ARUP Genetics Test Menu

Test # Test Name Additional Information Test Keywords
2002420 5-Fluorouracil Sensitivity (DPYD, TYMS, and MTHFR) 8 Mutations Technical Bulletin 5-Fluorouracil Sensitivity 5-FU, 5-Fluorouracil Sensitivity, Pharmacogenetics (PGx), Colorectal Cancer
—see Diamond-Blackfan Anemia AASE-Smith Syndrome II
—see HLA-B*5701 Abacavir Sensitivity
0051266 Achondroplasia (FGFR3) 2 Mutations Achondroplasia AD PCR, Skeletal Dysplasias, Neuroblastoma
0051265 Achondroplasia Mutation, Fetal Achondroplasia AD PCR FE, Skeletal Dysplasias
0040033 Acylcarnitine Quantitative Profile, Plasma Acylcarnitine ACYLCARN, Mitochondrial Diseases
0081110 Carnitine Panel Acylcarnitine CARNPAN, Mitochondrial, acylcarnitine, free and total carnitine
0081170 Acylglycine, Quantitative, Urine Acylglycine ACYLGLY
—see Beta-2-Adrenergic Receptor ADBR2
2006230 Alagille Syndrome (JAG1) by Targeted Sequencing and Deletion/Duplication Alagille Syndrome
—see Alagille Syndrome Alagille-Watson Syndrome
—see Hemoglobinopathies Alpha Thalassemia
0051256 Alpha-1-Antitrypsin & A1A Genotype with Reflex to Phenotype Alpha-1-Antitrypsin A1A GENO, AAT
0051710 Alport Syndrome, Adult Type (COL4A5), 3 Mutations Alport Syndrome ALPORT DNA
2002394 Alport Syndrome, X-linked (COL4A5) Deletion/Duplication Alport Syndrome ALPORT DD
2002398 Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication Alport Syndrome ALPORT FGA
0051786 Alport Syndrome, X-linked (COL4A5) Sequencing Alport Syndrome ALPORT FGS
0080137 Amino Acids Quantitative, CSF Amino Acids CSFAA QNT
0080710 Amino Acids Quantitative, Plasma Amino Acids AA QNT
0080044 Amino Acids Quantitative, Urine Amino Acids UAA QNT
0080427 Alpha Fetoprotein (Amniotic Fluid) with Reflex to Acetylcholinesterase and Fetal Hemoglobin Amniotic Fluid Alpha Fetoprotein AFP AF, Prenatal Screening and Diagnosis
—see Hypertrophic Cardiomyopathy Amyloid Cardiomyopathy, Transthyretin-Related
—see Hypertrophic Cardiomyopathy Amyloid Polyneuropathy, Familial
—see Hypertrophic Cardiomyopathy Amyloidosis, Hereditary, Transthyretin-Related
2005564 Angelman Syndrome (UBE3A) Sequencing Angelman Syndrome UBE3A FGS
2005077 Angelman Syndrome and Prader-Willi Syndrome by Methylation Angelman Syndrome AS PWS, Angelman, Prader-Willi, Neurocognitive Impairments
2002299 Chromosome FISH, Metaphase Please specify which FISH probe you wish to order. Angelman Syndrome CHR FISHM, 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) APO B, Risk Markers - CVD (Non-traditional)
0055566 Apolipoprotein E (APOE) 2 Mutations, Cardiovascular Risk Apolipoprotein E (APOE) APO E, Risk Markers - CVD (Non-traditional)
—see Diamond-Blackfan Anemia Aregenerative Anemia, Chronic Congenital
—see Arrhytmogenic Right Ventricular Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia
2006216 Arrhytmogenic Right Ventricular Cardiomyopathy (ARVC) Panel, 7 Genes Arrhytmogenic Right Ventricular Cardiomyopathy
—see Alagille Syndrome Arteriohepatic Dysplasia
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) AJP, ewish Genetic, Fanconi's, Fanconis
—see Familial Adenomatous Polyposis Attenuated FAP
—see LMNA-Related Disorders Atypical Werner Syndrome
—see PTEN Bannayan-Riley-Ruvalcaba Syndrome
—see Hemoglobinopathies Beta Globin
0051288 Beta-2-Adrenergic Receptor Gene Haplotyping (Arg16Gly, Gln27Glu) Beta-2-Adrenergic Receptor ADRB2 HAP
0093362 Biotinidase, Serum (with paired normal control) Biotinidase BTD ENZ, biotinidase enzyme, multiple carboxylase
0051730 Biotinidase Deficiency (BTD) Sequencing Biotinidase Deficiency BTD FGS, Multiple carboxylase
0051700 Biotinidase Deficiency (BTD), 5 Mutations Biotinidase Deficiency BTD MUT, Multiple carboxylase
2004739 Blood Group Genotyping by Microarray Blood Group Genotyping BLD GROUP8
0051433 Bloom Syndrome (BLM) 2281del6/ins 7 Mutation Bloom Syndrome BLM, Jewish Genetic
0051434 Bloom Syndrome (BLM) 2281del6/ins 7 Mutation, Fetal Bloom Syndrome BLM FE, Jewish Genetic
—see Juvenile Polyposis BMPR1A
—see Lynch Syndrome BRAF V600E Mutation
2006218 Brugada Syndrome Panel, 7 Genes Brugada Syndrome
0051453 Canavan Disease (ASPA) 4 Mutations Canavan Disease ASPA, Jewish Genetic
0051454 Canavan Disease (ASPA) 4 Mutations, Fetal Canavan Disease ASPA FE, Jewish Genetic
—see Brugada Syndrome Cardiac Conduction Defect, Nonspecified
0081110 Carnitine Panel Carnitine CARNPAN, Mitochondrial, acylcarnitine, free and total carnitine
0080512 Carnitine Transport, Fibroblasts Carnitine CARNIFIBRO
0080068 Carnitine, Free and Total, Plasma Carnitine CARN F&T, OCTN2, carnitine uptake
0081308 Carnitine, Free and Total, Urine Carnitine CARN URINE, OCTN2, carnitine uptake
0080065 Carnitine, Free, Plasma Carnitine CARN
0080067 Carnitine, Total, Plasma Carnitine CARN TOTAL
2004199 Carnitine Deficiency, Primary (SLC22A5) Deletion/Duplication Carnitine Deficiency, Primary PCD DELDUP, OCTN2, carnitine uptake
0051682 Carnitine Deficiency, Primary (SLC22A5) Sequencing Carnitine Deficiency, Primary PCD FGS, OCTN2, carnitine uptake
2004203 Carnitine Deficiency, Primary (SLC22A5) Sequencing and Deletion/Duplication Carnitine Deficiency, Primary PCD FGA, OCTN2, carnitine uptake
2006224 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel, 3 Genes Catecholaminergic Polymorphic Ventricular Tachycardia
2004927 CDKL5-Related Disorders (CDKL5) Deletion and Duplication CDKL5-Related Disorders CDKL5 DD, X-linked infantile spasm
2004931 CDKL5-Related Disorders (CDKL5) Sequencing CDKL5-Related Disorders CDKL5 FGS, X-linked infantile spasm
2004935 CDKL5-Related Disorders (CDKL5) Sequencing and Deletion/Duplication CDKL5-Related Disorders CDKL5 FGA, X-linked infantile spasm
2005018 Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Celiac Disease HLA CELIAC
2003152 CCM1 Sequencing Cerebral Cavernous Malformation (CCM) CCM1 FGS, Cerebral Cavernous Malformation
2003172 CCM1, CCM2, and CCM3 Deletion/Duplication Cerebral Cavernous Malformation (CCM) CCM DELDUP, Cerebral Cavernous Malformation
2003164 CCM1, CCM2, and CCM3 Sequencing and Deletion/Duplication Cerebral Cavernous Malformation (CCM) CCM COMP, Cerebral Cavernous Malformation
2003156 CCM2 Sequencing Cerebral Cavernous Malformation (CCM) CCM2 FGS, Cerebral Cavernous Malformation
2003160 CCM3 Sequencing Cerebral Cavernous Malformation (CCM) CCM3 FGS, Cerebral Cavernous Malformation
—see LMNA-Related Disorders Charcot-Marie-Tooth, Type 2B1
—see CHARGE Syndrome CHARGE Association – Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
2006222 CHARGE Syndrome (CHD7) Sequencing CHARGE Syndrome
2002067 Chimerism, Donor Chimerism STR-DONOR
2002066 Chimerism, Post-Transplant Chimerism STR-POST
2002064 Chimerism, Post-Transplant, Sorted Cells Chimerism STR-POSTSC
2002065 Chimerism, Recipient Pre-Transplant Chimerism STR-PRE
—see Citrin Deficiency Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency
—see Alagille Syndrome Cholestasis with Peripheral Pulmonary Stenosis
2006261 Citrin Deficiency (SLC25A13) Sequencing Citrin Deficiency
2006220 Congenital Amegakaryocytic Thrombocytopenia (CAMT) Sequencing Congenital Amegakaryocytic Thrombocytopenia
—see Hearing Loss Connexin 26 (GJB2)
—see Hearing Loss Connexin 30 (GJB6)
2002293 Chromosome Analysis, Amniotic Fluid Constitutional Studies CHR AF, 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 Technical Bulletin
Send-out test 		Constitutional Studies BREAKAGE, Fanconi anemia, Fanconi’s, Fanconis, diagnostic
2002291 Chromosome Analysis, Chorionic Villus Sampling (CVS) Constitutional Studies CHR CVS, 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 CHR PB, 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 PB REFLEX, 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 CHR POC, 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 POC REFLEX, 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 CHR R/OM, 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 SCE, Bloom, diagnostic
2002286 Chromosome Analysis, Skin Biopsy Constitutional Studies CHR SKIN, tissue, karyotype, mosaic, mosaicism
2005749 Chromosome Analysis—Breakage, Ataxia Telangiectasia, Whole Blood Technical Bulletin
Send-out test 		Constitutional Studies BREAKAGEAT, Ataxia Telangiectasia, AT, diagnostic
—see PTEN Cowden Syndrome
2002328 Creatine Disorders Panel, Plasma or Serum Creatine CRTN DIS P, GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
2002333 Creatine Disorders Panel, Urine Creatine CRTN DIS U, GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
2001875 Creatine Transport, Fibroblasts Creatine CRTN FIBRO, GAMT, AGAT, SLC6A8, guanidinoacetate, GAA
2001967 Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing and Reflex to Deletion/Duplication Cystic Fibrosis CF COMPR, Diagnostic, CF
0051642 Cystic Fibrosis (CFTR) Deletion/Duplication Cystic Fibrosis CFTRDELDUP, Diagnostic, CF
0051640 Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication Cystic Fibrosis CFTR FGA, Diagnostic, CF
0050098 Cystic Fibrosis (CFTR) 3199del6 Mutation Cystic Fibrosis CF3199DEL6, I148T, CF
2001933 Cystic Fibrosis (CFTR) 32 Mutations Cystic Fibrosis CF PAN, Jewish Genetic, pregnancy screen, carrier screen, CF, mutation panel, common mutations
2001968 Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing Cystic Fibrosis CF PAN-SEQ, Diagnostic, CF
2001969 Cystic Fibrosis (CFTR) 32 Mutations, Atypical Cystic Fibrosis CF PAN 5T, Male infertility, CF, 5T, mutation panel, common mutations
2001970 Cystic Fibrosis (CFTR) 32 Mutations, Fetal Cystic Fibrosis CF PAN FE, Common mutations, prenatal, amnio, amniotic fluid, CVS, chorionic villi, CF, mutation panel
0056003 Cystic Fibrosis (CFTR) 5T Mutation Cystic Fibrosis IVS-8, CF
0051110 Cystic Fibrosis (CFTR) Sequencing Cystic Fibrosis CF-CFTR, Diagnostic, CF
0056006 Cystic Fibrosis Cis-Trans (CFTR) R117H & 5T Mutations Cystic Fibrosis CFCIS-TRAN, CF
0081106 Cystine Quantitative, Urine Cystine QNT CYS U, Cystinuria
0081105 Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine Cystine CYS PAN
0051104 Cytochrome P450 2C19 (CYP2C19) 9 Mutations Cytochrome P450 CYP2C19, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
0051103 Cytochrome P450 2C9 (CYP2C9) 2 Mutations Technical Bulletin Cytochrome P450 CYP2C9, Warfarin Sensitivity, Pharmacogenetics (PGx)
0051232 Cytochrome P450 2D6 (CYP2D6) 14 Mutations and Gene Duplication Cytochrome P450 CYP 2D6, Tamoxifen, Pharmacogenetics (PGx), Schizophrenia, Breast Cancer, breast biomarkers
—see Hypertrophic Cardiomyopathy Danon Disease
2003326 deCODE ProstateCancer (Genetic Risk Assessment) deCODE ProstateCancer™ PROST CAN, Prostate Cancer
—see Insulin Resistance Syndromes Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A
2006236 Diamond-Blackfan Anemia (RPL11) Sequencing Diamond-Blackfan Anemia
2006234 Diamond-Blackfan Anemia (RPL5) Sequencing Diamond-Blackfan Anemia
2006238 Diamond-Blackfan Anemia (RPS19) Sequencing Diamond-Blackfan Anemia
2006226 Dilated Cardiomyopathy (DCM)/Left Ventricular Noncompaction (LVNC) Panel, 27 genes Dilated Cardiomyopathy/Left Ventricular Noncompaction
—see Insulin Resistance Syndromes Donohue Syndrome
2006244 Dyskeratosis Congenita, Autosomal (TERC) Sequencing Dyskeratosis Congenita
2006228 Dyskeratosis Congenita, X-linked (DKC1) Sequencing Dyskeratosis Congenita
—see Marfan Syndrome Ectopia Lentis, Isolated
2005555 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI DD
2005559 Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS-VI FGA
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form) EDS6
—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) PCDH19
—see Diamond-Blackfan Anemia Erythrogenesis Imperfecta
2006332 Exome Sequencing with Symptom-Guided Analysis Exome
2006342 Exome Sequencing Control, Family Member Exome
—see Hypertrophic Cardiomyopathy Fabry Disease, Cardiac Variant
0097720 Factor V Leiden (F5) R506Q Mutation Factor V Leiden FACV, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
0030192 Factor V Leiden Functional Assay with Reflex to PCR Factor V Leiden APC R, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2001549 Factor V, R2 Mutation Factor V Leiden F5 R2, Venous thrombosis, Thromboembolism, Thrombophilia, clotting, A4070G
2003220 Factor XIII (F13A1) V34L Variant (assess thrombotic risk in Caucasians) Factor XIII (F13A1) V34L Variant FAC 13 MUT, Venous thrombosis, Thromboembolism, Thrombophilia, clotting
2004911 MUTYH-Associated Polyposis (MUTYH) 2 Mutations Familial Adenomatous Polyposis MYH SEQ, Hereditary Colorectal Cancer
2006307 MUTYH-Associated Polyposis (MUTYH) 2 Mutations with Reflex to Sequencing Familial Adenomatous Polyposis
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing Familial Adenomatous Polyposis
2004920 Familial Adenomatous Polyposis (APC) Deletion and Duplication Familial Adenomatous Polyposis APC DELDUP, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
2004863 Familial Adenomatous Polyposis (APC) Sequencing Familial Adenomatous Polyposis APC FGS, Colorectal Cancer, colon cancer, CRC, polyps, Familial Adenomatious Polyposis FAP, familial cancer
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations Familial Adenomatous Polyposis FAP Panel, Familial Adenomatious Polyposis familial cancer, Colorectal Cancer, colon cancer, CRC, polyps, FAP, familial cancer
0051463 Dysautonomia, Familial (IKBKAP) 2 Mutations Familial Dysautonomia IKBKAP, Jewish Genetic Disease
0051464 Dysautonomia, Familial (IKBKAP) 2 Mutations, Fetal Familial Dysautonomia IKBKAP FE, Jewish, Ashkenazi, prenatal, amnio, amniotic fluid, CVS, chorionic villi
2002658 Familial Mediterranean Fever (MEFV) Sequencing Familial Mediterranean Fever (MEFV) FMF FGS, DNA
2001961 Familial Mutation, Targeted Sequencing Familial Mutation Testing SEQ FSM
2001980 Familial Mutation, Targeted Sequencing, Fetal Familial Mutation Testing SEQ FSM FE, 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 FANCC, Jewish, Ashkenazi, Fanconi's, Fanconis, carrier testing, DNA
0051469 Fanconi Anemia Group C, FANCC Gene Mutations, Fetal Fanconi Anemia Group C FANCC FE, Jewish, Ashkenazi, DNA, prenatal, amnio, amniotic fluid, chorionic villi, CVS, cultured cells, Fanconi's, Fanconis
—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 SCN1A COM
2006069 Febrile Seizures Panel Send-out test Febrile Seizures FEBRIL PAN
0051752 FG Syndrome, FGS1 (MED12) R961W Mutation FG Syndrome FGS 1, Opitz-Kaveggia, Mental retardatio, developmental delay, macrocephaly, imperforate anus
0040208 Aneuploidy Panel by FISH FISH (Constitutional)—Aneuploidy Panels FISHANEU, 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 FISHCVS, 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 CHR FISHP, 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 CHR FISHM, 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 FRAG 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 FRAG X SCR, Amenorrhea, Neurocognitive Impairment, mental retardation, X-linked, developmental delay, autism, PDD, ASD, premature ovarian failure, ataxia
0050543 Fragile X Syndrome, Fetal Fragile X FRAG X FE, 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) FSS SEQ, Distal Arthrogryposis Type 2A, Congenital contractures
0051684 Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A) G6PD Deficiency G6PD AFRIC, Hemolytic Anemias
0081296 Galactose-1-Phosphate in Red Blood Cells Galactosemia GAL1P RBC, Galactosemia, GALT
0080125 Galactose-1-Phosphate Uridyltransferase, Whole Blood Galactosemia G1PUT, Galactosemia, GALT
0051346 Galactosemia (GALT) Sequencing Galactosemia GALT FGA, Galactosemia
0051270 Galactosemia, (GALT ) 9 Mutations, Fetal Galactosemia GALTDNA FE, Galactosemia
0051176 Galactosemia, (GALT) 9 Mutations Galactosemia GALTDNA, Galactosemia
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations Galactosemia GALTPAN, Galactosemia
—see Familial Adenomatous Polyposis Gardner Syndrome
0051438 Gaucher Disease (GBA) 8 Mutations Gaucher Disease GBA, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase
0051439 Gaucher Disease (GBA) 8 Mutations, Fetal Gaucher Disease GBA FE, Jewish Genetic, Glucocerebrosidase, Glucosylceramidase deficiency
2003414 Cytogenomic SNP Microarray Genomic Microarray CMA SNP, array, CGH, aCGH, CNV, mental retardation, developmental delay, anomalies, birth defects, CMA, snip, LOH, UPD, uniparental disomy
2006267 Cytogenomic SNP Microarray Buccal Sponge Genomic Microarray
2006325 Cytogenomic SNP Microarray—Oncology Technical Bulletin Genomic Microarray
2005633 Genomic SNP Microarray, Products of Conception Genomic Microarray ARRAY POC, conception, amnio, amniotic fluid, CVS, villi, cultured cells
2002366 Microarray Genomic, Fetal Genomic Microarray ARRAY FE, 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 X ARRAY, 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 FAM, Array, CGH, aCGH, parental
0051476 Primary Congenital Glaucoma (CYP1B1) Sequencing Glaucoma, Primary Congenital (CYP1B1) CYP1B1, Cytochrome P4501B1
2001510 Glutarylcarnitine, Quantitative, Urine Glutarylcarnitine C5DC URINE, GA1, glutaric acidemia type I
—see Celiac Disease Gluten-Sensitive Enteropathy
—see CHARGE Syndrome Hall-Hittner Syndrome
0040116 Haptoglobin (HP) Genotyping Haptoglobin HAPTO PCR, Diabetes Mellitus, Cardiovascular risk
0051374 Connexin 26 (GJB2) Sequencing Hearing Loss CX26SEQ, Hearing Loss
2001956 Connexin 30 (GJB6) 2 Deletions Hearing Loss GJB6 DEL, Hearing Loss
2002044 Hearing Loss, Nonsyndromic Mitochondrial DNA 2 Mutations Hearing Loss HL MTDNA, m.1555A>G, m.7445A>G
2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations Hearing Loss HL PANEL, m.1555A>G, m.7445A>G, Connexin 26, Connexin 30
0051383 Hearing Loss, Nonsyndromic, Connexin 26 (GJB2) 35delG Mutation Hearing Loss CX 35DELG
—see Hemoglobinopathies Hemoglobin Lepore
0051495 Alpha Thalassemia, HBA1 & HBA2, Gene Deletions Hemoglobinopathies ALPHA THAL, Hemoglobinopathies
2001582 Alpha Thalassemia, HBA1 & HBA2, Sequencing Hemoglobinopathies AG FGS, Hemoglobinopathies
0051422 Beta Globin (HBB) HbS, HbC, and HbE Mutations, Fetal Hemoglobinopathies HB SCE FE
0050578 Beta Globin (HBB) Sequencing Hemoglobinopathies BGSEQ, Thalassemias, Hemoglobinopathies
0051421 Beta Globin HbS, HbC, HbE Detection Hemoglobinopathies HB SCE, Sickle cell
2005792 Hemoglobin Evaluation Reflexive Cascade Hemoglobinopathies HB CASCADE
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations Hemoglobinopathies LEPORE, 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 Hemoglobinopathies HPFH
2001759 Hemophilia A (F8) 2 Inversions Hemophilia A F8 INV, Factor VIII, Factor 8, bleeding, classic hemophilia
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Hemophilia A F8 COMP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001755 Hemophilia A (F8) 2 Inversions, Fetal Hemophilia A F8 INV FE, Factor VIII, Factor 8, bleeding, classic hemophilia
2001751 Hemophilia A (F8) Deletion/Duplication Hemophilia A F8 DELDUP, Factor VIII, Factor 8, bleeding, classic hemophilia
2001747 Hemophilia A (F8) Sequencing Hemophilia A F8 FGS, Factor VIII, Factor 8, bleeding, classic hemophilia
2001578 Hemophilia B (F9) Sequencing Hemophilia B F9 FGS, Factor IX, Factor 9, bleeding, Christmas
—see Alagille Syndrome Hepatic Ductular Hypoplasia, Syndromatic
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C) Hereditary Hemochromatosis HFE PCR, HFE-associated hemochromatosis, HFE-HHC, iron overload
0051348 ACVRL1 and ENG Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT DELDUP, hereditary hemorrhagic telangiectasia
0051381 ACVRL1 and ENG Sequencing Hereditary Hemorrhagic Telangiectasia (HHT) HHT-FGS, hereditary hemorrhagic telangiectasia
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication Hereditary Hemorrhagic Telangiectasia (HHT) HHT FGA, hereditary hemorrhagic telangiectasia
—see Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia (HHT)
—see Lynch Syndrome Hereditary Non-Polyposis Colon Cancer (HNPCC)
—see Hemoglobinopathies Hereditary Persistence of Fetal Hemoglobin
2002429 HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity HLA-B*5701 (Abacavir Sensitivity) Genotyping HLA-B5701, Pharmacogenetics (PGx), HIV Drug Resistance, HIV, Abacavir sensitivity, Ziagene, Abacavir hypersensitivity, ABC HSR
0050392 Ankylosing Spondylitis (HLA-B27) Genotyping HLA-B27 (Ankylosing Spondylitis) Genotyping HLAB27 PCR, IBD
—see Celiac Disease HLA-DQA1*05, HLA-DQB1*02, and *03
0080413 Homocystine, Quantitative, Urine Homocystine HOMOCYS-U, Homocystinuria, cystathione beta synthase
0040018 Huntington Disease (HD) Mutation with Reflex to Southern Blot Huntington Disease HD, Huntington chorea, CAG trinucleotide repeats, HTT
—see LMNA-Related Disorders Hutchinson-Gilford Progeria Syndrome
0080328 Hydroxyproline, Total, Urine Hydroxypoline HPR T
—see Insulin Resistance Syndromes Hyperinsulinemic Hypoglycemia, Familal, 5
0051367 Hypochondroplasia (FGFR3) 2 Mutations Hypochondroplasia HYPOCH, 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 INSULFIBRO
2006274 Inherited Insulin Resistance Syndromes (INSR) Sequencing Technical Bulletin Insulin Resistance Syndromes
2006344 Inosine Triphosphate (ITPA) and Interleukin 28 B (IL28B)-Associated Variants, 4 SNPs Technical Bulletin Interleukin 28 B Associated SNP—Genotyping
2004680 Interleukin 28 B (IL28B)—Associated Variants, 2SNPs Interleukin 28 B Associated SNP—Genotyping IL28B, Hepatitis C Virus (HCV), peginterferon, interferon, PEG-IFNα
2004984 Juvenile Polyposis (BMPR1A) Deletion/Duplication Juvenile Polyposis BMPR1A DD, JPS, SMAD4
2004988 Juvenile Polyposis (BMPR1A) Sequencing Juvenile Polyposis BMPR1A FGS, JPS, SMAD4
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication Juvenile Polyposis BMPR1A FGA, JPS, SMAD4
2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication Juvenile Polyposis SMAD4 DD, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS
0051510 Juvenile Polyposis (SMAD4) Sequencing Juvenile Polyposis SMAD4 SEQ, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS, Myhre
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication Juvenile Polyposis SMAD4 FGA, Hereditary Hemorrhagic Telangiectasia (HHT), JP/HHT, BMPR1A, JPS
0051644 Kell Antigen Genotyping (KEL1/KEL2) Kell Antigen Genotyping KEL, Hemolytic Disease of the Newborn, K/k, Kell/Cellano
2002945 Legius Syndrome (SPRED1) Sequencing and (NF1) Sequencing Exon 22 (Exon 17) Legius Syndrome LS FGS, Neurofibromatosis, LS, NF 1-like
—see Insulin Resistance Syndromes Leprechaunism
—see LMNA-Related Disorders Limb-Girdle Muscular Dystrophy, Type1B
—see Schwachman-Diamond Syndrome Lipomatosis of Pancreas, Congenital
2004539 LMNA-Related Disorders (LMNA) Deletion/Duplication LMNA–Related Disorders LMNA DD, 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 LMNA FGS, 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 LDS DELDUP, Loeys-Dietz, aortic aneurysm
2002705 TGFBR1 & TGFBR2 Sequencing Loeys-Dietz Syndrome LDS FGS, Loeys-Dietz, aortic aneurysm
2002701 TGFBR1 & TGFBR2 Sequencing and Deletion/Duplication Loeys-Dietz Syndrome LDS FGA, Loeys-Dietz, aortic aneurysm
2006232 Long QT Syndrome (LQTS) Panel, 12 Genes Long QT Syndrome
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation Lynch Syndrome BRAF RFLX, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers
2002499 MLH1 Promoter Methylation, Paraffin Lynch Syndrome MLH1PCR, Colorectal Cancer, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Tumor Markers
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication Lynch Syndrome MLH1 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Lynch Syndrome MSH2 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplicatio Lynch Syndrome MSH6 FGA, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Lynch Syndrome PMS2 FGA, 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 HNPCC DD, Hereditary Nonpolyposis Colorectal Cancer, Colorectal Cancer, MLH1, MSH2, MSH6, PMS2, mismatch repair, Muir-Torre, Turcot, Lynch Syndrome
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 FBN1 DD
2005589 Marfan Syndrome (FBN1) Sequencing Marfan Syndrome FBN1 FGS
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication Marfan Syndrome FBN1 FGA
—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) MCADPCR, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation
0051758 MCAD Deficiency (ACADM) Sequencing Medium Chain Acyl-CoA Dehydrogenase (MCAD) MCAD FGS, Medium-chain acyl-coa dehydrogenase, fatty acid oxidation
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations Methylenetetrahydrofolate Reductase (MTHFR) MTHFR PCR, Thrombophilia, methotrexate sensitivity, cardiovascular, C677T, A1298C
2005255 Methylmalonic Acid, Serum or Plasma (Metabolic Disorders) Methylmalonic Acid MMA METD
0051740 HNPCC/Lynch Syndrome, Microsatellite Instability by PCR Microsatellite Instability (MSI) MSI PCR, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Lynch Syndrome, Tumor Markers, MSI, MLH1, MSH2, MSH6, PMS2, mismatch repair
0049302 Mismatch Repair by Immunohistochemistry Microsatellite Instability (MSI) MSI, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Microsatellite Instability (MSI) MSI MLH1, Hereditary Nonpolyposis Colorectal Cancer, HNPCC, Colorectal Cancer, Tumor Markers, MLH1, MSH2, MSH6, PMS2, mismatch repair, IHC, Lynch
2006050 Mitochondrial Disorders (108 Nuclear Genes) Sequencing Mitochondrial Disorders (Mitochondrial and Nuclear Genes) MT N SQ, Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006065 Mitochondrial Disorders (mtDNA) Sequencing Mitochondrial Disorders (Mitochondrial and Nuclear Genes) MT SEQ, Mitochondrial, mitochondria, mtDNA
2006054 Mitochondrial Disorders Panel (mtDNA and 108 Nuclear Genes) Sequencing and Deletion/Duplication Mitochondrial Disorders (Mitochondrial and Nuclear Genes) MT PANEL, Mitochondrial, mitochondria, heteroplasmy, mtDNA
2006061 Mitochondrial Genome (mtDNA and 108 Nuclear Genes) Deletion/Duplication Mitochondrial Disorders (Mitochondrial and Nuclear Genes) MT DD, Mitochondrial, mitochondria, heteroplasmy, mtDNA
—see Lynch Syndrome MLH1 Promoter Methylation
0051755 Molar Pregnancy, 16 DNA Markers Molar Pregnancy MOL PREG, Gestational Trophoblastic Disease
0051448 Mucolipidosis IV (MCOLN1) 2 Mutations Mucolipidosis IV MCOLN1, Jewish Genetic, lysosomal
0051449 Mucolipidosis IV (MCOLN1) 2 Mutations, Fetal Mucolipidosis IV MCOL FE, Jewish Genetic, lysosomal
0081352 Mucopolysaccharides Electrophoresis and Quantitation, Urine Mucopolysaccharidoses (MPS) MPS SCREEN, Hurler, Hunter, Scheie, Sanfilippo, Maroteaux-Lamy, Morquio, Sly, glycosaminoglycan, GAG
0081357 Mucopolysaccharides, Quantitative, Urine Mucopolysaccharidoses (MPS) MPS QNT, Hurler, Hunter, Scheie, Sanfilippo, Maroteaux-Lamy, Morquio, Sly, glycosaminoglycan, GAG
—see Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Adenomatosis
2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing Multiple Endocrine Neoplasia Type 1 (MEN1) MEN1 FGS, 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) MEN1 FGA, 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) MEN2 SEQ, 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 and A883F Mutations Multiple Endocrine Neoplasia Type 2 (MEN2) MEN 2 B, 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, 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 SMPD1, 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 SMPD1 FE, 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 PTPN11 FGS, Neurocognitive Impairments, NS, SOS1, Leopard, Noonan-like/multiple giant-cell lesion, Metachondromatosis
2004195 Noonan Syndrome (SOS1) Sequencing Noonan Syndrome SOS1 FGS, Neurocognitive Impairments, NS, PTPN11, Leopard, Noonan-like/multiple giant-cell lesion
2004189 Noonan Syndrome PTPN11 Sequencing with Reflex to SOS1 Sequencing Noonan Syndrome NS REFLEX, Neurocognitive Impairments, NS, Leopard, Noonan-like/multiple giant-cell lesion
2005656 Ogden Syndrome (NAA10) Sequencing Exon 2 Ogden Syndrome NAA10 SEQ
2002292 Chromosome Analysis, Bone Marrow Oncology Studies CHR BM, 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 CHR LKB, Chronic Lymphocytic Leukemia (CLL), Acute Myeloid Leukemia (AML), blasts, blast, karyotype
2002300 Chromosome Analysis, Lymph Node Oncology Studies CHR ONC, biopsy, karyotype, cancer, oncology, lymphoma
2002296 Chromosome Analysis, Solid Tumor Oncology Studies CHR ST, Sarcoma, Ewings
2002363 PML-RARA Translocation by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH PML, Acute Myeloid Leukemia (AML), Tumor Markers
2002647 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Adult Oncology Studies, FISH—Blood and Bone Marrow Panels FISH A ALL, B-Cell Lymphoma
2002719 Acute Lymphocytic Leukemia (ALL) Panel by FISH, Pediatric Oncology Studies, FISH—Blood and Bone Marrow Panels FISH P ALL, 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 F TAML MDS, Myelodysplastic, Acute Myeloid Leukemia
2002384 Acute Myelogenous Leukemia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH AML P, Acute Myeloid Leukemia, AML, Myeloproliferative, MPD
2002295 Chromosome FISH, CLL Panel Oncology Studies, FISH—Blood and Bone Marrow Panels FISH CLLP, Chronic Lymphocytic Leukemia, CLL, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers
2006270 Chromosome FISH, Multiple Myeloma Panel Process and Hold Oncology Studies, FISH—Blood and Bone Marrow Panels
2002378 Eosinophilia Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH EOS P, 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 FISH ALYMP, Lymphoma Phenotyping, B-Cell Lymphomas, Lymphoproliferative Disorders (LPD)
2002294 Multiple Myeloma Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH MMP, Plasma Cell Dyscrasias
2002709 Myelodysplastic Syndrome (MDS) Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH MDS P, Myelodysplastic Syndrome (MDS)
2002360 Myeloproliferative Disorders Panel by FISH Oncology Studies, FISH—Blood and Bone Marrow Panels FISH MPD P, Chronic Myelogenous Leukemia (CML), Myeloproliferative Neoplasms (MPN)
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 CHR FISHI, 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 CHR FISHI, 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 PF, Pancreatic Cancer, Tumor Markers
8100600 UroVysion™ FISH Oncology Studies, FISH—Other UF, Bladder Cancer, Tumor Markers, urine
0049360 1p/19q Deletion by FISH Oncology Studies, FISH—Paraffin Block 1P19Q, Oncology, Paraffin, Brain Tumors, Tumor
0049378 DDIT3 (CHOP) (12q13) Gene Rearrangement by FISH Oncology Studies, FISH—Paraffin Block CHOPFISH, Sarcoma, myxoid liposarcoma, round cell liposarcoma
0049218 ERBB2 (HER-2/neu) Gene Amplification by FISH Oncology Studies, FISH—Paraffin Block HER2FISH, Breast Cancer, Tumor Markers, FISH, herceptin, HER2, HER-2, neu, HER2/neu
0049335 EWSR1 (22q12) Gene Rearrangement by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block EWSR1, Ewing Sarcoma, Sarcoma, Tumor Markers
2001497 FOXO1 (FKHR) (13q14) Gene Rearrangement by FISH Oncology Studies, FISH—Paraffin Block FKHRFISH, Sarcoma, FOX, FOXO1, 13q14, alveolar rhabdomyosarcoma
2001536 IGH-BCL2 Fusion, t(14;18) by FISH Oncology Studies, FISH—Paraffin Block Plasma Cell Dyscrasias, Lymphoma Phenotyping, B-Cell Lymphomas
0049381 IGH-CCND1 Fusion, t(11;14) by FISH Oncology Studies, FISH—Paraffin Block IGHCCNFISH, Lymphoma Phenotyping, B-Cell Lymphomas, Tumor Markers
2001538 IGH-MYC Fusion t(8;14) by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block IGHMYCFISH, Lymphoma Phenotyping, B-Cell Lymphomas
2003016 MDM2 Gene Amplification by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block MDM2 FISH, Sarcoma, Tumor Markers, MDM2, Murine Double Minute 2
2002345 MYC (8q24) Gene Rearrangement by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block LSIMYCFISH, B-Cell Lymphomas, Tumor Markers
0049235 MYCN (N-MYC) Gene Amplification by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block NMYC, Neuroblastoma, Tumor Markers
0049380 SS18 (SYT) (18q11) Gene Rearrangement by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block SYTFISH, Sarcoma, Tumor Markers, Synovial Sarcoma
0049234 EGFR by FISH Technical Bulletin Oncology Studies, FISH—Paraffin Block EGFRFISH, Head and Neck Cancer, Lung Cancer
2006325 Cytogenomic SNP Microarray—Oncology Technical Bulletin Oncology Studies, Microarray
0099289 Organic Acids, Plasma Organic Acids ORG AC P
0098389 Organic Acids, Urine Organic Acids ORG AC
2004892 Ornithine Transcarbamylase Deficiency (OTC) Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC DELDUP, Urea cycle
2004901 Ornithine Transcarbamylase Deficiency (OTC) Sequencing Ornithine Transcarbamylase Deficiency OTC FGS, Urea cycle
2004896 Ornithine Transcarbamylase Deficiency (OTC) Sequencing and Deletion/Duplication Ornithine Transcarbamylase Deficiency OTC FGA, Urea cycle
0092458 Orotic Acid and Orotidine, Urine Orotic Acid OROTIC ACI, Canavan, N-acetylaspartic, alkaptonuria, homogentesic
—see Schwachman-Diamond Syndrome Pancreatic Insufficiency and Bone Marrow Dysfuction
2002016 Pancreatitis, Hereditary (PRSS1) Sequencing Pancreatitis PRSS1 FGS, Idiopathic pancreatitis, acute pancreatitis, R122H, N29I
2002005 Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing Pancreatitis IP SEQ PAN, Idiopathic pancreatitis, acute pancreatitis, R122H, N29I, N34S, hereditary pancreatitis
2002012 Pancreatitis, Idiopathic (SPINK1) Sequencing Pancreatitis SPINK1 FGS, Idiopathic pancreatitis, acute pancreatitis, N34S
0080336 Phenylalanine and Tyrosine, Plasma (monitoring only) Phenylalanine PHE/TYR, PKU
0080315 Phenylalanine Monitoring, Plasma (monitoring only) Phenylalanine QNTPHE, PKU
—see Insulin Resistance Syndromes Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic abnormalities
2004980 Plasminogen Activator Inhibitor-1, PAI-1 (SERPINE1) Genotyping Plasminogen Activator Inhibitor-1 PAI-1 GENO, 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 HPA1, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051314 Platelet Antigen 15 Genotyping (HPA-15) Platelet Antigen Genotyping HPA15, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051310 Platelet Antigen 2 Genotyping (HPA-2) Platelet Antigen Genotyping HPA2, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051311 Platelet Antigen 3 Genotyping (HPA-3) Platelet Antigen Genotyping HPA3, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051490 Platelet Antigen 4 Genotyping (HPA-4) Platelet Antigen Genotyping HPA4, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051312 Platelet Antigen 5 Genotyping (HPA-5) Platelet Antigen Genotyping HPA5, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051313 Platelet Antigen 6 Genotyping (HPA-6) Platelet Antigen Genotyping HPA6, Perinatal alloimmune thrombocytopenia, post-transfusion purpura, PAT, human platelet antigen, HPA, alloimmunization, NAIT
0051308 Platelet Antigen Genotyping Panel Platelet Antigen Genotyping HPA PAN, 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 CHR FISHM, angelman, Prader-Willi, ichthyosis
—see PTEN Proteus Syndrome
0056060 Prothrombin Nucleotide 20210 G/A Gene Mutation (Factor II) Prothrombin (Factor II) PT PCR, 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 PTENDELDUP, 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 FGS, 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 FGA, 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 BMPR2 DD, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
2003410 Pulmonary Arterial Hypertension (BMPR2) Sequencing Pulmonary Arterial Hypertension, BMPR2-Related BMPR2 FGS, 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 BMPR2 FGA, PAH, familial pulmonary arterial hypertension, idiopathic pulmonary arterial hypertension, BMPR2-related PAH
—see Insulin Resistance Syndromes Rabson-Mendenhall Syndrome
2002730 RASA1-Related Disorders (RASA1) Sequencing RASA1-Related Disorders RASA1 FGS, Capillary-ateriovenous malformations, vascular malformations, CM, port-wine stain, arteriovenous malformations, AVM, CM-AVM, Parkes-Weber, PKWS
—see Diamond-Blackfan Anemia Red Cell Aplasia, Pure, Hereditary
—see LMNA-Related Disorders Restrictive Dermopathy
0051618 MECP2 Deletion/Duplication Rett Syndrome RETTDELDUP, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051614 MECP2 Full Gene Analysis Rett Syndrome RETT FGA, MECP2-related, Rett, atypical Rett, neonatal encephalopathy, PPM-X, neurocognitive impairments
0051378 MECP2 Full Gene Sequencing Rett Syndrome RETT FGS, 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 RHD, Hemolytic Disease of the Newborn, fetal erythroblastosis, isoimmunization, alloimmune hemolytic
0050421 RhCc Antigen (RHCE) Genotyping Rh Genotyping RH C, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
0050423 RhEe Antigen (RHCE) Genotyping Rh Genotyping RH E, Hemolytic Disease of the Newborn, fetal rhesus type, alloimmunization, alloantibodies, maternal-fetal Rh incompatibility
—see Brugada Syndrome Right Bundle Branch Block, ST Segment Elevation, and Sudden Death Syndrome
—see Schwachman-Diamond Syndrome Schwachman-Bodian Syndrome
2006240 Schwachman-Diamond Syndrome (SBDS) Sequencing Schwachman-Diamond Syndrome
—see Febrile Seizures SCN1A-Related Seizure Disorders (SCN1A)
2006242 Short QT Syndrome Panel, 3 Genes Short QT Syndrome
—see Juvenile Polyposis SMAD4
—see Brugada Syndrome Sudden Unexplained Nocturnal Death Syndrome
0051428 Tay-Sachs (HEXA) 7 Mutations Tay-Sachs Disease HEXA, 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 HEXA FE, 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 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations Thanatophoric Dysplasia (FGFR3 Gene Mutations) TD PAN, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0051508 Thanatophoric Dysplasia, Types 1 and 2 (FGFR3) 13 Mutations, Fetal Thanatophoric Dysplasia (FGFR3 Gene Mutations) TD PAN FE, Skeletal Dysplasias, thanatophoric dysplasia, TD1, TD2, R248C, S249C, G370C, S371C, Y373C, K650E, X807G, X807R, X807S, X807L, X807C, X807W, dwarfism
0056200 Thrombotic Risk, DNA Panel (FVL, Factor II, MTHFR) Thrombotic Risk THROMDNA, Thrombophilia, cardiovascular, C677T, A1298C, F2, G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting
0030133 Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden Thrombotic Risk THROM COM, Venous thrombosis, Thromboembolism, Thrombophilia, Factor V Leiden, F5, R506Q, F2, G20210A, thrombosis, plasma prothrombin, clotting
—see Familial Adenomatous Polyposis Turcot Syndrome
0080355 Tyrosine, Plasma (monitoring only) Tyrosine TYRO, Tyrosinemia
0051332 UDP Glucuronosyltransferase 1A1 (UGT1A1) Genotyping UGT1A1 Genotyping UGT1A1, Irinotecan, Pharmacogenetics (PGx), Colorectal Cancer
—see Catecholaminergic Polymorphic Ventricular Tachycardia Ventricular Tachycardia, Stress Induced Polymorphic
2004208 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD DD
2002001 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD FGS
2004212 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL) Sequencing and Deletion/Duplication Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) VLCAD FGA
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 VHL FGS, Congenital polycythemia
2002965 Von Hippel-Lindau (VHL) Sequencing and Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia VHL FGA, Brain Tumors, Pheochromocytoma
2002988 Von Hippel-Lindau (VHL) Deletion/Duplication Von Hippel-Lindau/Congenital Polycythemia VHL DELDUP, Brain Tumors, Pheochromocytoma
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations von Willebrand Disease GP1BA SEQ
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons von Willebrand Disease VWF2A SEQ
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing von Willebrand Disease VWF2B SEQ
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing von Willebrand Disease VWF2M SEQ
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing von Willebrand Disease VWF2N SEQ
2004358 Warfarin Genotyping Plus Warfarin Genotyping WARF PLUS
0051370 Warfarin Sensitivity (CYP2C9 & VKORC1 ) 3 Mutations Warfarin Genotyping WARF GENO, Warfarin metabolism, Coumadin, Pharmacogenetics (PGx), cytochrome P450 2C9, CYP2C9*2, CYP2C9*3, c.-1639G>A
—see Multiple Endocrine Neoplasia Type 1 Wermer Syndrome
2006352 X-Chromosome Inactivation Analysis Technical Bulletin X-Chromosome Inactivation
2001778 Y Chromosome Microdeletion Y Chromosome Microdeletion Y CHROM, Male Infertility, PCR
0050547 Twin Zygosity (16 markers) Zygosity Testing TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation