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Comprehensive Genetic Test Menu Diagnostic Services Genetics Genetic Test Menu

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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 16131 Sequential Integrated Screen, Part 11

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

Genetic Test Menu List Genetic Test 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, CLL/LPD 40053X FISH, MALT Lymphoma, MALT1, 18q21 Rearrangement2 14600X Chromosome Analysis, Hematologic Malignancy 40057X FISH, MALT Lymphoma, MALT1, rea18q21 with 14602X Chromosome Analysis, Lymph Node Reflex to API2/MALT1, t(11;18)2

14603X Chromosome Analysis, Solid Tumor 17346X FISH, Mantle Cell Lymphoma, IGH/CCND1, t(11;14)2 10969 ER/PR/DNA/HER2 w/Reflex to HER2 FISH, Paraffin 19799X FISH, MDS/Myeloid Panel, -5/5q-, -7/7q-, +8, 20q2 Block 91283 FISH, MET Amplification2 10970 ER/PR/HER2 w/Reflex to HER2 FISH, Paraffin Block 36055X FISH, MLL (11q23) Gene Rearrangement2 19856X FISH, ALL, +4, +10, +172 16077X FISH, Multiple Myeloma, 13q-, 17p-, rea 14q322 40050X FISH, ALL, Extended Panel2 Includes probes for the rearrangements 8q24(MYC), 19619X FISH, Multiple Myeloma, Chromosomes 5,9,152 9p21(p16;CDKN2A), 19p13.3(E2A:TCF3), t(12;21):TEL(ETV6)R, UNX1(AML1)fusion, 11q23(MLL), t(9;22)BCR/ABL1 fusion, 16872 FISH, Multiple Myeloma, IGH/FGFR3, t(4;14)2 14q32(IGH), and numerical abnormalities of chromosomes 4, 10, and 17. 16965 FISH, Multiple Myeloma, IGH/MAF, t(14;16)2

2 40052X FISH, ALL, Pre-B Panel 14621X FISH, MYCN Amplification, Neuroblastoma2 Includes 11q (MLL), 4, 10, 17, t(9;22), and t(12;21). 19722X FISH, Myeloma, 13q, 14q, 17p w/reflex to 5,9,152 90511 FISH, ALL, TCF3/PBX1, t(1;19)(q23.3;p13.3)2 90665 FISH, Myeloproliferative Neoplasms (Eosinophilia)2 14618X FISH, ALL, TEL/AML1 Translocation 12;212 16851 FISH, NHL, BCL6 3q27 Rearrangement2 14706X FISH, ALL/NHL, MYC-BA, 8q24 Rearrangement2 16115X FISH, Oligodendroglioma, 1p/19q2 14617X FISH, AML M3, PML/RARA, Translocation 15;172 90510 FISH, PDGFRB, 5q33.12 10106X FISH, AML, AML1/ETO Translocation 8;212 16076 FISH, Prostate Cancer2 10635X FISH, AML, CBFB/MYH11, Inversion 162 90513 FISH, T-cell Receptor alpha/delta, 14q11.22 16864 FISH, B-Cell Chronic Lymphocytic Leukemia Panel2 Includes selected markers for chromosomes 6, 11, 12, 13, and 17. 90512 FISH, TCL1, 14q32.12

17348X FISH, B-Cell Malignancy, IGH, 14q32 14619X FISH, X/Y, Post Opposite Sex Bone Marrow Rearrangement2 Transplant

17352X FISH, Burkitt's/NHL/ALL, IGH/MYC, t(8;14)2 15547 HER-2, IHC with Reflex to FISH 10055X FISH, Chromosome 20q Deletion2 91028 Lung Cancer (NSCLC), ALK 2p23 Rearrangement, FISH 12070X FISH, CML/ALL, BCR/ABL Translocation 9;222

5 Part 1. Tests Offered by Quest Diagnostics

Test Code Test Name Test Code Test Name 91836 Lung Cancer (NSCLC), ROS1 (6q22) Rearrangement, FISH MOLECULAR GENETICS—ONCOLOGY 2 91216 Lung Cancer Mutation Panel (EGFR, KRAS, ALK) 16930 APC Gene Deletion or Duplication1 Includes epidermal growth factor receptor (EGFR) mutation analysis, KRAS mutation analysis, and ALK 2p23 rearrangement (FISH). 16934 APC Gene Sequencing1 91427 Melanoma, Chromosomal Microarray, ClariSure® 91864 BRCAvantage™, Ashkenazi Jewish Screen Oligo-SNP 92140 BRCAvantage™, Ashkenazi Jewish Screen w/Reflex BRCAvantage™, Comprehensive MOLECULAR GENETICS—ENDOCRINOLOGY 91863 BRCAvantage™, Comprehensive 91680 CAH (21-Hydroxylase Deficiency) Common 91866 BRCAvantage™, Rearrangement Mutations, Fetal Cells 91865 BRCAvantage™, Single Site 14755X CAH (21-Hydroxylase Deficiency) Common Mutations1 91461 Lynch Syndrome Panel1

1 Includes mutation testing of MLH1, MSH2, MSH6, PMS2, and 16072X CAH (21-Hydroxylase Deficiency) Rare Mutations 3′-EPCAM deletion, using a blood specimen.

1 36587X MEN2 and FMTC Mutations, Exons 10, 11, 13-16 91332 Lynch Syndrome Tumor Panel, IHC 16053X Resistance to Thyroid Hormone (RTH) Mutation 91333 Includes MLH1, MSH2, MSH6, PMS2, and microsatellite instability. 1 Analysis 14989X Lynch Syndrome, Microsatellite Instability (MSI)1 91584 Lynch Syndrome, MLH1 Familial Deletion/ MOLECULAR GENETICS— Duplication1 INTELLECTUAL DISABILITY/AUTISM 14984 Lynch Syndrome, MLH1 Familial Point Mutation1 16300 Fragile X DNA Analysis, Fetus1 91460 Lynch Syndrome, MLH1 Sequencing and Deletion/ 16612 HEXA Mutation Analysis, Gene Sequencing1 Duplication1 Includes sequencing of the entire coding region, the intron-exon splice sites, and the promoter region of the HEXA gene. Consider 70196X Lynch Syndrome, MLH1, IHC common mutation testing (Tay-Sachs Disease Mutation Analysis) 16967 prior to, or concurrently with, this test. Hexosaminidase testing should also be considered before or concurrently with this test. 91459 Lynch Syndrome, MSH2 Familial Deletion/ Duplication (Including EPCAM)1 90899 Mucolipidosis Type IV Mutation Analysis1 14981 Lynch Syndrome, MSH2 Familial Point Mutation1 16152X Phenylketonuria (PKU) Mutation Analysis1 Phenylalanine testing should be considered before or concurrently 91471 Lynch Syndrome, MSH2 Sequencing and Deletion/ with this test. Duplication (Including EPCAM)1 11369 Prader-Willi/Angelman Syndrome, DNA 70197X Lynch Syndrome, MSH2, IHC Methylation Analysis1 16971 15088X Rett Syndrome Mutation Analysis1 91230 Lynch Syndrome, MSH6 Familial Deletion/ 16662 Rett Syndrome Rearrangement (Deletion or Duplication1 Duplication)1 14983 Lynch Syndrome, MSH6 Familial Point Mutation1 90903 Tay-Sachs Disease Mutation Analysis1 91458 Lynch Syndrome, MSH6 Sequencing and Deletion/ Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, 1 IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W Duplication pseudodeficiency allele. Consider hexosaminidase testing before or concurrently with this test. 16938 Lynch Syndrome, MSH6, IHC 16252 16326 XSense®, Fragile X with Reflex and Chromosome Analysis, Blood1 91463 Lynch Syndrome, PMS2 Familial Deletion/ Includes a reflex to Southern blot when PCR result is either not Duplication1 normal or gray zone. 91457 Lynch Syndrome, PMS2 Sequencing and Deletion/ 16313 XSense®, Fragile X with Reflex1 Duplication1 Includes a reflex to Southern blot when PCR result is either not normal or gray zone.

6 Test Code Test Name Test Code Test Name 16997 Lynch Syndrome, PMS2, IHC 14974 Beta-Globin Complete1 16254 16346 Beta-Globin Gene Dosage Analysis1 36587X MEN2 and FMTC Mutations, Exons 10, 11, 13-161 90872 Bloom Syndrome DNA Mutation Analysis1 90905 Canavan Disease Mutation Analysis1 MOLECULAR GENETICS— PHARMACOGENOMICS 15053X CFTR Intron 8 Poly-T Analysis1 16924 AccuType® CP, Clopidogrel CYP2C19 Genotype1 92068 CFvantage™ Cystic Fibrosis Expanded Screen1 90251 AccuType® IL28B1 10917X Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequence1 91416 AccuType® Ribavirin1 15335X Cystic Fibrosis D1152H Mutation Analysis1 16160X AccuType® Warfarin1 10226X Cystic Fibrosis DNA Analysis, Fetus 16176X Beta2-Adrenergic Receptor Mutations1 16080X Cystic Fibrosis Gene Deletion or Duplication2 16605 CYP2C19 Genotyping 17726X Cystic Fibrosis Mutation Screen with Reflex to CF 1 11294X Cytochrome P450 2C9 Genotype Complete (Clinics Only)1 1 10490 Cytochrome P450 2D6 Genotype 10913X Cystic Fibrosis Rare Mutation Analysis, One Exon2 17634X Cytochrome P450 2D6/2C19 Genotyping 10915X Cystic Fibrosis Rare Mutation Analysis, Two Exon2 15538X Dihydropyrimidine Dehydrogenase (DPD) Gene 10458 Cystic Fibrosis Screen Mutation Analysis1 90912 Familial Dysautonomia Mutation Analysis1 16859 PDGFRA Mutation Analysis1 16141X Familial Mediterranean Fever Mutation Analysis1 16897 PIK3CA Mutation Analysis1 90897 Fanconi Anemia DNA Mutation Analysis1 16731 Tamoxifen P450 Genotyping 16300 Fragile X DNA Analysis, Fetus1 37742Z TPMT Genotype1 90907 Gaucher Disease, DNA Mutation Analysis1 17813X UGT1A1 Gene Polymorphism (TA Repeat)1 90915 Glycogen Storage Disease Type Ia Mutation 1 16959 VEGF Polymorphism Analysis Analysis (Ashkenazi Jewish)1

16612 HEXA Mutation Analysis, Gene Sequencing1 MOLECULAR GENETICS— Includes sequencing of the entire coding region, the intron-exon PRENATAL/REPRODUCTIVE splice sites, and the promoter region of the HEXA gene. Common mutation testing (Tay-Sachs Disease Mutation Analysis) must be 16061X Achondroplasia Mutation Analysis1 performed prior to, or concurrently with, this test. Hexosaminidase enzyme carrier screening should also be considered before or 91711 Alpha-Globin Common Mutation Analysis, Fetus concurrently with this test. 90909 Maple Syrup Disease (MSUD) Mutation Analysis 11175 Alpha-Globin Common Mutation Analysis1 (Ashkenazi Jewish)1 16124X Alpha-Globin Gene Deletion or Duplication1 92530 MaterniT21™ PLUS 16116X Alpha-Globin Gene Sequencing 90899 Mucolipidosis Type IV Mutation Analysis1 1 90891 Ashkenazi Jewish Panel (11 Tests) 1 Includes mutations associated with Bloom syndrome, Canavan 90893 Niemann-Pick Disease Mutation Analysis

disease, cystic fibrosis, Gaucher disease, glycogen storage disease, 1 familial dysautonomia, Fanconi anemia, MSUD Jewish mutation, 16152X Phenylketonuria (PKU) Mutation Analysis mucolipodosis type IV, Niemann-Pick disease, and Tay-Sachs 1 disease. 90949 Prenatal Carrier Screen (CF, Fragile X, SMA)

90994 Ashkenazi Jewish Panel (4 Tests)1 26382X Sickle Cell Anemia, DNA Probe Analysis, Fetus1

Includes mutations associated with Canavan disease, cystic 1 fibrosis, familial dysautonomia, and Tay-Sachs disease. 18041 SMA Carrier Screen

1 91709 Beta-Globin Complete, Fetus 16869 SMA Diagnostic Test

7 Part 1. Tests Offered by Quest Diagnostics

Test Code Test Name Test Code Test Name 90903 Tay-Sachs Disease Mutation Analysis1 35079 Hereditary Hemochromatosis DNA Mutation Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, Analysis1 IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W pseudodeficiency allele. Consider hexosaminidase enzyme carrier 16612 HEXA Mutation Analysis, Gene Sequencing1 screening before or concurrently with this test. Includes sequencing of the entire coding region, the intron-exon

® splice sites, and the promoter region of the HEXA gene. Consider 16326 XSense , Fragile X with Reflex and Chromosome common mutation testing (Tay-Sachs Disease Mutation Analysis) Analysis, Blood1 prior to, or concurrently with, this test. Hexosaminidase testing Includes a reflex to Southern blot when PCR result is either not should also be considered before or concurrently with this test. normal or gray zone. 10247X Huntington Disease Mutation Analysis1 16313 XSense®, Fragile X with Reflex1 Includes a reflex to Southern blot when PCR result is either not 11244 Long Chain Acyl-CoA Dehydrogenase (LCHAD) normal or gray zone. Mutation Analysis1

16155X Macular Degeneration Mutation Analysis1 MOLECULAR GENETICS—OTHER 90909 Maple Syrup Disease (MSUD) Mutation Analysis 1 16533X 19911A>G Mutation Analysis1 (Ashkenazi Jewish) 15340X Alpha-1 Antitrypsin (AAT) Mutation Analysis1 91284 Medium Chain Acyl-CoA Dehydrogenase (MCAD) Gene Sequencing1 17307X Alpha-1-Antitrypsin (AAT) Quantitation and Mutation Analysis1 11176X Medium Chain Acyl-CoA Dehydrogenase (MCAD) Mutation Analysis1 11175 Alpha-Globin Common Mutation Analysis1 17911 Methylenetetrahydrofolate Reductase (MTHFR), 16124X Alpha-Globin Gene Deletion or Duplication1 DNA Mutation Analysis2

16116X Alpha-Globin Gene Sequencing 90899 Mucolipidosis Type IV Mutation Analysis1 11210X Angiotensin Converting Enzyme (ACE) 90893 Niemann-Pick Disease Mutation Analysis1 Polymorphism (Insertion/Deletion)1 16152X Phenylketonuria (PKU) Mutation Analysis1 11118X Angiotensin II Type 1 Receptor (AGTR1) Gene 1 1166A>C Polymorphism1 11368 Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G

16182X Beta-fibrinogen -455G>A Mutation1 17909 Prothrombin (Factor II) 20210G>A Mutation Analysis2 14974 Beta-Globin Complete1 90903 Tay-Sachs Disease Mutation Analysis1 16346 Beta-Globin Gene Dosage Analysis1 Includes HEXA gene analysis for 1278insTATC, delta7.6kb, G269S, IVS9+1G>A, IVS12+1G>C, and R178H mutations and the R247W 16537X Biotinidase Activity with Reflex to Mutation pseudodeficiency allele. Consider hexosaminidase testing before Analysis1 or concurrently with this test.

2 16526X Biotinidase Deficiency Mutation Analysis1 17907X Thrombophilia DNA Mutation Analysis Includes factor V (Leiden) and prothrombin (factor II) 20210G>A 15053X CFTR Intron 8 Poly-T Analysis1 mutation analyses. 38956X CKR-5 Gene, DNA Mutation Analysis 11126 Thrombophilia Mutation Analysis with Reflex to HR2 Mutation Analysis2 17904 Factor V (Leiden) Mutation Analysis w/Reflex to Includes factor V (Leiden) and prothrombin (factor II) 20210G>A HR2 Mutation Analysis2 mutation analyses with reflex to factor V HR2 mutation analysis.

17900 Factor V (Leiden) Mutation Analysis2 11327 Thrombophilia Screen II, Inherited2 (Panel components may be ordered separately.) 1 10905 Factor V HR2 Allele DNA Mutation Analysis Includes antithrombin III activity (216), factor V (Leiden) mutation Invader® assay/signal amplification. with reflex to factor V HR2 mutation (17904), protein C activity (1777), free protein S (10170), and prothrombin (factor II) 17902X Factor V HR2 Allele DNA Mutation Analysis2 20210G>A mutation (17909). 16023X Factor XI Mutation Analysis (Ashkenazi Jewish)1 17813X UGT1A1 Gene Polymorphism (TA Repeat)1 16613X Galactosemia Mutation Analysis1 19837X von Willebrand Disease Mutation Analysis1 90828 Hemophilia A (Factor VIII) Inversions1 14679Z Y Chromosome Microdeletion, DNA Analysis3

8 Test Code Test Name Test Code Test Name 10262 Maternal Cell Contamination Study, STR Analysis3 OTHER GENETIC TESTS 825 Sickle Cell Screen 513X Fetal Hemoglobin, Whole Blood 37679X Sickle Cell Screen with Reflex to Hemoglobinopathy 511X Hemoglobin A2, Quantitative Evaluation

3 31852X Hemoglobin S, Quantitative 10556X Twin Zygosity 35489 Hemoglobinopathy Evaluation Includes hemoglobin A, A2, F, and any variants (eg, C, E, S), RBC count, hemoglobin, hematocrit, MCV, MCH, and RDW.

1This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the test. 2This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test. 3This test is performed using a kit that has not been approved or cleared by the FDA. The analytical performance characteristics of this test have been determined by Quest Diagnostics Nichols Institute. This test should not be used for diagnosis without confirmation by other medically established means. Reflex tests are performed at an additional charge.

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