cavernous Malformation
—see LMNA-Related Disorders Charcot-Marie-Tooth, Type 2B1
2002067 Chimerism, Donor Chimerism
2002066 Chimerism, Post-Transplant Chimerism
2002064 Chimerism, Post-Transplant, Sorted Cells Chimerism
2002065 Chimerism, Recipient Pre-Transplant Chimerism
—see Hearing Loss Connexin 26 (GJB2)
—see Hearing Loss Connexin 30 (GJB6)
2002293 Chromosome Analysis, Amniotic Fluid Constitutional Studies Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, amnio, amniocyte
0097688 Chromosome Analysis, Breakage Syndrome Analysis Send-out test Constitutional Studies Fanconi anemia, Fanconi’s, Fanconis, diagnostic
2002291 Chromosome Analysis, Chorionic Villus Sampling (CVS) Constitutional Studies Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, villi, placenta
2002289 Chromosome Analysis, Peripheral Blood Constitutional Studies karyotype, Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, anomalies, birth defects, infertility
2005763 Chromosome Analysis, Peripheral Blood, with Reflex to Genomic Microarray Constitutional Studies Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, mental retardation, developmental delay, 45X, 45,X, XXY, XYY, anomalies, birth defects, infertility
2002288 Chromosome Analysis, Products of Conception Constitutional Studies Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss
2005762 Chromosome Analysis, Products of Conception, with Reflex to Genomic Microarray Constitutional Studies Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, karyotype, prenatal, fetus, fetal, villi, placenta, pregnancy loss
2002287 Chromosome Analysis, Rule Out Mosaicism Constitutional Studies Turner, Turners, Turner's, 45X, 45,X, mosaic, Down, Downs, Down's, trisomy 21, T21, karyotype
0097677 Chromosome Analysis, Sister Chromatid Exchange (SCE) Send-out test Constitutional Studies Bloom, diagnostic
2002286 Chromosome Analysis, Skin Biopsy Constitutional Studies tissue, karyotype, mosaic, mosaicism
2005749 Chromosome Analysis—Breakage, Ataxia Telangiectasia, Whole Blood Technical Bulletin Constitutional Studies Ataxia Telangiectasia, AT, diagnostic
—see PTEN Cowden Syndrome
2002328 Creatine Disorders Panel, Plasma or Serum Creatine GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
2002333 Creatine Disorders Panel, Urine Creatine GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
2001875 Creatine Transport, Fibroblasts Creatine GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
2001967 Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Reflex to Deletion/Duplication Cystic Fibrosis Diagnostic, CF
0051642 Cystic Fibrosis (CFTR) Deletion/Duplication Cystic Fibrosis Diagnostic, CF
0051640 Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Cystic Fibrosis Diagnostic, CF
0050098 Cystic Fibrosis (CFTR) 3199del6 Mutation Cystic Fibrosis I148T, CF
2001933 Cystic Fibrosis (CFTR) 32 Mutations Cystic Fibrosis Jewish Genetic, pregnancy screen, carrier screen, CF, mutation panel, common mutations
2001968 Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing Cystic Fibrosis Diagnostic, CF
2001969 Cystic Fibrosis (CFTR) 32 Mutations, Atypical Cystic Fibrosis Male infertility, CF, 5T, mutation panel, common mutations
2001970 Cystic Fibrosis (CFTR) 32 Mutations, Fetal Cystic Fibrosis Common mutations, prenatal, amnio, amniotic fluid, CVS, chorionic villi, CF, mutation panel
0056003 Cystic Fibrosis (CFTR) 5T Mutation Cystic Fibrosis CF
0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis Diagnostic, CF
0056006 Cystic Fibrosis Cis-Trans (CFTR) R117H & 5T Mutations Cystic Fibrosis CF
0081106 Cystine Quantitative, Urine Cystine Cystinuria
0081105 Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine Cystine
0051104 Cytochrome P450 2C19 (CYP2C19) 9 Mutations Cytochrome P450 Pharmacogenetics (PGx), Schizophrenia, Breast Cancer
0051103 Cytochrome P450 2C9 (CYP2C9) 2 Mutations Technical Bulletin Cytochrome P450 Warfarin Sensitivity, Pharmacogenetics (PGx)
0051232 Cytochrome P450 2D6 (CYP2D6) 14 Mutations & Gene Duplication Cytochrome P450 Tamoxifen, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer
2003326 deCODE ProstateCancer (Genetic Risk Assessment) deCODE ProstateCancer™ Prostate Cancer
—see Marfan Syndrome Ectopia Lentis, Isolated
2005555 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form)
2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form)
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form)
—see LMNA-Related Disorders Emery-Dreifuss Muscular Dystrophy, Type 2
—see CDKL5-Related Disorders Epileptic Encephalopathy, Early Infantile 2 (EIEE2)
2005898 Protocadherin 19 (PCDH19) Sequencing Send-out test Epileptic Encephalopathy, Early Infantile, 9 (EIEE9)
0097720 Factor V Leiden (F5) R506Q Mutation Factor V Leiden Venous thrombosis, Thromboembolism, Thrombophilia, clotting
0030192 Factor V Leiden Functional Assay with Reflex to PCR Factor V Leiden Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2001549 Factor V R2 A4070G Mutation Factor V Leiden Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L Variant Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2004911 MYH-Associated Polyposis (MYH) 2 Mutations Familial Adenomatous Polyposis Colorectal Cancer
2004920 Familial Adenomatous Polyposis (APC) Deletion and Duplication Familial Adenomatous Polyposis Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004863 Familial Adenomatous Polyposis (APC) Sequencing Familial Adenomatous Polyposis Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Familial Adenomatous Polyposis Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
0051463 Dysautonomia, Familial (IKBKAP) 2 Mutations Familial Dysautonomia Jewish Genetic Disease
0051464 Dysautonomia, Familial (IKBKAP) 2 Mutations, Fetal Familial Dysautonomia Jewish, Ashkenazi, prenatal, amnio, amniotic fluid, CVS, chorionic villi
2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV) DNA
2001961 Familial Mutation, Targeted Sequencing Familial Mutation Testing
2001980 Familial Mutation, Targeted Sequencing, Fetal Familial Mutation Testing Known mutation, family study, mutation specific testing, carrier detection, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells
—see LMNA-Related Disorders Familial Partial Lipodystrophy, Dunnigan Type
0051468 Fanconi Anemia Group C, FANCC Gene Mutations (322delG, IVS4(+4)A>T) Fanconi Anemia Group C Jewish, Ashkenazi, carrier testing, DNA
0051469 Fanconi Anemia Group C, FANCC Gene Mutations, Fetal Fanconi Anemia Group C Jewish, Ashkenazi, DNA, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells
—see Marfan Syndrome FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections
—see Marfan Syndrome FBN1-Related Weill-Marchesani Syndrome
2005896 SCN1A-Related Seizure Disorders (SCN1A), Sequencing and Deletion/Duplication Send-out test Febrile Seizures
2006069 Febrile Seizures Panel Send-out test Febrile Seizures
0051752 FG Syndrome, FGS1 (MED12) R961W Mutation FG Syndrome Opitz-Kaveggia, Mental retardatio, developmental delay, macrocephaly, imperforate anus
0040208 Aneuploidy Panel by FISH FISH (Constitutional)—Aneuploidy Panels Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, newborn
0040203 Chorionic Villus, FISH FISH (Constitutional)—Aneuploidy Panels Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, CVS
2002297 Chromosome FISH, Prenatal FISH (Constitutional)—Aneuploidy Panels Down, Downs, Down's, Trisomy 21, Trisomy 18, Turner, Turner's, Turners, Klinefelter, Klinefelter's, Klinefelters, trisomy 13, prenatal, amnio, amniotic fluid, Insight, PN FISH
2002299 Chromosome FISH, Metaphase

Available probes:
1p36 deletion
4p-
5p-
15q11.2-12 duplication
22qter deletion (SHANK3)
Angelman
Cri-du-chat
DiGeorge
Kallman
Male detection (SRY)
Miller-Dieker (Lisencephaly)
Phelan McDermid
Prader-Willi
SHOX
Smith-Magenis
SRY
Steroid sulfatase deficiency (STS)
Velocardiofacial (VCF)
Williams (elastin)
Wolf-Hirschhorn

Please call a genetic counselor before ordering:
Acrocentric p-arm
X centromere
X inactivation locus (XIST)
Xp22
Y centromere
Yp11.3
Yq12

 		Please specify which FISH probe you wish to order.

 FISH (Constitutional)—Individual Probes 1p36, 4p-, 5p-, angelman, cri-du-chat, DiGeorge, Kallman, SRY, Miller-Dieker, Lisencephaly, Phelan McDermid, Prader-Willi, SHOX, Smith-Magenis, Steroid sulfatase deficiency, STS, Velocardiofacial, VCF, VCFS, Williams, elastin, Wolf-Hirschhorn, Xp22, Centromere, Yq12, Yp11.3, ichthyosis
0040011 Fragile X (FMR1) Diagnostic Fragile X Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
2001946 Fragile X (FMR1) Screen with Reflex to Fragile X (FMR1) Diagnostic Fragile X Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
0050543 Fragile X Syndrome, Fetal Fragile X Known mutation, family study, mutation specific testing, target analysis, familial mutation, family-specific mutation, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, X-linked
2002662 Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17 Freeman-Sheldon Syndrome (MYH3) Distal Arthrogryposis Type 2A, Congenital contractures
0051684 Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) G6PD Deficiency Hemolytic Anemias
0081296 Galactose-1-Phosphate in Red Blood Cells Galactosemia Galactosemia, GALT
0080125 Galactose-1-Phosphate Uridyltransferase, Whole Blood Galactosemia Galactosemia, GALT
0051346 Galactosemia (GALT) Sequencing Galactosemia Galactosemia
0051270 Galactosemia, (GALT ) 9 Mutations, Fetal Galactosemia Galactosemia
0051176 Galactosemia, (GALT) 9 Mutations Galactosemia Galactosemia
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations Galactosemia Galactosemia
—see Familial Adenomatous Polyposis Gardner Syndrome
0051438 Gaucher Disease (GBA) 8 Mutations Gaucher Disease Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
0051439 Gaucher Disease (GBA) 8 Mutations, Fetal Gaucher Disease Jewish Genetic, Glucocerebrosidase, Glucosylceramidase deficiency
2003414 Cytogenomic SNP Microarray Genomic Microarray array, CGH, aCGH, CNV, mental retardation, developmental delay, anomalies, birth defects, CMA, snip, LOH, UPD, uniparental disomy
2005633 Genomic SNP Microarray, Products of Conception Genomic Microarray conception, amnio, amniotic fluid, CVS, villi, cultured cells
2002366 Microarray Genomic, Fetal Genomic Microarray array, CGH, aCGH, CNV, ultrsound anomalies, birth defects, POC, products of conception, amnio, amniotic fluid, CVS, villi, cultured cells
2004434 X Chromosome Ultra-High Density Microarray, 954 Genes Genomic Microarray Neurocognitive Impairments, X-linked, mental retardation, developmental delay, seizures, x chromosome
2002301 Microarray Family Study by FISH

Used to determine the presence of a known deletion or duplication, previously identified by microarray in a family member. If the original array was not performed at ARUP, contact an ARUP genetic counselor prior to sending the sample.

 		Please call a genetic counselor before ordering. Genomic Microarray (FISH) Array, CGH, aCGH, parental
0051476 Primary Congenital Glaucoma (CYP1B1) Sequencing Glaucoma, Primary Congenital (CYP1B1) Cytochrome P4501B1
2001510 Glutarylcarnitine, Quantitative, Urine Glutarylcarnitine GA1, glutaric acidemia type I, C5DC
—see Celiac Disease Gluten-Sensitive Enteropathy
0040116 Haptoglobin (HP) Genotyping Haptoglobin Diabetes Mellitus, Cardiovascular risk
0051374 Connexin 26 (GJB2) Sequencing Hearing Loss Hearing Loss
2001956 Connexin 30 (GJB6) 2 Deletions Hearing Loss Hearing Loss
2002044 Hearing Loss, Nonsyndromic Mitochondrial DNA 2 Mutations Hearing Loss m.1555A>G, m.7445A>G
2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations Hearing Loss m.1555A>G, m.7445A>G, Connexin 26, Connexin 30
0051383 Hearing Loss, Nonsyndromic, Connexin 26 (GJB2) 35delG Mutation Hearing Loss
2005792 Hemoglobin Evaluation Reflexive Cascade Hemoglobin Lepore
—see Beta Globin Hemoglobin Lepore
2001759 Hemophilia A (F8) 2 Inversions Hemophilia A Factor VIII, Factor 8, bleeding, classic hemophilia
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Hemophilia A Factor VIII, Factor 8, bleeding, classic hemophilia
2001755 Hemophilia A (F8) 2 Inversions, Fetal Hemophilia A Factor VIII, Factor 8, bleeding, classic hemophilia
2001751 Hemophilia A (F8) Deletion/Duplication Hemophilia A Factor VIII, Factor 8, bleeding, classic hemophilia
2001747 Hemophilia A (F8) Sequencing Hemophilia A Factor VIII, Factor 8, bleeding, classic hemophilia
2001578 Hemophilia B (F9) Sequencing Hemophilia B Factor IX, Factor 9, bleeding, Christmas
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) Hereditary Hemochromatosis HFE, HFE-associated hemochromatosis, HFE-HHC, iron overload
0051348 ACVRL1 and ENG Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT, hereditary hemorrhagic telangiectasia
0051381 ACVRL1 and ENG Sequencing Hereditary Hemorrhagic Telangiectasia (HHT) HHT, hereditary hemorrhagic telangiectasia
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT, hereditary hemorrhagic telangiectasia
—see Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia (HHT)
—see Lynch Syndrome Hereditary Non-Polyposis Colon Cancer (HNPCC)
—see Beta Globin Hereditary Persistence of Fetal Hemoglobin
2002429 HLA-B*5701 Genotyping HLA-B*5701 (Abacavir Sensitivity) Genotyping Pharmacogenetics (PGx), HIV Drug Resistance, HIV, Abacavir sensitivity, Ziagene, Abacavir hypersensitivity, ABC HSR
0050392 Ankylosing Spondylitis (HLA-B27) Genotyping HLA-B27 (Ankylosing Spondylitis) Genotyping IBD
—see Celiac Disease HLA-DQA1*05, HLA-DQB1*02, and *03
0080413 Homocystine, Quantitative, Urine Homocystine Homocystinuria, cystathione beta synthase
0040018 Huntington Disease (HD) Mutation with Reflex to Southern Blot Huntington Disease Huntington chorea, CAG trinucleotide repeats, HTT
—see LMNA-Related Disorders Hutchinson-Gilford Progeria Syndrome
0080328 Hydroxyproline, Total, Urine Hydroxypoline
0051367 Hypochondroplasia (FGFR3) 2 Mutations Hypochondroplasia Skeletal Dysplasias, N540K, c.1620C>A, c.1620C>G
—see CDKL5-Related Disorders Infantile Spasm Syndrome, X-linked 2 (ISSX2)
0080860 Insulin Binding, Fibroblasts Insulin Binding
2004680 Interleukin 28 B (IL28B)—Associated Variants, 2SNPs Interleukin 28 B Associated SNP—Genotyping Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα
2004984 Juvenile Polyposis (BMPR1A) Deletion/Duplication Juvenile Polyposis JPS, SMAD4
2004988 Juvenile Polyposis (BMPR1A) Sequencing Juvenile Polyposis JPS, SMAD4
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication Juvenile Polyposis JPS, SMAD4
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS
0051510 Juvenile Polyposis (SMAD4) Sequencing Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS
0051644 Kell Antigen Genotyping (KEL1/KEL2) Kell Antigen Genotyping Hemolytic Disease of the Newborn, K/k, Kell/Cellano, KEL
2002945 Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17) Legius Syndrome Neurofibromatosis, LS, NF 1-like
—see LMNA-Related Disorders Limb-Girdle Muscular Dystrophy, Type1B
2004539 LMNA-Related Disorders (LMNA) Deletion/Duplication LMNA–Related Disorders Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, dilated cardiomyopathy, DCM
2004543 LMNA-Related Disorders (LMNA) Sequencing LMNA–Related Disorders Muscular dystrophy-related laminopathy, laminopathies, Emery-Dreifuss muscular dystrophy type 2, EDMD2, Limb Girdle muscular dystrophy 1B, LGMD1B, Hutchinson-Gilford progeria, HGPS, Charcot-Marie-Tooth 2B1, CMT2B1, Familial partial lipodystrophy Dunnigan type, FLPD, dilated cardiomyopathy, DCM, mandibulo-acral dysplasia, MAD, atypical Werner,C236 WS, restrictive dermopathy, RD
2002697 TGFBR1 & TGFBR2 Deletion/Duplication Loeys-Dietz Syndrome Loeys-Dietz, LDS, aortic aneurysm
2002705 TGFBR1 & TGFBR2 Sequencing Loeys-Dietz Syndrome Loeys-Dietz, LDS, aortic aneurysm
2002701 TGFBR1 & TGFBR2 Sequencing and Deletion/Duplication Loeys-Dietz Syndrome Loeys-Dietz, LDS, aortic aneurysm
0051750 BRAF V600E Mutation with Reflex to MLH1 Promoter Methylation, Paraffin Lynch Syndrome Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Colorectal Cancer, Tumor Markers
2002499 MLH1 Promoter Methylation, Paraffin Lynch Syndrome
0051650 MLH1 Sequencing and Deletion/Duplication Lynch Syndrome Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 MSH2 Sequencing and Deletion/Duplication Lynch Syndrome Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 MSH6 Sequencing and Deletion/Duplication Lynch Syndrome Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 PMS2 Sequencing and Deletion/Duplication Lynch Syndrome Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Lynch Syndrome Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot
0051674 Macular Degeneration, Age-Related, DNA Variants Macular Degeneration AMD, CHF, ARMS2, Y402H, A69S
—see LMNA-Related Disorders Mandibuloacral Dysplasia
2005580 Marfan Syndrome (FBN1) Deletion/Duplication Marfan Syndrome
2005589 Marfan Syndrome (FBN1) Sequencing Marfan Syndrome
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Marfan Syndrome
—see Marfan Syndrome MASS Syndrome
0081293 Maternal Screening, Sequential, Specimen #1 Maternal Serum Screening Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
0081294 Maternal Screening, Sequential, Specimen #2 Maternal Serum Screening Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0080434 Maternal Serum Screen, Alpha Fetoprotein (Only) Maternal Serum Screening Prenatal Screening, NTD, neural tube defects, second trimester
0081150 Maternal Serum Screen, First Trimester Maternal Serum Screening Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, hCG
0081062 Maternal Serum Screening, Integrated, Specimen #1 Maternal Serum Screening Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester
0081064 Maternal Serum Screening, Integrated, Specimen #2 Maternal Serum Screening Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0080269 Quad Screen Alpha Fetoprotein, hCG, Estriol, and Inhibin A Maternal Serum Screening Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0080108 Triple Screen Alpha Fetoprotein, hCG, and Estriol Maternal Serum Screening Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, NTD, neural tube defects, two part screen, second trimester
0051205 MCAD Deficiency (ACADM) 2 Mutations Medium Chain Acyl-CoA Dehydrogenase (MCAD) Medium-chain acyl-coa dehydrogenase, fatty acid oxidation
0051758 MCAD Deficiency (ACADM) Sequencing Medium Chain Acyl-CoA Dehydrogenase (MCAD) Medium-chain acyl-coa dehydrogenase, fatty acid oxidation
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations Methylenetetrahydrofolate Reductase (MTHFR) Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
2005255 Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) Methylmalonic Acid
0051740 HNPCC/ Lynch Syndrome, Microsatellite Instability by PCR Microsatellite Instability (MSI) Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Colorectal Cancer, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair
0049302 Microsatellite Instability/HNPCC by Immunohistochemical Stain Microsatellite Instability (MSI) Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Colorectal Cancer, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
2005270 Mismatch Repair by IHC with Reflex to MLH1 Promoter Methylation Microsatellite Instability (MSI)
2006050 Mitochondrial Disorders (108 Nuclear Genes) Sequencing Mitochondrial Disorders (Mitochondrial and Nuclear Genes) Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006054 Mitochondrial Disorders Panel (mtDNA and 108 Nuclear Genes) Sequencing and Deletion/Duplication Mitochondrial Disorders (Mitochondrial and Nuclear Genes) Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006061 Mitochondrial Genome (mtDNA and 108 Nuclear Genes) Deletion/Duplication Mitochondrial Disorders (Mitochondrial and Nuclear Genes) Mitochondrial, mitochondria, heteroplasmy, mtDNA
0093019 Mitochondrial DNA (mtDNA), Whole Genome Scanning and Identification (Mito-ScanGX™) Mitochondrial Genome Mitochondrial, mitochondria, heteroplasmy, mtDNA
—see Lynch Syndrome MLH1 Promoter Methylation
0051755 Molar Pregnancy, 16 DNA Markers Molar Pregnancy Gestational Trophoblastic Disease
0051448 Mucolipidosis IV (MCOLN1) 2 Mutations Mucolipidosis IV Jewish Genetic, lysosomal
0051449 Mucolipidosis IV (MCOLN1) 2 Mutations, Fetal Mucolipidosis IV Jewish Genetic, lysosomal
0081352 Mucopolysaccharides Electrophoresis and Quantitation, Urine Mucopolysaccharidoses (MPS) MPS, Hurler, Hunter, Scheie, Sanfilippo, Maroteaux-Lamy, Morquio, Sly, glycosaminoglycan, GAG
0081357 Mucopolysaccharides, Quantitative, Urine Mucopolysaccharidoses (MPS) MPS, Hurler, Hunter, Scheie, Sanfilippo, Maroteaux-Lamy, Morquio, Sly, glycosaminoglycan, GAG
—see Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Adenomatosis
2005346 Multiple Endocrine Neoplasia Type 1 (MEN1) Deletion/Duplication Multiple Endocrine Neoplasia Type 1 (MEN1) Multiple endocrine adenomatosis, Wermer, Multiple Endocrine Neoplasias (MEN)
2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing Multiple Endocrine Neoplasia Type 1 (MEN1) Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication Multiple Endocrine Neoplasia Type 1 (MEN1) Multiple endocrine adenomatosis, Wermer syndrome, Multiple Endocrine Neoplasias (MEN)
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing Multiple Endocrine Neoplasia Type 2 (MEN2) Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
0051492 Multiple Endocrine Neoplasia Type 2B (MEN2B), RET Gene M918T & A883F Mutations Multiple Endocrine Neoplasia Type 2 (MEN2) Thyroid Cancer, Pheochromocytoma, Multiple Endocrine Neoplasias (MEN), MEN 2A, MEN 2B, familial medullary thyroid carcinoma, FMTC, RET proto-oncogene
2005023 Narcolepsy (HLA-DQB1*06:02) Genotyping Narcolepsy Narcolepsy, HLA-DQB1, sleep
—see Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI Nevo Syndrome
0051458 Niemann-Pick, Type A (SMPD1) 4 Mutations Niemann-Pick Disease Type A Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
0051459 Niemann-Pick, Type A (SMPD1) 4 Mutations, Fetal Niemann-Pick Disease Type A Jewish Genetic, acid sphingomyelinase, ASM, NP-A, lysosomal storage, L302P, 1bp del fsP330, R496L, R608del
—see Celiac Disease Nontropical Sprue
0051805 Noonan Syndrome (PTPN11) Sequencing Noonan Syndrome Neurocognitive Impairments, NS, SOS1, Leopard, Noonan-like/multiple giant-cell lesion, Metachondromatosis
2004195 Noonan Syndrome (SOS1) Sequencing Noonan Syndrome Neurocognitive Impairments, NS, PTPN11, Leopard, Noonan-like/multiple giant-cell lesion
2004189 Noonan Syndrome PTPN11 Sequencing with Reflex to SOS1 Sequencing Noonan Syndrome Neurocognitive Impairments, NS, Leopard, Noonan-like/multiple giant-cell lesion
2005656 Ogden Syndrome (NAA10) Sequencing Exon 2 Ogden Syndrome
2002292 Chromosome Analysis, Bone Marrow Oncology Studies Myelodysplastic, CLL, ALL, CML, AML, MPN, Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas, oncology, cancer, leukemia, MDS, MPS, karyotype
2002290 Chromosome Analysis, Leukemic Blood Oncology Studies Chronic Lymphocytic Leukemia (CLL), Acute Myeloid Leukemia (AML), blasts, blast, karyotype
2002300 Chromosome Analysis, Lymph Node Oncology Studies biopsy, karyotype, cancer, oncology, lymphoma
2002296 Chromosome Analysis, Solid Tumor Oncology Studies Sarcoma
2002647 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Adult Oncology Studies, FISH—Blood and Bone Marrow Panels B-Cell Lymphoma
2002719 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric Oncology Studies, FISH—Blood and Bone Marrow Panels Oncology, Bone Marrow , B-Cell Lymphoma, childhood, child, children
2002653 Acute Myelogenous Leukemia (AML) with Myelodysplastic Syndrome (MDS), or Therapy-Related AML, by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels Myelodysplastic, Acute Myeloid Leukemia
2002384 Acute Myelogenous Leukemia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels Acute Myeloid Leukemia, AML, Myeloproliferative, MPD
2002295 Chromosome FISH, CLL Panel Oncology Studies, FISH—Blood and Bone Marrow Panels Chronic Lymphocytic Leukemia, CLL, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers
2002378 Eosinophilia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels Mast Cell Disease, Eosinophilic Diseases, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN)
2002650 Lymphoma (Aggressive) Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels Lymphoma Phenotyping, B-Cell Lymphomas, Lymphoproliferative Disorders (LPD)
2002294 Multiple Myeloma Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels Plasma Cell Dyscrasias
2002709 Myelodysplastic Syndrome (MDS) Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels Myelodysplastic Syndrome (MDS)
2002360 Myeloproliferative Disorders Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels Chronic Myelogenous Leukemia (CML), Myeloproliferative Neoplasms (MPN)
2002363 PML/RARα FISH Oncology Studies, FISH—Blood and Bone Marrow Panels Acute Myeloid Leukemia (AML), Tumor Markers
2002298 Chromosome FISH, Interphase

Gene/Probe:
CEP 4
CEP 8
CEP 10
+12
CEP 17
DEL (20q)
CEP X/Y
ALK Break Apart Probe
ASS1
ATM
BCL6 Break Apart Probe
BCR/ABL1/ASS1
CBFB Break Apart Probe
CDKN2
CHOP
C-myc Break Apart Probe
D7S486/CEP 7 (centromere)
D13S319
DDIT3
E2A
EGR1
ETO/AML1 Fusion
EVI1
EVT6/RUNX1
EWSR1 Break Apart Probe
FGFR1
FGFR3/IGH
FOXO1
IGH Break Apart Probe
IGH/BCL2
IGH/CCND1
IGH/MAF
MALT1
MLL Break Apart Probe
MYC Break Apart Probe
P16
P53
PDGFRA
PDGFRB
PML/RARA
RUNX1T1/RUNX1 Fusion
SS18 Break Apart Probe
SYT Break Apart Probe
TCF3
TEL/AML1
TP53 		Please specify which FISH probe you wish to order.

 Oncology Studies, FISH—Blood and Bone Marrow—by Gene/Probe Oncology, Bone Marrow, Ewing Sarcoma, Neuroblastoma, Myelodysplastic, MDS, Chronic Lymphocytic Leukemia (CLL), Sarcoma, Acute Lymphoblastic Leukemia (ALL), Chronic Myelogenous Leukemia (CML), Tumor Markers, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas
2002298 Chromosome FISH, Interphase

Location:
2p23 ALK rearrangement
3q27 BCL6 rearrangement
Chromosome 4 gain or loss
4q12 PDGFRA rearrangement
Chromosome 5q deletion
5q32 PDGFRB rearrangement
Chromosome 7q deletion/Monosomy 7
Chromosome 8 gain or loss
8p12
8q24
9p21 deletion
9q34
Chromosome 10 gain or loss
11q23
Trisomy 12
14q32
Chromosome 17 gain or loss
17p13.1 deletion
18q11.2 (Synovial sarcoma) rearrangement
19p13 Rearrangement
Chromosome 20q Deletion
22q12.2 (Ewing Sarcoma) rearrangement
Chromosomes X & Y Centromere
del(11)(q22.3) deletion
del(13)(q14.3) deletion
inv(16)(p13.3q22) CBFB rearrangement
t(11;14)(q12;q32) fusion
t(12;21)(p13;q22) fusion
t(14;16)(q32;q23.1) fusion
t(14;18)(q32;q21) fusion
t(15;17)(q22;q21) fusion
t(4;14)(p16;q32) fusion
t(8;21)(q22;q22) fusion
t(9;22)(q34;q11.2) Fusion 		Please specify which FISH probe you wish to order.

 Oncology Studies, FISH—Blood and Bone Marrow—by Location Oncology FISH Studies, Blood and Bone Marrow, Ewing Sarcoma, Neuroblastoma, Myelodysplastic Syndromes, Chronic Lymphocytic Leukemia (CLL), Sarcoma, Acute Lymphoblastic Leukemia (ALL), Chronic Myelogenous Leukemia (CML), Tumor Markers, Acute Myeloid Leukemia (AML), Myeloproliferative Neoplasms (MPN), Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas
2002461 Pancreatobiliary FISH Oncology Studies, FISH—Other Pancreatic Cancer, Tumor Markers
8100600 UroVysion™ FISH Oncology Studies, FISH—Other Bladder Cancer, Tumor Markers, urine
0049360 1p/19q d(1:19) Deletion by FISH Oncology Studies, FISH—Paraffin Block Oncology, Paraffin, Brain Tumors, Tumor
0049378 CHOP Gene Rearrangement Oncology Studies, FISH—Paraffin Block Sarcoma
0049335 EWSR1 Break Apart Rearrangement by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block Ewing Sarcoma, Sarcoma, Tumor Markers
2001497 FKHR Gene Rearrangement by FISH Oncology Studies, FISH—Paraffin Block Sarcoma
2002345 LSI MYC t(8q;24) by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block B-Cell Lymphomas, Tumor Markers
0049234 EGFR by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block Head and Neck Cancer, Lung Cancer
0049218 HER-2/neu (PathVysion HER-2) Oncology Studies, FISH—Paraffin Block Breast Cancer, Tumor Markers, FISH, herceptin
0049381 IgH-CCND1, t(11:14) Translocation by FISH Oncology Studies, FISH—Paraffin Block Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers
2001536 IGH/BCL2 t(14;18) by FISH for Detection in Follicular Lymphoma Oncology Studies, FISH—Paraffin Block Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas
2001538 IGH/MYC, CEP8 t(8;14) by FISH for Detection in Burkitt Lymphoma Technical Bulletin Oncology Studies, FISH—Paraffin Block Lymphoma Phenotyping, B-Cell Lymphomas
2003016 Murine Double Minute 2 by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block Sarcoma, Tumor Markers
0049235 N-myc by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block Neuroblastoma, Tumor Markers
0049380 SYT Rearrangement by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block Sarcoma, Tumor Markers
0099289 Organic Acids, Plasma Organic Acids
0098389 Organic Acids, Urine Organic Acids
2004892 Ornithine Transcarbamylase Deficiency (OTC) Deletion/Duplication Ornithine Transcarbamylase Deficiency Urea cycle
2004901 Ornithine Transcarbamylase Deficiency (OTC) Sequencing Ornithine Transcarbamylase Deficiency Urea cycle
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication Ornithine Transcarbamylase Deficiency Urea cycle
0092458 Orotic Acid and Orotidine, Urine Orotic Acid Canavan, N-acetylaspartic, alkaptonuria, homogentesic
2002016 Pancreatitis, Hereditary (PRSS1) Sequencing Pancreatitis Idiopathic pancreatitis, acute pancreatitis, R122H, N29I
2002005 Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing Pancreatitis Idiopathic pancreatitis, acute pancreatitis, R122H, N29I, N34S, hereditary pancreatitis
2002012 Pancreatitis, Idiopathic (SPINK1) Sequencing Pancreatitis Idiopathic pancreatitis, acute pancreatitis, N34S
0080336 Phenylalanine and Tyrosine, Plasma (monitoring only) Phenylalanine PKU
0080315 Phenylalanine Monitoring, Plasma (monitoring only) Phenylalanine PKU
2004980 Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping Plasminogen Activator Inhibitor-1 Fibrinolytic, thrombosis-associated PAI-1 activity, serpin peptidase inhibitor, 4G/4G, 4G/5G, thrombotic risk
0051309 Platelet Antigen 1 Genotyping (HPA-1) Platelet Antigen Genotyping Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051314 Platelet Antigen 15 Genotyping (HPA-15) Platelet Antigen Genotyping Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051310 Platelet Antigen 2 Genotyping (HPA-2) Platelet Antigen Genotyping Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051311 Platelet Antigen 3 Genotyping (HPA-3) Platelet Antigen Genotyping Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051490 Platelet Antigen 4 Genotyping (HPA-4) Platelet Antigen Genotyping Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051312 Platelet Antigen 5 Genotyping (HPA-5) Platelet Antigen Genotyping Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051313 Platelet Antigen 6 Genotyping (HPA-6) Platelet Antigen Genotyping Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051308 Platelet Antigen Genotyping Panel Platelet Antigen Genotyping Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Prader-Willi Syndrome Angelman, Prader-Willi, Neurocognitive Impairments
2002299 Chromosome FISH, Metaphase Please specify which FISH probe you wish to order. Prader-Willi Syndrome angelman, Prader-Willi, ichthyosis
—see PTEN Proteus Syndrome
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) Prothrombin (Factor II) F2, G20210A, thrombosis, plasma prothrombin, thrombophilia, clotting
—see Epileptic Encephalopathy, Early Infantile, 9 (EIEE9) Protocadherin 19 (PCDH19)
2002726 PTEN-Related Disorders Deletion/Duplication PTEN-Related Disorders PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2002722 PTEN-Related Disorders Sequencing PTEN-Related Disorders PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2002470 PTEN-Related Disorders Sequencing and Deletion/Duplication PTEN-Related Disorders PTEN hamartoma tumor, PHTS, Cowden, CS, Bannayan-Riley-Ruvalcaba, BRRS, Proteus, PS, Proteus-like, PSL, macrocephaly, autism
2003401 Pulmonary Arterial Hypertension (BMPR2) Deletion/Duplication Pulmonary Arterial Hypertension, BMPR2-Related PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003410 Pulmonary Arterial Hypertension (BMPR2) Sequencing Pulmonary Arterial Hypertension, BMPR2-Related PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication Pulmonary Arterial Hypertension, BMPR2-Related PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2002730 RASA1-Related Disorders (RASA1) Sequencing RASA1-Related Disorders Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
—see LMNA-Related Disorders Restrictive Dermopathy
0051618 MECP2 Deletion/Duplication Rett Syndrome MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051614 MECP2 Full Gene Analysis Rett Syndrome MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051378 MECP2 Full Gene Sequencing Rett Syndrome MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
—see CDKL5-Related Disorders Rett Syndrome, Atypical, CDKL5-Related
—see CDKL5-Related Disorders Rett Syndrome, Variant, with Infantile Spasms
0051368 Rh Genotyping D Antigen (RhD positive/negative and RhD copy number) Rh Genotyping Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
0050421 RhCc Antigen (RHCE) Genotyping Rh Genotyping Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0050423 RhEe Antigen (RHCE) Genotyping Rh Genotyping Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
—see Febrile Seizures SCN1A-Related Seizure Disorders (SCN1A)
—see Juvenile Polyposis SMAD4
0051428 Tay-Sachs (HEXA) 7 Mutations Tay-Sachs Disease Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W
0051429 Tay-Sachs (HEXA) 7 Mutations, Fetal Tay-Sachs Disease Jewish Genetic, Hex A, GM2 gangliosidosis, hexosaminidase, lysosomal storage, delta 7.6kb, IVS9(+1)G>A, 1278insTATC, IVS12(+1)G>C, G269S, R247W, R249W
0051506 TD Types I & II (FGFR3) 13 Mutations Thanatophoric Dysplasia (FGFR3 Gene Mutations) Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0051508 TD Types I & II (FGFR3) 13 Mutations, Fetal Thanatophoric Dysplasia (FGFR3 Gene Mutations) Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0030133 Thrombotic Risk Panel with Reflex to Factor V Leiden (Partial Thromboplastin Time, Factor VIII Activity, Total homocysteine, Prothrombin G20210A, APC Resistance Profile) Thrombotic Risk Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting
0056200 Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) Thrombotic Risk Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting
—see Familial Adenomatous Polyposis Turcot Syndrome
0080355 Tyrosine, Plasma (monitoring only) Tyrosine Tyrosinemia
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping (Irinotecan Sensitivity) UGT1A1 Genotyping Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
2004208 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD
2002001 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD
2004212 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD
2004250 Very Long-Chain and Branched-Chain Fatty Acids Profile VLCFA VLCFA, peroxisomal biogenesis, PBD, zellweger, Infantile Refsum, adrenoleukodystrophy, XALD
2002970 Von Hippel-Lindau (VHL) Sequencing Von Hippel-Lindau/Congenital Polycythemia Congenital polycythemia
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia Brain Tumors, Pheochromocytoma
2002988 Von Hippel-Lindau (VHL) Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia Brain Tumors, Pheochromocytoma
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations von Willebrand Disease
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons von Willebrand Disease
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing von Willebrand Disease
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing von Willebrand Disease
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing von Willebrand Disease
2004358 Warfarin Genotyping Plus Warfarin Genotyping
0051370 Warfarin Sensitivity (CYP2C9 & VKORC1 ) 3 Mutations Warfarin Genotyping Warfarin metabolism, Coumadin, Pharmacogenetics (PGx), cytochrome P450 2C9, CYP2C9*2, CYP2C9*3, c.-1639G>A
—see Multiple Endocrine Neoplasia Type 1 Wermer Syndrome
2001778 Y Chromosome Microdeletion Y Chromosome Microdeletion Male Infertility, PCR
0050547 Twin Zygosity (16 markers) Zygosity Testing Fetal zygosity, mono/dizygotic differentiation