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Comprehensive Genetic Test Menu Diagnostic Services Genetics Genetic Test Menu Diagnostic Services Genetics Comprehensive Genetic Test Menu Diagnostic Services Genetics Genetic Test Menu Have confidence in our specialized genetic testing experience For over 40 years, Quest Diagnostics has offered a comprehensive menu of Call our team of genetic advanced genetic tests. This testing is counselors at 866-GENE-INFO supported by our highly trained medical (866-436-3463) for specific specialists and genetic counselors, who test information or a clinical are experienced in clinical consultation. consultation. Information is also We lead the way in genetics through available online in our Test Center powerful diagnostic insights that take you at QuestDiagnostics.com or by to the forefront of testing, while meeting calling 866-MY-QUEST the needs of your busy practice. (866-697-8378). We offer over 700 genetic tests, more than any other laboratory. This provides microarray and next-generation us with experience in reviewing both sequencing. With the help of scientists at everyday and rare and difficult cases. our leading-edge research facility, Nichols Institute, and our Lab of the Future in From prenatal to hereditary cancer Marlborough, MA, we continually expand screening to advanced neurological our portfolio of new and innovative tests. diagnostic testing, our genetic tests use the most advanced technologies available, including high-resolution chromosomal We hope this comprehensive test menu is a helpful reference for you. 1 Table of Contents Tests Offered by Quest Diagnostics Biochemical Genetics 3 Cytogenetics—General 4 Cytogenetics—Oncology-related 5 Molecular Genetics—Endocrinology 6 Molecular Genetics—Intellectual Disability/Autism 6 Molecular Genetics—Oncology 6 Molecular Genetics—Pharmacogenomics 7 Molecular Genetics—Prenatal/Reproductive 7 Molecular Genetics—Other 8 Other Genetic Tests 9 Multiple test codes are available. Refer to the Quest Diagnostics Nichols Institute Directory of Services or the online Test Center (QuestDiagnostics.com) for test information. 2 Genetic Test Menu Part 1. Tests Offered by Quest Diagnostics Test Code Test Name Test Code Test Name 16020 First Trimester Screen, Hyperglycosylated hCG BIOCHEMICAL GENETICS (h-hCG)1 Includes PAPP-A, h-hCG, NT, Down syndrome risk, and 4929X Acetylcholinesterase interpretation. 8284N Acetylcholinesterase and Fetal Hemoglobin 500 Glucose-6-Phosphate Dehydrogenase (G-6-PD), Quantitative 14531 Acylcarnitine, Plasma 31789 Homocysteine (Cardiovascular) 17307X Alpha-1-Antitrypsin (AAT) Quantitation and Mutation Analysis1 36362 Homocysteine (Nutritional & Congenital) 91615 Alpha-Fetoprotein and Acetylcholinesterase, 16148 Integrated Screen, Part 11 Amniotic Fluid w/rfl HbF Includes PAPP-A and NT. 1 232Z Alpha-Fetoprotein, Amniotic Fluid with Reflex to 16150 Integrated Screen, Part 2 AchE and Fetal Hgb Includes AFP; hCG; uE3; inhibin A; PAPP-A and NT from part 1; NTD, Down syndrome, and trisomy 18 risk; and interpretation. 19779X Amino Acid Analysis for MSUD, LC/MS, Plasma 5059 Maternal Serum AFP 29881 Amino Acid Analysis, LC/MS, CSF Includes AFP, neural tube defect risk, and interpretation. 767X Amino Acid Analysis, LC/MS, Plasma 91003 Methylmalonic Acid and Homocysteine (Nutritional & Congenital) 36183X Amino Acid Analysis, LC/MS, Urine 91002 Methylmalonic Acid, GC/MS/MS 34694 Arylsulfatase A 90561 Organic Acids, Full Panel, Quantitative, Urine 70132X Biotinidase 90404 Organic Acids, Qualitative, Urine 16537X Biotinidase Activity with Reflex to Mutation Analysis1 15934 Penta Screen Includes AFP; hCG; uE3; inhibin A; h-hCG; NTD, Down syndrome, 70107X Carnitine, LC/MS/MS and trisomy 18 risk; and interpretation. 15948X Carnitine, LC/MS/MS and Acylcarnitine 37356 Phenylalanine 335 Cholinesterase, Plasma 26336 Phenylalanine and Tyrosine 338 Cholinesterase, RBC and Plasma 726 Porphobilinogen, Quantitative, 24-Hour Urine 37965 Cholinesterase, Serum 6329 Porphobilinogen, Quantitative, Random Urine 39481 Cholinesterase, Serum, Plasma, RBC 5519 Porphyrins, Fractionated, Plasma 7961 Cholinesterase, Serum, with Dibucaine Inhibition 17198 Porphyrins, Fractionated, Quantitative and Porphobilinogen, 24-Hour Urine 14591Z Chromosome Analysis and AFP with Reflex to AchE, Fetal Hgb, Amniotic Fluid 729 Porphyrins, Fractionated, Quantitative, 24-Hour Urine 10947X Cystine, 24-Hour Urine 36592 Porphyrins, Fractionated, Quantitative, Random 401X Cystine, Quantitative, Random Urine Urine 219 Delta Aminolevulinic Acid, 24-Hour Urine 10290 Porphyrins, Total, Plasma 6301 Delta Aminolevulinic Acid, Random Urine 30294 Quad Screen Includes AFP; hCG; uE3; inhibin A; NTD, Down syndrome, and 19701X Disaccharidases trisomy 18 risk; and interpretation. 36208X Fetal Hemoglobin, Amniotic Fluid 1 Genetic Test Menu Genetic Test 16131 Sequential Integrated Screen, Part 1 1 Includes PAPP-A; hCG; NT; Down syndrome, and trisomy 18 risk; 16145 First Trimester Screen, hCG and interpretation. Includes PAPP-A, hCG, NT, Down syndrome risk, and Test List Test interpretation. 3 Part 1. Tests Offered by Quest Diagnostics Test Code Test Name Test Code Test Name 16133 Sequential Integrated Screen, Part 21 90927 Chromosomal Microarray, Prenatal, ClariSure® Includes AFP; hCG; uE3; inhibin A; PAPP-A and NT from part 1; Oligo-SNP NTD, Down syndrome, and trisomy 18 risk; and interpretation. 14591Z Chromosome Analysis and AFP with Reflex to 1 16165 Serum Integrated Screen, Part 1 AchE, Fetal Hgb, Amniotic Fluid Includes PAPP-A. 14596 Chromosome Analysis, Blood 16167 Serum Integrated Screen, Part 21 Includes AFP; hCG; uE3; inhibin A; PAPP-A from part 1; NTD, Down 18980 Chromosome Analysis, Blood with Reflex to syndrome, and trisomy 18 risk; and interpretation. Postnatal ClariSure® Oligo-SNP Array3 1 90397 Steroid Panel, 21-Hydroxylase Deficiency/Stress 14592X Chromosome Analysis, Chorionic Villus Sample (Panel components may be ordered separately.) Includes 17-hydroxyprogesterone (17180), androstenedione 10708X Chromosome Analysis, Follow-up (17182), and cortisol (11281). 14595X Chromosome Analysis, High Resolution 90392 Steroid Panel, Comprehensive1 (Panel components may be ordered separately.) 18983 Chromosome Analysis, High Resolution w/rfl to ® Includes androstenedione (17182), corticosterone (6547X), Postnatal ClariSure Oligo-SNP Array cortisol (11281), cortisone (37098X), deoxycorticosterone (90973), 11-deoxycortisol (30543), DHEA (19894), 14597X Chromosome Analysis, Mosaicism 18-hydroxycorticosterone, 17-hydroxypregnenolone (8352), 17-hydroxyprogesterone (17180), pregnenolone (31493X), 16843 Chromosome Analysis, Neonatal Blood progesterone (17183), and total testosterone (15983). 14599Z Chromosome Analysis, Sister Chromatid Exchange 90398 Steroid Panel, Congenital Adrenal Hyperplasia (CAH)1 (Panel components may be ordered 14593X Chromosome Analysis, Tissue separately.) Includes androstenedione (17182), cortisol (11281), 91126 Chromosome Analysis, Tissue w/ Reflex to ® deoxycorticosterone (90973), 11-deoxycortisol (30543), DHEA Microarray, ClariSure Oligo-SNP (19894), 17-hydroxypregnenolone (8352), 17-hydroxyprogesterone (17180), progesterone (17183), and total testosterone (15983). 14590X Chromosomes Analysis, Amniotic Fluid 90426 Steroid Panel, PCOS/CAH Differentiation1 (Panel 14598Z Chromosomes, DEB Assay for Fanconi Anemia components may be ordered separately.) 2 Includes 11-deoxycortisol (30543), 17-hydroxyprogesterone 14608X FISH, Angelman (17180), androstenedione (17182), DHEA (19894), and total and free testosterone (36170). 40047 FISH, Chromosome-Specific Probe (x1), Follow-up Study2 7292 Triple Screen 2 Includes AFP; hCG; uE3; NTD, Down syndrome, and trisomy 18 37343X FISH, Chromosome-Specific Probe risk; and interpretation. Choose one of the following: chromosome-specific (1-22, X and Y) centromere or chromosome-specific (1-22, X and Y) painting. 959 Tryptophan, LC/MS 14614X FISH, Cri du chat2 902 Tyrosine 14610X FISH, DiGeorge, Velocardiofacial (VCFS)2 90559 Very Long Chain Fatty Acids 19045X FISH, Duplication 15q11q132 2 CYTOGENETICS—GENERAL 16672X FISH, Duplication 22q11.2 14615X FISH, Kallmann2 10225X Cell Culture for Possible Additional Prenatal Studies 14612X FISH, Miller-Dieker2 91426 Chromosomal Microarray, Oncology, ClariSure® Oligo-SNP, FFPE 36053 FISH, Neonatal Screen2 Use this test code when a product of conception specimen is Includes chromosomes 13, 18, 21, X, and Y. formalin fixed and paraffin embedded. Please call the lab before submitting specimen. 14605X FISH, Prader Willi2 90929 Chromosomal Microarray, POC, ClariSure® 14604X FISH, Prenatal Screen Oligo-SNP Includes enumeration of chromosomes 13, 18, 21, X, and Y. 16478 Chromosomal Microarray, Postnatal, ClariSure® 14611X FISH, Smith-Magenis2 Oligo-SNP 14606X FISH, SRY/X Centromere2 4 Test Code Test Name Test Code Test Name 14609X FISH, Williams2 19041X FISH, EGFR2 14613X FISH, Wolf-Hirschhorn2 16112X FISH, Ewing/PNET, EWSR1, 22q12 Rearrangements2 14607X FISH, X-Linked Ichthyosis Steroid Sulfatase 90517 FISH, FGFR1, 8p11-122 Deficiency2 17347X FISH, Follicular Lymphoma, IGH/BCL2, t(14;18)2 19859 FISH, HER-2/neu with Reflex to IHC CYTOGENETICS—ONCOLOGY-RELATED 14620X FISH, HER-2/neu, Paraffin Block 10107X Bladder Cancer, FISH 16837 FISH, HES/Leukemia, 4q12 Rearrangement 2 91027 Cervical Cancer, TERC, FISH (FIP1L1-PDGFRA)2 90961 Chromosomal Microarray, Hematologic 91606 FISH, High-Grade Lymphoma Panel2 Malignancy, ClariSure® Oligo-SNP 16593X FISH, Lymphoid Disorder MYB, del 6q232 91426 Chromosomal Microarray, Oncology, ClariSure® Oligo-SNP, FFPE 40056X FISH, MALT Lymphoma, API2/MALT1, t(11;18)2 14601 Chromosome Analysis,
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