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Diagnostic Services

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..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 diagnostic testing, our genetic tests use tests. Quest Diagnostics, together with the most advanced technologies available, its subsidiary Athena Diagnostics, can including high-resolution chromosomal provide all of your genetic testing needs.

We hope this comprehensive test menu is a helpful reference for you.

1 Table of Contents

Part 1. Tests Offered by Quest Diagnostics Biochemical Genetics 3 Cytogenetics—General 4 Cytogenetics—Oncology-related 5 Molecular Genetics— 6 Molecular Genetics—/ 6 Molecular Genetics—Oncology 6 Molecular Genetics—Pharmacogenomics 7 Molecular Genetics—Prenatal/Reproductive 7 Molecular Genetics—Other 8 Other Genetic Tests 9

Part 2. Tests Offered by Athena Diagnostics Endocrinology 10 11 —Cerebrovascular Disorders 12 Neurology— 12 Neurology— 13 Neurology—Intellectual Disability/Autism 13 Neurology— 14 Neurology—Mitochondrial Disorders 14 Neurology—Motor Disorders 15 Neurology—Movement Disorders 15 Neurology—Neuromuscular Disorders 17 Neurology—Peripheral Neuropathy 18 Neurology—Other 19 Other Genetic Tests 19

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, risk, and 4929X 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 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 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 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 , 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 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 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 (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), (37098X), deoxycorticosterone (90973), 11-deoxycortisol (30543), DHEA (19894), 14597X Chromosome Analysis, Mosaicism 18-hydroxycorticosterone, 17-hydroxypregnenolone (8352), 17-hydroxyprogesterone (17180), (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 Analysis, Amniotic Fluid

90426 Steroid Panel, PCOS/CAH Differentiation1 (Panel 14598Z Chromosomes, DEB Assay for Fanconi 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 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 Steroid 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 , FISH 16837 FISH, HES/, 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 toAPI2/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 toHER2 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 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 or Duplication1 Includes 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 , 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, 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- splice sites, and the region of the HEXA gene. Consider 70196X Lynch Syndrome, MLH1, IHC common mutation testing (Tay-Sachs 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 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 . 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 eithernot 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 eithernot 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™ 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- 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 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 90899 Mucolipidosis Type IV Mutation Analysis1 16116X Alpha-Globin Gene Sequencing 90893 Niemann-Pick Disease Mutation Analysis1 1 90891 Ashkenazi Jewish Panel (11 Tests) 1 Includes mutations associated with Bloom syndrome, Canavan 16152X Phenylketonuria (PKU) Mutation Analysis

disease, cystic fibrosis, Gaucher disease, glycogen storage disease, 1 familial dysautonomia, Fanconi anemia, MSUD Jewish mutation, 90949 Prenatal Carrier Screen (CF, Fragile X, SMA) mucolipodosis type IV, Niemann-Pick disease, and Tay-Sachs disease. 92777 QNatal™ Advanced Noninvasive Prenatal Screen

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 eithernot 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 eithernot 11244 Long Chain Acyl-CoA Dehydrogenase (LCHAD) normal or gray zone. Mutation Analysis1 16155X 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 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), C activity (1777), free (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 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.

9 Genetic Test Menu

Part 2. Tests Offered by Athena Diagnostics

Test Code Test Name Test Code Test Name 880 CYP21A2 (CAH) Evaluation ENDOCRINOLOGY Includes sequencing and analysis for the 30kb deletion. 827 ABCC8 (CH) DNA Sequencing 883 Early Onset Obesity (LEPR) DNA Sequencing 876 ABCC8 (NDM) DNA Sequencing 640 Early Onset Obesity (MC4R) DNA Sequencing 815 ABCD1 (Adrenoleukodystrophy) DNA Sequencing 884 Early Onset Obesity Evaluation Includes sequencing of the LEPR and MC4R . 6108 ABCD1 (Neurology) DNA Sequencing 881 Endocrine Hypertension (HSD11B2) Evaluation 462 Anosmic Kallmann/IHH Evaluation Includes sequencing of the HSD11B2 gene. Includes sequencing of the FGF8, FGFR1, GNRHR, KAL1, KISS1R, PROK2, and PROKR2 genes. 829 Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing 893 APOB Mutation Analysis 856 FGF23 (Hypophosphatemic Rickets) DNA 852 AQP2 (Nephrogenic ) DNA Sequencing Sequencing 195 FGF8 DNA Sequencing 812 Autoimmune Polyglandular Syndrome (AIRE) Evaluation 196 FGFR1 DNA Sequencing 887 Bardet-Biedl Syndrome Evaluation 823 GCK (CH) DNA Sequencing Includes sequencing of the BBS1, BBS2, and BBS10 genes. 803 GCK (MODY2) DNA Sequencing and Deletion 871 BBS1 (BBS) DNA Sequencing 842 GCK (NDM) DNA Sequencing 886 BBS10 (BBS) DNA Sequencing 866 GH1 (GHD) DNA Sequencing 872 BBS2 (BBS) DNA Sequencing 867 GHR DNA Sequencing 837 CEL (MODY8) Mutation Analysis 868 GHRHR (GHD) DNA Sequencing 461 CHD7 DNA Sequencing 822 GLUD1 (CH) DNA Sequencing 861 COL1A1 (OI) DNA Sequencing 343 GNRH1 DNA Sequencing 862 COL1A2 (OI) DNA Sequencing 279 GNRHR DNA Sequencing 865 Combined Pituitary Hormone Deficiency Evaluation 848 Deficiency Evaluation Includes sequencing of the POU1F1 and PROP1 genes. Includes sequencing of the GH1, GHRHR, and SHOX genes and 679 Complete Kallmann/IHH Evaluation detection of deletions in the SHOX gene. Includes sequencing of the CHD7, FGF8, FGFR1, GNRHR, GNRH1, 802 HNF4A (MODY1) DNA Sequencing and Deletion KAL1, KISS1R, PROK2, PROKR2, and TACR3 genes. 775 HSD11B2 DNA Sequencing 879 Congenital Adrenal Hyperplasia (CAH) Evaluation Includes sequencing and deletion analysis of CYP21A2 and 878 HSD3B2 DNA Sequencing Test sequencing of CYP11B1. 895 Hypercholesterolemia Evaluation 819 Congenital Hyperinsulinism Evaluation Includes sequencing of the APOB and LDLR genes. Includes sequencing of the ABCC8, GCK, GLUD1, and KCNJ11 genes. 857 Hypophosphatemic Rickets Evaluation 875 CYP11B1 (CAH) DNA Sequencing Test Includes sequencing of the FGF23 and PHEX genes. Includes sequencing and analysis for the 30kb deletion. 853 INS (NDM) DNA Sequencing 774 CYP11B1 DNA Sequencing Test Includes sequencing of the CYP11B1 gene. 834 IPF1 (MODY4) DNA Sequencing Test 877 CYP17A1 DNA Sequencing Test 841 IPF1 (NDM) DNA Sequencing 173 KAL1 DNA Sequencing

10 Test Code Test Name Test Code Test Name 826 KCNJ11 (CH) DNA Sequencing 855 PHEX (Hypophosphatemic Rickets) DNA Sequencing 843 KCNJ11 (NDM) DNA Sequencing 864 POU1F1 (CPHD) DNA Sequencing 364 KISS1R DNA Sequencing 816 Primary Evaluation 664 KRAS DNA Sequencing Includes sequencing of the ABCD1, AIRE, and NR0B1 genes.

658 KRAS/RAF1/SOS1 DNA Sequencing Evaluation 175 PROK2 DNA Sequencing 894 LDLR (Hypercholesterolemia) DNA Sequencing 180 PROKR2 DNA Sequencing 747 Liddle's Syndrome Evaluation 863 PROP1 (CPHD) DNA Sequencing Includes sequencing of the SCNN1B and SCNN1G genes. 748 Type 1 Evaluation 874 Lipoid CAH (StAR) Evaluation Includes sequencing of the SCNN1A, SCNN1B, and SCNN1G genes. Includes sequencing of the StAR gene. 663 RAF1 DNA Sequencing 821 LRP5 (Idiopathic Osteoporosis [IOP]) DNA Sequencing 772 SCNN1A DNA Sequencing 811 LRP5 (OPPG) DNA Sequencing 745 SCNN1B DNA Sequencing 817 Male Precocious Puberty (LHCGR) DNA 746 SCNN1G DNA Sequencing Sequencing 888 SDHB DNA Sequencing 818 MEN1 (MEN1) DNA Sequencing 847 SHOX (GHD) DNA Sequencing and Deletion 813 MEN2 (RET) DNA Sequencing 662 SOS1 DNA Sequencing 885 Monogenic Diabetes (MODY) Evaluation Includes detection of mutations and deletions in the GCK, HNF1A 358 TACR3 DNA Sequencing (TCF1), HNF4A, and HNF1B (TCF2) genes and mutations in the IPF1 gene. 804 TCF1 (MODY3) DNA Sequencing and Deletion

749 Monogenic Hypertension Evaluation 805 TCF2 (MODY5) DNA Sequencing and Deletion Includes sequencing of the CYP11B1, HSD11B2, SCNN1B, and SCNN1G genes. 858 Von Hippel-Lindau Syndrome (VHL) Evaluation Includes sequencing of the VHL gene. 882 Neonatal Diabetes Mellitus Evaluation Includes sequencing of the ABCC8, GCK, INS, IPF1, and KCNJ11 genes. NEPHROLOGY 851 Nephrogenic Diabetes Insipidus (AVPR2) DNA 711 ACTN4 DNA Sequencing Sequencing 765 BSND DNA Sequencing 854 Nephrogenic Diabetes Insipidus Evaluation Includes sequencing of the AQP2 and AVPR2 genes. 825 CASR DNA Sequencing

846 (PTPN11) DNA Sequencing 764 CLCNKB DNA Sequencing 667 Normosmic Kallmann/IHH Evaluation 757 COL4A3 DNA Sequencing Includes sequencing of the FGFR1, GNRHR, GNRH1, KISS1R, PROK2, PROKR2, and TACR3 genes. 758 COL4A4 DNA Sequencing

814 NR0B1 (Adrenal Hypoplasia Congenita) DNA 756 COL4A5 Deletion Analysis Sequencing 755 COL4A5 Sequencing and Deletion Analysis 860 Osteogenesis Imperfecta Evaluation 759 Complete Alport Syndrome Evaluation Includes sequencing of the COL1A1 and COL1A2 genes. Includes sequencing of the COL4A3, COL4A4, and COL4A5 genes 889 Pheochromocytoma Evaluation and detection of deletions in COL4A5. Includes sequencing of the RET, SDHB, and VHL genes.

11 Part 2. Tests Offered by Athena Diagnostics

Test Code Test Name Test Code Test Name 761 Complete PKD Evaluation Includes sequencing of the PKD1 and PKD2 genes and detection of deletions in both genes. NEUROLOGY—CEREBROVASCULAR DISORDERS

779 CYP11B1/2 DNA Chimeric Gene Fusion 685 CCM2 Deletion Analysis 722 Early Onset Evaluation 684 CCM2 DNA Sequencing Includes sequencing of the LAMB2, NPHS1, NPHS2, PLCE1, and WT1 686 CCM2 Evaluation genes. Includes sequencing and deletion analysis of the CCM2 gene. 770 Hereditary Interstitial Disease 424 COL4A1 DNA Sequencing Test (CSVD) Includes sequencing of the UMOD gene. 421 Complete CADASIL Evaluation 767 Hereditary Renal Tubular Disorders Evaluation Includes sequencing of the NOTCH3 gene. Includes sequencing of the BSND, CLCNKB, KCNJ1, SLC12A1, and SLC12A3 genes. 692 Complete Cerebral Cavernous Malformation 776 HNF1B DNA Sequencing and Deletion Evaluation (CCM) Evaluation Includes sequencing and deletion analysis of the CCM2, KRIT1, and 775 HSD11B2 DNA Sequencing PDCD10 genes. 716 INF2 (FSGS) DNA Sequencing 442 HTRA1 DNA Sequencing Test (CARASIL) 717 Inherited Focal and Segmental Glomerulosclerosis 682 KRIT1 (CCM1) Deletion Analysis (FSGS) Evaluation 681 KRIT1 (CCM1) DNA Sequencing Includes sequencing of the ACTN4, INF2, NPHS2, and TRPC6 genes. 683 KRIT1 (CCM1) Evaluation 763 KCNJ1 DNA Sequencing Includes sequencing and deletion analysis of the KRIT1 gene. 714 LAMB2 DNA Sequencing 688 PDCD10 (CCM3) Deletion Analysis 747 Liddle's Syndrome Evaluation 687 PDCD10 (CCM3) DNA Sequencing Includes sequencing of the SCNN1B and SCNN1G genes. 689 PDCD10 (CCM3) Evaluation 750 NPH1 (FJN) Molecular Analysis Includes sequencing and deletion analysis of the PDCD10 gene. Includes detection of homozygous deletions in the NPHP1 gene.

730 NPHS1 (Nephrin) Sequencing Analysis NEUROLOGY—DEMENTIA 710 NPHS2 (Podocin) Sequencing Analysis 178 ADmark® Alzheimer's Evaluation 760 PKD Deletion Analysis Includes APOE genotyping and concentrations of phosphorylated Includes detection of deletions in the PKD1 and PKD2 genes. , total tau protein, and β- 42.

728 PKDx® Familial Mutation Evaluation 109 ADmark® APOE Genotype Analysis and Includes detection of the familial polycystic Interpretation (Symptomatic) mutation only. 168 ADmark® APP DNA Sequencing/Duplication 725 PKDx® Sequencing Analysis Includes sequencing of the PKD1 and PKD2 genes. 179 ADmark® Early Onset Alzheimer's Evaluation Includes sequencing of the APP, PS-1 (PSEN1), and PS-2 (PSEN2) 718 PLCE1 DNA Sequencing genes and detection of duplications in the APP gene.

748 Pseudohypoaldosteronism Type 1 Evaluation 177 ADmark® Phospho-Tau/Total-Tau/Ab42 CSF Includes sequencing of the SCNN1A, SCNN1B, and SCNN1G genes. Analysis and Interpretation (Symptomatic) 772 SCNN1A DNA Sequencing 167 ADmark® PS-1 DNA Sequencing 745 SCNN1B DNA Sequencing 169 ADmark® PS-2 DNA Sequencing 746 SCNN1G DNA Sequencing 209 (FTD) DNA 762 SLC12A1 DNA Sequencing 281 Evaluation Includes sequencing of GRN and MAPT genes and detection of 766 SLC12A3 DNA Sequencing expansions in the C9orf72 gene.

712 TRPC6 DNA Sequencing 204 GRN DNA Sequencing 713 WT1 DNA Sequencing 205 MAPT DNA Sequencing

12 Test Code Test Name Test Code Test Name 5001 Epilepsy Advanced Sequencing Evaluation— NEUROLOGY—EPILEPSY Generalized, Absence, Focal, and Myoclonic 549 Alexander Disease (GFAP) DNA Sequencing Includes sequencing of 36 genes: ALDH7A1, CACNA1A, CASR, CHRNA2, CHRNA4, CHRNB2, CSTB, DEPDC5, EFHC1, EPM2A, 141 ARX DNA Sequencing GABRA1, GABRB3, GABRD, GABRG2, GRIN2A, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MBD5, ME2, NHLRC1, PCDH19, 065 ARX Duplication/Deletion (Epilepsy) PRICKLE1, PRICKLE2, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN9A, SLC2A1, SLC4A10, and TBC1D24. 797 ARX Evaluation (Epilepsy) Includes sequencing and duplication/deletion analysis of the ARX 5008 Epilepsy Advanced Sequencing Evaluation— gene. Infantile Spasms Includes sequencing of 10 genes: ARX, CDKL5, FOXG1, GABRB3, 067 CDKL5 Duplication/Deletion (Epilepsy) GRIN2A, MEF2C, SCN2A, SLC25A22, SPTAN1, and STXBP1. 799 CDKL5 Evaluation (Epilepsy) 5005 Epilepsy Advanced Sequencing Evaluation— Includes sequencing and analysis for duplications and deletions in Neuronal Ceroid Lipofuscinosis the CDKL5 gene. Includes sequencing of 10 genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, KCTD7, MFSD8, PPT1, and TPP1. 573 Complete SCN1A Evaluation Includes sequencing and deletion analysis of the SCN1A gene. 5003 Epilepsy Advanced Sequencing Evaluation— Neuronal Migration Disorders 556 Complete Evaluation Includes sequencing of 29 genes: ARFGEF2, ARX, COL18A1, Includes sequencing and deletion analysis of the TSC1 and TSC2 COL4A1, CPT2, DCX, EMX2, FGFR3, FKRP, FKTN, FLNA, GPR56, genes. LAMA2, LARGE, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB3GAP1, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, 674 CSTB (EPM1) Evaluation TUBB2B, and WDR62. Includes sequencing and detection of expansions in the CSTB (EPM1) gene. 5007 Epilepsy Advanced Sequencing Evaluation— Syndromic Disorders 5006 Epilepsy Advanced Sequencing Evaluation— Includes sequencing of 26 genes: ATP2A2, ATP6V0A2, CCDC88C, Epilepsy with CLCNKA, CLCNKB, VPS13B, KCNA1, KCNJ1, KCNJ10, KIAA1279, LBR, Includes sequencing of 7 genes: ATP1A2, CACNA1A, NOTCH3, LGI1, MLL2, NIPBL, PANK2, SERPINI1, PIGV, PLA2G6, RAI1, SETBP1, POLG, PRRT2, SCN1A, and SLC2A1. SMC3, SYNGAP1, TBX1, TSC1, TSC2, and VPS13A.

5000 Epilepsy Advanced Sequencing Evaluation 410 EPM1 DNA Includes sequencing of 141 genes: ALDH7A1, ARFGEF2, ARHGEF9, Includes detection of dodecamer expansions in the CSTB gene. ARX, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATRX, CACNA1A, CASK, CASR, CCDC88C, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLCNKA, 518 MERRF mtDNA Evaluation CLCNKB, CLN3, CLN5, CLN6, CLN8, CNTNAP2, VPS13B, COL18A1, Includes detection of a point mutation in each of the MT-TH, MT- COL4A1, CPT2, CSTB, CTSD, CUL4B, OFD1, DCX, DEPDC5, DNAJC5, TK, MT-TL1, MT-TS1 genes in mitochondrial DNA. EFHC1, EMX2, EPM2A, FGD1, FGFR3, FKRP, FKTN, FLNA, FOXG1, GABRA1, GABRB3, GABRD, GABRG2, GPC3, GPR56, GRIA3, GRIN2A, 443 POLG DNA Sequencing (Alpers' Syndrome) HSD17B10, KDM5C, KCNA1, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA1279, LAMA2, LARGE, LBR, LGI1, MBD5, ME2, 537 SCN1A Deletion MECP2, MEF2C, MFSD8, MLL2, NHLRC1, NIPBL, NOTCH3, NRXN1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PCDH19, PEX7, PHF6, SERPINI1, PIGV, PLA2G6, PLP1, PNKP, POLG, POMGNT1, POMT1, 523 TSC Familial Mutation Evaluation POMT2, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRRT2, RAB39B, RAB3GAP1, Includes detection of the familial tuberous sclerosis mutation only. RAI1, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SETBP1, SLC25A22, SLC2A1, 508 TSC1 Deletion Analysis SLC4A10, SLC9A6, SMC1A, SMC3, SMS, SNAP29, SPTAN1, SRPX2, STXBP1, SYNGAP1, SYP, TBC1D24, TBX1, TCF4, TPP1, TREX1, TSC1, 521 TSC1 DNA Sequencing TSC2, TUBA1A, TUBA8, TUBB2B, UBE3A, VPS13A, WDR62, and ZEB2. 524 TSC2 DNA Deletion 5004 Epilepsy Advanced Sequencing Evaluation— Epilepsy in X-Linked Intellectual Disability 522 TSC2 DNA Sequencing Includes sequencing of 27 genes: ARHGEF9, ARX, ATP6AP2, ATRX, CASK, CDKL5, CUL4B, DCX, FGD1, GPC3, GRIA3, HSD17B10, KDM5C, MECP2, OFD1, OPHN1, PAK3, PCDH19, PHF6, PLP1, PQBP1, RAB39B, NEUROLOGY—INTELLECTUAL DISABILITY/ SLC9A6, SMC1A, SMS, SRPX2, and SYP. AUTISM 5002 Epilepsy Advanced Sequencing Evaluation— 790 AHI1 DNA Sequencing () Epileptic Encephalopathies Includes sequencing of 31 genes: ARHGEF9, ARX, CDKL5, 141 ARX DNA Sequencing CNTNAP2, FOXG1, GABRG2, GRIN2A, KCNT1, MECP2, NRXN1, PCDH19, PNKP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, 041 ARX Duplication/Deletion (Intellectual Disability) SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, and ZEB2.

13 Part 2. Tests Offered by Athena Diagnostics

Test Code Test Name Test Code Test Name 773 ARX Evaluation (Intellectual Disability) Includes sequencing and duplication/deletion analysis of the ARX gene. NEUROLOGY—LEUKODYSTROPHY

784 ASPM DNA Sequencing 815 ABCD1 (Adrenoleukodystrophy) DNA Sequencing 794 CC2D2A DNA Sequencing (Joubert Syndrome) 6108 ABCD1 (Neurology) DNA Sequencing 149 CDKL5 DNA Sequencing 6107 ARSA DNA Sequencing 049 CDKL5 Duplication/Deletion (Intellectual 6101 EIF2B1 DNA Sequencing Disability) 6102 EIF2B2 DNA Sequencing 785 CDKL5 Evaluation 6103 EIF2B3 DNA Sequencing Includes sequencing and duplication/deletion analysis of the CDKL5 gene. 6104 EIF2B4 DNA Sequencing 791 CEP290 DNA Sequencing Test (Joubert Syndrome) 6105 EIF2B5 DNA Sequencing 729 (COH1) DNA Sequencing 6109 GJC2 DNA Sequencing 153 Complete Rett Syndrome Evaluation 6106 Leukoencephalopathy with Vanishing Includes sequencing and duplication/deletion analysis of the Includes sequencing of the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and MECP2 gene. EIF2B5 genes.

074 FOXG1 Deletion 6112 PLP1 DNA Sequencing 740 FOXG1 DNA Sequencing 6111 PLP1 Duplication 7410 FOXG1 Evaluation 6110 PLP1 Evaluation Includes sequencing and deletion analysis of the FOXG1 gene. Includes sequencing and duplication analysis of the PLP1 gene. 795 Joubert Syndrome Evaluation Includes sequencing of the AHI1, CC2D2A, CEP290, TMEM67, and TMEM216 genes and deletion analysis of the NPHP1 gene. NEUROLOGY—MITOCHONDRIAL DISORDERS

786 MCPH1 DNA Sequencing 466 ANT1 (SLC25A4) DNA Sequencing (related to mtDNA depletion) 077 MEF2C Deletion 575 Common Mitochondrial Disorders Evaluation 754 MEF2C DNA Sequencing Includes restriction fragment polymorphism analysis of the MT-ATP6, MT-ND1, MT-ND5, MT-TH, MT-TK, MT-TL1, MT-TS1, and 7540 MEF2C Evaluation MT-TV genes and sequencing of the POLG gene. Includes sequencing and deletion analysis of the MEF2C gene. 487 DGUOK DNA Sequencing (related to mtDNA 793 NPHP1 Deletion (Joubert Syndrome) depletion) 788 Primary Evaluation 517 MELAS mtDNA Evaluation Includes sequencing of the ASPM, MCPH1, and WDR62 genes. Includes restriction fragment polymorphism analysis of the MT- ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes. 744 PTEN DNA Sequencing 579 Mitochondrial Encephalomyopathic Evaluation 142 Rett Syndrome (MECP2) DNA Sequencing Includes sequencing of the POLG, RRM2B, and TK2 genes.

148 Rett Syndrome (MECP2) Duplication/Deletion 578 Mitochondrial Hepatoencephalopathic Evaluation Analysis Includes sequencing of the DGUOK, MPV17, POLG, TWINKLE (PEO1/C10orf2) genes. 724 SHANK2 DNA Sequencing 577 Mitochondrial Neurogastrointestinal 742 SHANK3 DNA Sequencing Encephalopathy Evaluation (MNGIE) Includes sequencing of the RRM2B and TYMP genes and 737 Smith-Lemli-Opitz Syndrome (DHCR7) DNA restriction fragment polymorphism analysis of the MT-ND1, MT- Sequencing ND5, MT-TH, MT-TL1, and MT-TV genes.

771 SYNGAP1 DNA Sequencing 488 MPV17 DNA Sequencing (related to mtDNA depletion) 789 TMEM216 DNA Sequencing (Joubert Syndrome) 469 OPA1 DNA Sequencing (related to mtDNA 792 TMEM67 DNA Sequencing (Joubert Syndrome) depletion) 787 WDR62 DNA Sequencing 824 PDHA1 DNA Sequencing 14 Test Code Test Name Test Code Test Name 474 POLG DNA Sequencing (related to all allelic 533 KIAA0196 (SPG8) DNA Sequencing disorders) 613 KIF5A (SPG10) DNA Sequencing 576 Progressive External Ophthalmoplegia Evaluation Includes sequencing of the ANT1 (SCL25A4), OPA1, POLG, 532 NIPA1 (SPG6) DNA Sequencing TWINKLE (PEO1/C10orf2) genes and restriction fragment polymorphism analysis of the MT-ND1, MT-ND5, MT-TH, MT-TL1, 609 OPTN DNA Sequencing and MT-TV genes. 632 Paraplegin (SPG7) DNA Sequencing 486 RRM2B DNA Sequencing (related to mtDNA depletion) 665 REEP1 (SPG31) Deletion Analysis 489 TK2 DNA Sequencing (related to mtDNA 529 REEP1 (SPG31) DNA Sequencing depletion) 214 SMA Plus (Reflexive) Includes deletion analysis of the SMN1 gene. If an SMN1 deletion is 479 TWINKLE (PEO1/C10orf2) DNA Sequencing (related detected on only 1 allele, sequencing of the SMN1 and SMN2 genes to mtDNA depletion) will be performed at an additional charge.

484 TYMP DNA Sequencing Test (related to mtDNA 211 SMN DNA Sequencing depletion) Includes sequencing of the SMN1 and SMN2 genes.

534 Spastin (SPG4) Deletion NEUROLOGY—MOTOR NEURON DISORDERS 530 Spastin (SPG4) DNA Sequencing 622 ANG DNA Sequencing 614 Spastizin (ZFYVE26) DNA Sequencing (SPG15) 531 Atlastin (SPG3A) DNA Sequencing 633 Spatacsin (SPG11) DNA Sequencing 653 Autosomal Dominant Hereditary Spastic Paraplegia 444 Spinal Muscular Carrier Test Evaluation Includes deletion analysis of the SMN1 and SMN2 genes. Includes detection of mutations in the SPG3A, SPG4, NIPA1 (SPG6), KIAA0196 (SPG8), KIF5A (SPG10), REEP1 (SPG31), and BSCL2 111D Diagnostic Test (SPG17) genes. Includes deletion analysis of the SMN1 and SMN2 genes. 654 Autosomal Recessive Hereditary Spastic Paraplegia 212 Spinal Muscular Atrophy with Respiratory Distress Evaluation (SMARD)—IGHMBP2 DNA Sequencing Includes sequencing of the CYP7B1 (SPG5A), SPG7, SPG11, and SPG15 genes. 621 TARDBP DNA Sequencing 631 BSCL2 DNA Sequencing 611 UBQLN2 DNA Sequencing 670 C9orf72 DNA 610 VCP DNA Sequencing Includes analysis for repeat expansions in the C9orf72 gene. 213 X-Linked Spinal Muscular Atrophy (XLSMA)—UBE1 643 Complete ALS Evaluation DNA Sequencing Includes sequencing of the ANG, FIG4, FUS, OPTN, SOD1, TARDBP, UBQLN2, and VCP genes and analysis for repeat expansions in the C9orf72 gene. NEUROLOGY—MOVEMENT DISORDERS 655 Complete Hereditary Spastic Paraplegia Evaluation Includes sequencing of the SPG3A, SPG4, CYP7B1 (SPG5A), NIPA1 557 Alpha Synuclein (SNCA) DNA Sequencing (SPG6), SPG7, KIAA0196 (SPG8), KIF5A (SPG10), SPG11, SPG15, BSCL2 (SPG17), and SPG31 genes and analysis for deletions in the 059 Alpha Synuclein (SNCA) Duplication/Deletion SPG4 and REEP1 (SPG31) genes. 493 Aprataxin DNA Sequencing 215 Complete SMA Evaluation (Reflexive) Includes deletion analysis of the SMN1 and SMN2 genes. If the 352 -Telangiectasia (ATM) DNA Deletion results are not diagnostic of SMA, sequencing of the SMN1 and Analysis SMN2 genes will be done at an additional charge. If still not diagnostic, IGHMB2 and UBE1 sequencing will be done at an 351 Ataxia-Telangiectasia (ATM) DNA Sequencing additional charge. Analysis 612 CYP7B1 (SPG5A) DNA Sequencing 697 Autosomal Dominant Ataxia Evaluation 620 Familial Amyotrophic Lateral Sclerosis (SOD1) DNA Includes detection of triplet or other repeats in the DRPLA, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, and SCA17 genes. 619 FUS DNA Sequencing Also includes sequencing of the SCA5, SCA14, and SCA28 genes and sequencing of exon 2 and a 20 bp intron in the SCA13 gene. 117 Kennedy's Disease (SBMA) DNA Includes detection of CAG triplet repeats in the AR gene.

15 Part 2. Tests Offered by Athena Diagnostics

Test Code Test Name Test Code Test Name 693 Autosomal Recessive Ataxia Evaluation 554 PARK7 (DJ1) DNA Sequencing Includes sequencing in the APTX, FXN, SETX, SIL1, and TTPA genes. Also includes sequencing of the 3 PLOG1 gene exons that are 058 PINK1 Deletion associated with mitochondrial recessive ataxia syndrome. 542 PINK1 DNA Sequencing 402 Chorea Differential Evaluation Includes detection of CAG triplet repeats in the HTT (IT15) and 639 Primary Dystonia Evaluation DRPLA genes. Includes deletion analysis of the TOR1A (DYT1) gene and sequencing of the THAP1 gene. 696 Complete Ataxia Evaluation Includes detection of triplet or other repeats in the DRPLA, FXN, 666 PRRT2 (Dyskinesia/IC) DNA Sequencing SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, and SCA17 genes. Also includes sequencing of the APTX, FXN, SCA5, SCA14, 371 SCA1 DNA SCA28, SETX, SIL1, and TTPA genes; sequencing of exon 2 and a Includes detection of CAG triplet repeats in the SCA1 gene. 20 bp intron in the SCA13 gene; and sequencing of the 3 PLOG1 gene exons that are associated with mitochondrial recessive ataxia 387 SCA10 DNA syndrome. Includes detection of ATTCT pentanucleotide repeats in the SCA10 gene. 353 Complete Ataxia-Telangiectasia (ATM) Evaluation Includes sequencing and deletion analysis of the ATM gene. 285 SCA12 (PPP2R2B) DNA Includes detection of CAG triplet repeats in the SCA12 (PPP2R2B) 629 Complete Dopa-Responsive Dystonia (DYT5) gene. Evaluation Includes sequencing of the GCH1 and TH genes and deletion 284 SCA13 Select Exon DNA analysis of the GCH1 gene. Includes sequencing of exon 2 and a 20 bp intron in the KCNC3 (SCA13) gene. 588 Complete Parkinsonism Evaluation Includes sequencing and duplication/deletion analysis of the 593 SCA14 DNA PARK2, PARK7 (DJ1), PINK1, and SNCA genes and sequencing of the Includes sequencing of the PRKCG (SCA14) gene. LRRK2 gene. 388 SCA17 DNA 401 DRPLA DNA Test Includes detection of CAG/CAA triplet repeats in the TBP (SCA17) Includes detection of CAG triplet repeats in the DRPLA gene. gene.

626 Dystonia (DYT1) DNA 672 SCA2 Expansion Analysis Includes deletion analysis of the TOR1A (DYT1) gene. Includes detection of CAG triple repeats in the ATXN2 (SCA2) gene. 119 Friedreich Ataxia DNA Includes detection of GAA triplet repeats in the FXN gene. 673 SCA28 (AFG3L2) DNA Sequencing

348 Friedreich's Ataxia DNA Sequencing 105 SCA3 (Machado-Joseph Disease) DNA Includes sequencing of the FXN gene. Includes detection of CAG triplet repeats in the ATXN3 (SCA3) gene. 349 Friedreich's Ataxia Profile Includes detection of GAA triplet repeats and sequencing of the 675 SCA5 DNA Sequencing FXN gene. Includes sequencing of the SPTBN2 (SCA5) gene.

638 GCH1 Deletion Analysis (DYT5) 373 SCA6 DNA Includes detection of CAG triplet repeats in the CACNA1A (SCA6) 637 GCH1 DNA Sequencing gene.

116 Huntington's Disease DNA 677 SCA7 Expansion Analysis Includes detection of CAG triplet repeats in the HTT (IT15) gene. Includes detection of CAG triplet repeats in the ATXN7 (SCA7) gene. 558 LRRK2 DNA Sequencing 384 SCA8 DNA 543 LRRK2 DNA Includes detection of CTA/CTG triplet repeats in the ATXN8OS Includes sequencing of 3 codons in the LRRK2 gene: 1441 on exon (SCA8) gene. 31 and 2019 and 2020 on exon 41. 594 SETX DNA Sequencing 383 MIRAS-SpecificPOLG1 DNA Includes sequencing of the 3 PLOG1 gene exons that are associated 627 SGCE Deletion Analysis (DYT11) with mitochondrial recessive ataxia syndrome. 624 SGCE Sequencing (DYT11) 617 MR-1 (PNKD) DNA Sequencing 282 SIL1 (Marinesco-Sjogren Syndrome) DNA 559 PARK2 (Parkin) DNA Sequencing Sequencing 040 PARK2 (Parkin) Duplication/Deletion 634 TH DNA Sequencing (DYT5) 047 PARK7 (DJ1) Deletion 618 THAP1 (DYT6) DNA Sequencing

16 Test Code Test Name Test Code Test Name 283 TTPA (Ataxia with Vitamin E Deficiency) DNA 571 DNA Sequencing Sequencing Includes sequencing of the DYSF gene. 100 Includes Western blot analysis to determine quality and quantity NEUROLOGY—NEUROMUSCULAR DISORDERS of dystrophin protein in .

589 ANO5 DNA Sequencing 207 Early Onset Evaluation 623 BAG3 DNA Sequencing Includes sequencing of the CLCN1 and SCN4A genes and detection of CTG triplet repeats in the DMPK gene. 641 CACNA1S DNA Sequencing 567 EMD Sequencing 563 3 DNA Sequencing 669 Emery-Dreifuss Muscular Evaluation Includes sequencing of the CAPN3 gene. Includes sequencing of the EMD, FHL1, and LMNA genes. 584 CAPN3 Deletion Analysis 232 FCMD/FKTN DNA Sequencing 585 CAPN3 Evaluation 574 FHL1 DNA Sequencing Includes sequencing and deletion analysis of the CAPN3 gene. 216 FKRP (CMD) DNA Sequencing 566 3 DNA Sequencing Includes sequencing of the CAV3 gene. 562 FKRP DNA Sequencing 128 CLCN1 DNA Sequencing 606 FLNC DNA Sequencing 201 COL6A1 DNA Sequencing 5905 FSHD Molecular Combing Includes detection of 4q35 deletions and haplotype associated 202 COL6A2 DNA Sequencing with facioscalpulohumeral .

203 COL6A3 DNA Sequencing Test 405 FSHD Southern Blot Includes 4q35 deletions associated with facioscalpulohumeral 293 Collagen VI-Related CMD Evaluation muscular dystrophy. Includes sequencing of the COL6A1, COL6A2, and COL6A3 genes. 649 Hypokalemic (HOKPP) Evaluation 295 Complete Congenital Muscular Dystrophy (CMD) Includes sequencing of the CACNA1S and SCN4A genes. Evaluation Includes sequencing of the COL6A3, FKTN (FCMD), FKRP, LAMA2, 217 LAMA2 (CMD) DNA Sequencing POMGNT1, POMT1, and POMT2 genes. 565 A/C DNA Sequencing 182 Complete DMD Evaluation—Females Includes sequencing of the LMNA gene. Includes sequencing and duplication/deletion analysis of the DMD gene. Report provided is specific for females. 607 LDB3 (ZASP) DNA Sequencing 181 Complete DMD Evaluation—Males 515 LHON mtDNA Evaluation Includes sequencing and duplication/deletion analysis of the DMD Includes detection of point mutations in the ND1 (3460G>A), ND4 gene. Report provided is specific for males. (11778G>A), and ND6 (14484T>C) genes.

147 Complete Myotonia Evaluation 603 Limb Girdle Muscular Dystrophy Evaluation Includes sequencing of the CLCN1 and SCN4A genes and detection Includes sequencing of the CAPN3, CAV3, DYSF, FKRP, LMNA, of CTG triplet repeats in the DMPK gene and CCTG repeats in the MYOT, SGCA, SGCB, SGCD and SGCG genes. Also includes deletion CNBP gene. analysis in the CAPN3, SGCA, and SGCG genes.

126 Complete Evaluation 506 Male Muscular Dystrophy Reflexive Profile Includes detection of CTG triplet repeats in the DMPK (DM1) and Includes duplication/deletion analysis of the DMD gene. If CCTG repeats in the CNBP (DM2, ZNF9) genes. negative, sequencing of the DMD gene is done at an additional charge. If still negative, sequencing of CAPN3, CAV3, DYSF, FKRP, 587 Complete Evaluation LMNA, MYOT, SGCA, SGCB, SGCD, and SGCG genes is performed at Includes sequencing of the SGCA, SGCB, SGCD, and SGCG genes an additional charge. and deletion analysis of the SGCA and SGCG genes. 517 MELAS mtDNA Evaluation 602 CRYAB DNA Sequencing Includes restriction fragment polymorphism analysis of the MT- ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV genes. 604 DES DNA Sequencing 518 MERRF mtDNA Evaluation 108 DM1 DNA Includes detection of a point mutation in each of the MT-TH, MT- Includes detection of CTG triplet repeats in the DMPK (DM1) gene. TK, MT-TL1, MT-TS1 genes in mitochondrial DNA.

110 DM2 DNA 636 Myofibrillar (MFM) Evaluation Includes detection of CCTG repeats in the CNBP (DM2, ZNF9) Includes sequencing of the BAG3, CRYAB, DES, FLNC, LDB3 (ZASP), genes. and MYOT genes.

17 Part 2. Tests Offered by Athena Diagnostics

Test Code Test Name Test Code Test Name 616 MYOT (MFM) DNA Sequencing 4008 CMT Advanced Evaluation—Axonal Includes sequencing of the DNM2, GARS, GDAP1, GJB1 (CX32), 581 MYOT DNA Sequencing HSPB1, HSPB8, LMNA, MFN2, MPZ, NFL, RAB7, TRPV4, and YARS genes and deletion analysis of the GJB1 (CX32) and GJB1 gene. 516 NARP mtDNA Evaluation Includes detection of point mutations in the MT-ATP6 gene in 4001 CMT Advanced Evaluation—Comprehensive mitochondrial DNA. Includes sequencing of the DNM2, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1 (CX32), HSPB1, HSPB8, LITAF, LMNA, MFN2, MTMR2, 269 Non-Syndromic Congenital Muscular Dystrophy MPZ, NDRG1, NFL, PMP22, PRX, RAB7, SBF2, SH3TC2, TRPV4, and (CMD) Evaluation YARS genes; deletion analysis of the GJB1 (CX32); and duplicaton/ deletion analysis of the PMP22 gene. Includes sequencing of COL6A1, COL6A2, COL6A3, FKRP, and LAMA2 genes. 4007 CMT Advanced Evaluation—Demyelinating 300 OPMD DNA Includes sequencing of the DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1 (CX32), LITAF, MTMR2, MPZ, NDRG1, PMP22, PRX, SBF2, Includes detection of GCG triplet repeats in the PABP2 gene. SH3TC2, and YARS genes; deletion analysis of the GJB1 (CX32); and duplicaton/deletion analysis of the PMP22 gene. 490 Optic Atrophy Evaluation (OPA1) Includes sequencing of the OPA1 gene. 4005 CMT Advanced Evaluation—Dominant Includes sequencing of the DNM2, EGR2, GARS, HSPB1, HSPB8, 103 Partial DMD—Del/Dup Only—Females LITAF, MFN2, MPZ, NFL, PMP22, RAB7, TRPV4, and YARS genes, and Includes duplication/deletion analysis of the DMD gene. Report duplicaton/deletion analysis of the PMP22 gene. provided is specific for females. 4003 CMT Advanced Evaluation—Dominant, Axonal 101 Partial DMD—Del/Dup Only—Males Includes sequencing of the DNM2, GARS, HSPB1, HSPB8, LMNA, Includes duplication/deletion analysis of the DMD gene. Report MFN2, MPZ, NFL, RAB7, TRPV4, and YARS genes. provided is specific for males. 4002 CMT Advanced Evaluation—Dominant, 183 Partial DMD—Sequencing Only Demyelinating Includes sequencing of the DMD gene. Includes sequencing of the DNM2, EGR2, LITAF, MPZ, PMP22, and YARS genes and duplicaton/deletion analysis of the PMP22 gene. 220 POMGNT1 (CMD) DNA Sequencing 4006 CMT Advanced Evaluation—Recessive 218 POMT1 (CMD) DNA Sequencing Includes sequencing of the FGD4, FIG4, GDAP1, LMNA, MTMR2, NDRG1, PRX, SBF2, and SH3TC2 genes. 219 POMT2 (CMD) DNA Sequencing 4004 CMT Advanced Evaluation—Recessive, 642 SCN4A (HOKPP) DNA Sequencing Demyelinating 146 SCN4A DNA Sequencing Includes sequencing of the FGD4, FIG4, GDAP1, MTMR2, NDRG1, PRX, SBF2, and SH3TC2 genes. 582 SGCA Deletion 286 Complete Dejerine-Sottas Neuropathy Evaluation 564 SGCA DNA Sequencing Includes EGR2, MPZ, PMP22, and PRX gene sequencing. 568 SGCA, B, D, G DNA Sequencing 243 Complete HNPP Evaluation Includes sequencing and duplication/deletion analysis of the 051 SGCB DNA Sequencing PMP22 gene. 052 SGCD DNA Sequencing 245 Congenital Hypomyelination Evaluation Includes sequencing of the EGR2 and MPZ genes. 583 SGCG Deletion 143 Connexin32 Evaluation 053 SGCG DNA Sequencing Includes sequencing and duplication/deletion analysis of the GJB1 gene. 237 Syndromic Congenital Muscular Dystrophy (CMD) Evaluation 253 DNM2 DNA Sequencing Includes sequencing of the FKTN (FCMD), POMGNT1, POMT1, POMT2 genes. 691 Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation Includes sequencing of the NTRK1 and WNK1 genes. NEUROLOGY—PERIPHERAL NEUROPATHY 248 EGR2 DNA Sequencing 235 Amyloidosis Evaluation (TTR) Includes sequencing of the TTR gene. 296 Entrapment Neuropathy Evaluation Includes sequencing of the PMP22 and TTR genes and duplication/ 660 ATL1 (HSAN) DNA Sequencing Test deletion analysis of the PMP22 gene. Includes sequencing of the ALT1 gene, targeting mutations associated with hereditary sensory and autonomic neuropathy 208 FGD4 DNA Sequencing type 1D. 225 FIG4 DNA Sequencing

18 Test Code Test Name Test Code Test Name 228 GARS (CMT2D) DNA Sequencing 221 GDAP1 DNA Sequencing NEUROLOGY—OTHER 229 HSPB1 (CMT2F) DNA Sequencing 319 30 DNA Includes deletion analysis of the GJB6 gene. 463 HSPB8 DNA Sequencing 329 Connexin Related Deafness Evaluation 698 Late Onset Hereditary Sensory and Autonomic Includes sequencing of the GJB2 gene and deletion analysis of the Neuropathy (HSAN) Evaluation GJB6 gene. Includes sequencing of the SPTLC1 and SPTLC2 genes. 321 Cx26 DNA Sequencing 222 LITAF/SIMPLE DNA Sequencing Includes sequencing of the GJB2 gene. 226 LMNA (CMT2B1) DNA Sequencing 185 Familial DNA Sequence Evaluation Includes analysis for a familial mutation only. 518 MERRF mtDNA Evaluation Includes detection of a point mutation in each of the MT-TH, 187 Familial Hemiplegic Migraine Type I (CACNA1A) MT-TK, MT-TL1, MT-TS1 genes in mitochondrial DNA. DNA Includes sequencing of the CACNA1A gene. 223 MFN2 DNA Sequencing 188 Familial Hemiplegic Migraine Type II (ATP1A2) DNA 354 MTMR2 DNA Sequencing Includes sequencing of the ATP1A2 gene.

134 Protein Zero (MPZ) DNA Sequencing 189 Familial Hemiplegic Migraine Type III (SCN1A) DNA (Target Exon Analysis) 394 NDRG1 DNA Sequencing Includes sequencing of the SCN1A gene. 249 Light(NFL) DNA Sequencing 190 Hemiplegic Migraine Evaluation 659 NTRK1 DNA Sequencing Includes sequencing of the ATP1A2, CACNA1A, and SCN1A genes. 239 Periaxin DNA Sequencing Test 518 MERRF mtDNA Evaluation Includes sequencing of the PRX gene. Includes detection of a point mutation in each of the MT-TH, MT- TK, MT-TL1, MT-TS1 genes in mitochondrial DNA. 247 PMP22 DNA Sequencing 648 Neurofibromatosis Type 1(NF1) Evaluation 131 PMP22 Duplication/Deletion DNA Includes sequencing and deletion analysis of the NF1 gene. 227 RAB7 (CMT2B) DNA Sequencing 647 Neurofibromatosis Type 1 Deletion Includes deletion analysis of the NF1 gene. 164 SBF2 DNA Sequencing 646 Neurofibromatosis Type 1 DNA Sequencing 719 SEPT9 DNA Sequencing Includes sequencing of the NF1 gene.

224 SH3TC2 DNA Sequencing 644 Neurofibromatosis Type 2(NF2) Duplication/ Deletion 551 SPTLC1 DNA Sequencing 645 Neurofibromatosis Type 2(NF2) Evaluation 552 SPTLC2 DNA Sequencing Includes sequencing and duplication/deletion analysis of the NF2 gene. 144 TRPV4 DNA Sequencing 635 Neurofibromatosis Type 2 DNA Sequencing 553 WNK1 DNA Sequencing Includes sequencing of the NF2 gene. 468 YARS DNA Sequencing OTHER GENETIC TESTS 166 APOE Genotype Analysis Includes analysis of the APOE genotype (e2, e3, and e4 ) for non-Alzheimer disease indications.

All tests were developed and their performance characteristics have been determined by Athena Diagnostics. Performance characteristics refer to the analytical performance of the test. 19 NOTES:

20 21 Diagnostic Services Genetics

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