Genetic Tests and Disease States Included in Humana s Genetic Guidance Program

Transcription

1 Dystrophin (DMD) (e.g., Duchenne/Becker muscular dystrophy) deletion analysis and duplication analysis, if performed Aspartoacylase (ASPA) (e.g., Canavan disease) gene analysis, common variants (e.g., E285A, Y231X) Adenomatous polyposis coli (APC) (e.g., familial adenomatous polyposis [FAP], attenuated FAP) gene analysis; full gene sequence APC (e.g., FAP, attenuated FAP) gene analysis; known familial variants APC (e.g., FAP, attenuated FAP) gene analysis; duplication/deletion variants Branched-chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB) (e.g., Maple syrup urine disease) gene analysis, common variants (e.g., R183P, G278S, E422X) BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; minor breakpoint, qualitative or quantitative BCR/ABL1 (t(9;22)) (e.g., chronic myelogenous leukemia) translocation analysis; other breakpoint, qualitative or quantitative Bloom syndrome, RecQ helicase-like (BLM) (e.g., Bloom syndrome) gene analysis, 2281del6ins7 variant BRAF (v-raf murine sarcoma viral oncogene homolog B1) (e.g., colon cancer), gene analysis, V600E variant Breast cancer 1 and 2 (BRCA1, BRCA2) (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants in BRCA1 (i.e., exon 13 del 3.835kb, exon 13 dup 6kb, exon del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb) BRCA1, BRCA2 (e.g., hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT variants BRCA1, BRCA2 (e.g., hereditary breast and ovarian cancer) gene analysis; uncommon duplication/deletion variants BRCA1 (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants (i.e., exon 13 del 3.835kb, exon 13 dup 6kb, exon del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb) BRCA1 (e.g., hereditary breast and ovarian cancer) gene analysis; known familial variant BRCA2 (e.g., hereditary breast and ovarian cancer) gene analysis; full sequence analysis BRCA2 (e.g., hereditary breast and ovarian cancer) gene analysis; known familial variant Cystic fibrosis transmembrane conductance regulator (CFTR) (e.g., cystic fibrosis) gene analysis; common variants (e.g., ACMG/ACOG guidelines) CFTR (e.g., cystic fibrosis) gene analysis; known familial variants CFTR (e.g., cystic fibrosis) gene analysis; duplication/deletion variants

2 81223 CFTR (e.g., cystic fibrosis) gene analysis; full gene sequence CFTR (e.g., cystic fibrosis) gene analysis; intron 8 poly-t analysis (e.g., male infertility) Cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19) (e.g., drug metabolism), gene analysis, common variants (e.g., *2, *3, *4, *8, *17) Cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6) (e.g., drug metabolism), gene analysis, common variants (e.g., *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN) Cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9) (e.g., drug metabolism), gene analysis, common variants (e.g., *2, *3, *5, *6) Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (e.g., bacterial artificial chromosome [BAC] or oligo-based comparative genomic hybridization [CGH] microarray analysis) Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants for chromosomal abnormalities Epidermal growth factor receptor (EGFR) (e.g., non-small cell lung cancer) gene analysis, common variants (e.g., exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q) F2 (prothrombin, coagulation factor II) (e.g., hereditary hypercoagulability) gene analysis, 20210G>A variant F5 (coagulation factor V) (e.g., hereditary hypercoagulability) gene analysis, Leiden variant Fragile X mental retardation 1 (FMR1) (e.g., fragile X mental retardation) gene analysis; evaluation to detect abnormal (e.g., expanded) alleles FMR1 (e.g., fragile X mental retardation) gene analysis; characterization of alleles (e.g., expanded size and methylation status) Fms-related tyrosine kinase 3 (FLT3) (e.g., acute myeloid leukemia), gene analysis, internal tandem duplication (ITD) variants (ie, exons 14, 15) Glucose-6-phosphatase, catalytic subunit (G6PC) (e.g., Glycogen storage disease, Type 1a, von Gierke disease) gene analysis, common variants (e.g., R83C, Q347X) Glucosidase, beta, acid (GBA) (e.g., Gaucher disease) gene analysis, common variants (e.g., N370S, 84GG, L444P, IVS2+1G>A) Gap junction protein, beta 2 (GJB2), 26kDa, connexin 26 (e.g., nonsyndromic hearing loss) gene analysis; full gene sequence GJB2 (e.g., nonsyndromic hearing loss) gene analysis; known familial variants Gap junction protein, beta 6 (GJB6), 30kDa, connexin 30 (e.g., nonsyndromic hearing loss) gene analysis, common variants (e.g., 309kb [del(gjb6-d13s1830)] and 232kb [del(gjb6- D13S1854)]) Hexosaminidase A (HEXA [alpha polypeptide]) (e.g., Tay-Sachs disease) gene analysis, common variants (e.g., 1278insTATC, G>C, G269S) Hemochromatosis (HFE) (e.g., hereditary hemochromatosis) gene analysis, common variants (e.g., C282Y, H63D)

3 Alpha globin 1 and alpha globin 2 (HBA1/HBA2) (e.g., alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis, for common deletions or variant (e.g., Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5 and Constant Spring) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP) (e.g., familial dysautonomia) gene analysis, common variants (e.g., T>C, R696P) Immunoglobulin heavy chain locus (IGH@) (e.g., leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); amplified methodology (e.g., polymerase chain reaction) IGH@ (e.g., leukemias and lymphomas, B-cell), gene rearrangement analysis to detect abnormal clonal population(s); direct probe methodology (e.g., Southern blot) IGH@ (e.g., leukemia and lymphoma, B-cell), variable region somatic mutation analysis IGK@ (e.g., leukemia and lymphoma, B-cell), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) Comparative analysis using short tandem repeat (STR) markers; patient and comparative specimen (e.g., pretransplant recipient and donor germline testing, post-transplant nonhematopoietic recipient germline [e.g., buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells) Comparative analysis using STR markers; each additional specimen (e.g., additional cord blood donor, additional fetal samples from different cultures, or additional zygosity in multiple birth pregnancies) (List separately in addition to code for primary procedure) Chimerism (engraftment) analysis, post transplantation specimen (e.g., hematopoietic stem cell), includes comparison to previously performed baseline analyses; without cell selection Chimerism (engraftment) analysis, post transplantation specimen (e.g., hematopoietic stem cell), includes comparison to previously performed baseline analyses; with cell selection (e.g., CD3, CD33), each cell type Janus kinase 2 (JAK2) (e.g., myeloproliferative disorder) gene analysis, p.val617phe (V617F) variant KRAS (v-ki-ras2 Kirsten rat sarcoma viral oncogene) (e.g., carcinoma) gene analysis, variants in codons 12 and 13 Long QT syndrome gene analyses (e.g., KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1 and ANK2); full sequence analysis Long QT syndrome gene analyses (e.g., KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1 and ANK2); known familial sequence variant Long QT syndrome gene analyses (e.g., KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP, SNTA1 and ANK2); duplication/deletion variants Mucolipin 1 (MCOLN1) (e.g., Mucolipidosis, type IV) gene analysis, common variants (e.g., IVS3-2A>G, del6.4kb) 5,10-methylenetetrahydrofolate reductase (MTHFR) (e.g., hereditary hypercoagulability) gene analysis, common variants (e.g., 677T, 1298C) MutL homolog 1 (MLH1, colon cancer, non-polyposis type 2) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis

4 MLH1 (colon cancer, non-polyposis type 2) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants MLH1 (colon cancer, non-polyposis type 2) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants MutS homolog 2 (MSH2, colon cancer, non-polyposis type 1) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis MSH2 (colon cancer, non-polyposis type 1) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants MSH2 (colon cancer, non-polyposis type 1) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants MutS homolog 6 (MSH6 [E. coli]) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis MSH6 (E. coli) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants MSH6 (E. coli) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants Microsatellite instability analysis (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) of markers for mismatch repair deficiency (e.g., BAT25, BAT26), includes comparison of neoplastic and normal tissue, if performed Methyl CpG binding protein 2 (MECP2) (e.g., Rett syndrome) gene analysis; full sequence analysis MECP2 (e.g., Rett syndrome) gene analysis; known familial variant MECP2 (e.g., Rett syndrome) gene analysis; duplication/deletion variants Nucleophosmin (NPM1) (e.g., acute myeloid leukemia) gene analysis, exon 12 variants Promyelocytic leukemia/retinoic acid receptor alpha (PML/RARalpha), (t(15;17)) (e.g., promyelocytic leukemia) translocation analysis; common breakpoints (e.g., intron 3 and intron 6), qualitative or quantitative PML/RARalpha, (t(15;17)), (e.g., promyelocytic leukemia) translocation analysis; single breakpoint (e.g., intron 3, intron 6 or exon 6), qualitative or quantitative Postmeiotic segregation increased 2 (S. cerevisiae) (PMS2) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis PMS2 (S. cerevisiae) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants PMS2 (S. cerevisiae) (e.g., hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants Phosphatase and tensin homolog (PTEN) (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis PTEN (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; known familial variant PTEN (e.g., Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; duplication/deletion variant

5 Peripheral myelin protein 22 (PMP22) (e.g., Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis PMP22 (e.g., Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; full sequence analysis PMP22 (e.g., Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; known familial variant Sphingomyelin phosphodiesterase 1 (SMPD1, acid lysosomal) (e.g., Niemann-Pick disease, Type A) gene analysis, common variants (e.g., R496L, L302P, fsp330) Small nuclear ribonucleoprotein polypeptide N and ubiquitin protein ligase E3A (SNRPN/UBE3A) (e.g., Prader-Willi syndrome and/or Angelman syndrome), methylation analysis Serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1 (SERPINA1) (e.g., alpha-1-antitrypsin deficiency), gene analysis, common variants (e.g., *S and *Z) T cell antigen receptor, beta (TRB@) (e.g., leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using amplification methodology (e.g., polymerase chain reaction) TRB@ (e.g., leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s); using direct probe methodology (e.g., Southern blot) TRG@ (e.g., leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population(s) UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) (e.g., irinotecan metabolism), gene analysis, common variants (e.g., *28, *36, *37) Vitamin K epoxide reductase complex, subunit 1 (VKORC1) (e.g., warfarin metabolism), gene analysis, common variants (e.g., -1639/3673) Molecular pathology procedure, Level 1 (e.g., identification of single germline variant [e.g., SNP] by techniques such as restriction enzyme digestion or melt curve analysis) acyl-coa dehydrogenase, C-4 to C-12 straight chain, MCAD (ACADM) (e.g., medium chain acyl dehydrogenase deficiency), K304E variant angiotensin converting enzyme (ACE) (e.g., hereditary blood pressure regulation), insertion/deletion variant angiotensin II receptor, type 1 (AGTR1) (e.g., essential hypertension), 1166A>C variant chemokine C-C motif receptor 5 (CCR5) (e.g., HIV resistance), 32-bp deletion mutation/ del32 deletion dihydropyrimidine dehydrogenase (DPYD) (e.g., 5-fluorouracil/5-FU and capecitabine drug metabolism), IVS14+1G>A variant F2 (coagulation factor 2) (e.g., hereditary hypercoagulability), 1199G>A variant F5 (coagulation factor V) (e.g., hereditary hypercoagulability), HR2 variant F7 (coagulation factor VII [serum prothrombin conversion accelerator]) (e.g., hereditary hypercoagulability), R353Q variant F13B (coagulation factor XIII, B polypeptide) (e.g., hereditary hypercoagulability), V34L variant fibrinogen beta chain (FGB) (e.g., hereditary ischemic heart disease), -455G>A variant Human Platelet Antigen 1 genotyping (HPA-1), integrin, beta 3 (ITGB3 [platelet glycoprotein IIIa], antigen CD61 [GPIIIa]) (e.g., neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-1a/b (L33P) Human Platelet Antigen 2 genotyping (HPA-2), glycoprotein Ib (GP1BA [platelet], alpha polypeptide [GPIba]) (e.g., neonatal alloimmune thrombocytopenia [NAIT], posttransfusion purpura), HPA-2a/b (T145M) Human Platelet Antigen 3 genotyping (HPA-3),

6 81401 integrin, alpha 2b (ITGA2B [platelet glycoprotein IIb of IIb/IIIa complex], antigen CD41 [GPIIb]) (e.g., neonatal alloimmune thrombocytopenia [NAIT], post-transfusion purpura), HPA-3a/b (I843S) Human Platelet Antigen 4 genotyping (HPA-4), integrin, beta 3 (ITGB3 [platelet glycoprotein IIIa], antigen CD61 [GPIIIa]) (e.g., NAIT, post-transfusion purpura), HPA-4a/b (R143Q) Human Platelet Antigen 5 genotyping (HPA-5), integrin, alpha 2 (ITGA2 [CD49B, alpha 2 subunit of VLA-2 receptor] [GPIa]) (e.g., NAIT, post-transfusion purpura), HPA-5a/b (K505E) Human Platelet Antigen 6 genotyping (HPA-6w), ITGB3 (platelet glycoprotein IIIa, antigen CD61 [GPIIIa]) (e.g., NAIT, post-transfusion purpura), HPA-6a/b (R489Q) Human Platelet Antigen 9 genotyping (HPA-9w), integrin, alpha 2b (ITGA2B [platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41] [GPIIb]) (e.g., NAIT, post-transfusion purpura), HPA-9a/b (V837M) Human Platelet Antigen 15 genotyping (HPA-15), CD109 (CD109 molecule) (e.g., NAIT, post-transfusion purpura), HPA-15a/b(S682Y) serpine peptidase inhibitor clade E, member 1, plasminogen activator inhibitor -1, PAI-1 (SERPINE1) (e.g., thrombophilia), 4G variant Molecular pathology procedure, Level 2 (e.g., two to 10 SNPs, one methylated variant or one somatic variant [typically using nonsequencing target variant analysis], or detection of a dynamic mutation disorder/triplet repeat) ABL (c-abl oncogene 1, receptor tyrosine kinase) (e.g., acquired imatinib resistance), T315I variant ACADM (acyl-coa dehydrogenase, C-4 to C- 12 straight chain, MCAD) (e.g., medium chain acyl dehydrogenase deficiency), common variants (e.g., K304E, Y42H) ADRB2 (adrenergic beta-2 receptor surface) (e.g., drug metabolism), common variants (e.g., G16R, Q27E) APOE (apolipoprotein E) (e.g., hyperlipoproteinemia type III, cardiovascular disease, alzheimer s disease), common variants (e.g., *2, *3, *4) CBFB/MYH11 (inv(16)) (e.g., acute myeloid leukemia), qualitative and quantitative, if performed CCND1/IGH (BCL1/IgH, t(11;14)) (e.g., mantle cell lymphoma) translocation analysis, major breakpoint, qualitative and quantitative, if performed CFH/ARMS2 (complement factor H/age-related maculopathy susceptibility 2) (e.g., macular degeneration), common variants (e.g., Y402H [CFH], A69S [ARMS2]) CYP3A4 (cytochrome P450, family 3, subfamily A, polypeptide 4) (e.g., drug metabolism), common variants (e.g., *2, *3, *4, *5, *6) CYP3A5 (cytochrome P450, family 3, subfamily A, polypeptide 5) (e.g., drug metabolism), common variants (e.g., *2, *3, *4, *5, *6) DMPK (dystrophia myotonicaprotein kinase) (e.g., myotonic dystrophy, type 1), evaluation to detect abnormal (e.g., expanded) alleles F11 (coagulation factor XI) (e.g., coagulation disorder), common variants (e.g., E117X [Type II], F283L [Type III], IVS14del14, and IVS14+1G>A [Type I]) FGFR3 (fibroblast growth factor receptor 3) (e.g., achondroplasia), common variants (e.g., 1138G>A, 1138G>C) FIP1L1/PDGFRA (del[4q12]) (e.g., imatinib-sensitive chronic eosinophilic leukemia), qualitative and quantitative, if performed GALT (galactose-1-phosphate uridylyltransferase) (e.g., galactosemia), common variants (e.g., Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2A>G, P171S, del5kb, N314D, L218L/N314D) HBB (hemoglobin, beta) (e.g., sickle cell anemia, hemoglobin C, hemoglobin E), common variants (e.g., HbS, HbC, HbE) HTT (huntingtin) (e.g., Huntington disease), evaluation to detect abnormal (e.g., expanded) alleles RUNX1/RUNX1T1 (t(8;21)) (e.g., acute myeloid leukemia) translocation analysis, qualitative, and quantitative, if performed SEPT9 (Septin 9) (e.g., colon cancer), methylation analysis TPMT (thiopurine S-methyltransferase) (e.g., drug metabolism), common variants (e.g., *2, *3) VWF (von Willebrand factor) (e.g., von Willebrand disease type 2N), common variants (e.g., T791M, R816W, R854Q)

7 Molecular pathology procedure, Level 3 (e.g., greater than 10 SNPs, 2-10 methylated variants or 2-10 somatic variants [typically using non-sequencing target variant analysis], immunoglobulin and T-cell receptor gene rearrangements, duplication/deletion variants 1 exon) CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2) (e.g., congenital adrenal hyperplasia, 21-hydroxylase deficiency), common variants (e.g., IVS2-13G, P30L, I172N, exon 6 mutation cluster [I235N, V236E, M238K], V281L, L307FfsX6, Q318X, R356W, P453S, G110VfsX21, 30-kb deletion variant) ESR1/PGR (receptor 1/progesterone receptor) ratio (e.g., breast cancer) KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (e.g., mastocytosis), common variants (e.g., D816V, D816Y, D816F) MEFV (Mediterranean fever) (e.g., familial Mediterranean fever), common variants (e.g., E148Q, P369S, F479L, M680I, I692del, M694V, M694I, K695R, V726A, A744S, R761H) MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) (e.g., myeloproliferative disorder), common variants (e.g., W515A, W515K, W515L, W515R) TRD@ (T cell antigen receptor, delta) (e.g., leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population Molecular pathology procedure, Level 4 (e.g., analysis of single exon by DNA sequence analysis, analysis of greater than 10 amplicons using multiplex PCR in two or more independent reactions, mutation scanning or duplication/deletion variants of two to five exons) c-abl oncogene 1, receptor tyrosine kinase (ABL1) (e.g., acquired imatinib tyrosine kinase inhibitor resistance), variants in the kinase domain deleted in azoospermia and sex determining region Y (DAZ/SRY) (e.g., male infertility), common deletions (e.g., AZFa, AZFb, AZFc, AZFd) gap junction protein, beta 1 (GJB1) (e.g., Charcot-Marie-Tooth X-linked), full gene sequence (Janus kinase 2 (JAK2) (e.g., myeloproliferative disorder), exon 12 sequence and exon 13 sequence, if performed KRAS (v-ki-ras2 Kirsten rat sarcoma viral oncogene) (e.g., carcinoma), gene analysis, variant(s) in exon 2 MPL (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, TPOR) (e.g., myeloproliferative disorder), exon 10 sequence von Hippel-Lindau tumor suppressor (VHL) (e.g., von Hippel-Lindau familial cancer syndrome), deletion/duplication analysis von Willebrand factor (VWF) (e.g., von Willebrand disease types 2A, 2B, 2M), targeted sequence analysis (e.g., exon 28) Molecular pathology procedure, Level 5 (e.g., analysis of two to five exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of sixe to 10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis) biotinidase (BTD) (e.g., biotinidase deficiency), full gene sequence cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) (e.g., primary congenital glaucoma), full gene sequence dystrophia myotonica-protein kinase (DMPK) (e.g., myotonic dystrophy type 1), characterization of abnormal (e.g., expanded) alleles early growth response 2 (EGR2) (e.g., Charcot-Marie-Tooth), full gene sequence fukutin related protein (FKRP) (e.g., congenital muscular dystrophy type 1C [MDC1C], limb-girdle muscular dystrophy [LGMD] type 2I), full gene sequence forkhead box G1 (FOXG1) (e.g., Rett syndrome), full gene sequence facioscapulohumeral muscular dystrophy 1A (FSHMD1A) (e.g., facioscapulohumeral muscular dystrophy), evaluation to detect abnormal (e.g., deleted) alleles FSHMD1A (e.g., facioscapulohumeral muscular dystrophy), characterization of haplotype(s) (i.e., chromosome 4A and 4B haplotypes) HBB (hemoglobin, beta, Beta-Globin) (e.g., thalassemia), full gene sequence KIT (C-kit) (v-kit Hardy-Zuckerman 4 feline sarcoma viral

8 oncogene homolog) (e.g., GIST, acute myeloid leukemia, melanoma), targeted gene analysis (e.g., exons 8, 11, 13, 17, 18) LITAF (lipopolysaccharide-induced TNF factor) (e.g., Charcot- Marie-Tooth), full gene sequence MEFV (Mediterranean fever) (e.g., familial Mediterranean fever), full gene sequence neuroblastoma RAS viral oncogene homolog (NRAS) (e.g., colorectal carcinoma), exon 1 and exon 2 sequences platelet-derived growth factor receptor alpha polypeptide (PDGFRA) (e.g., gastrointestinal stromal tumor), targeted sequence analysis (e.g., exons 12, 18) ret proto-oncogene (RET) (e.g., multiple endocrine neoplasia, type 2B and familial medullary thyroid carcinoma), common variants (e.g., M918T, 2647_2648delinsTT, A883F) SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein) (e.g., hereditary paraganglioma), full gene sequence VHL tumor suppressor (e.g., von Hippel-Lindau familial cancer syndrome), full gene sequence VWF (e.g., von Willebrand disease type 1C), targeted sequence analysis (e.g., exons 26, 27, 37) Molecular pathology procedure, Level 6 (e.g., analysis of six to 10 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 11 to 25 exons) cytochrome P450, family 21, subfamily A, polypeptide2 (CYP21A2) (e.g., steroid 21-hydroxylase isoform, congenital adrenal hyperplasia), full gene sequence fukutin (FKTN) (e.g., limb-girdle muscular dystrophy [LGMD] type 2M or 2L), full gene sequence myelin protein zero (MPZ) (e.g., Charcot-Marie-Tooth), full gene sequence neurofilament, light polypeptide (NEFL) (e.g., Charcot-Marie-Tooth), full gene sequence ret proto-oncogene (RET) (e.g., multiple endocrine neoplasia, type 2A and familial medullary thyroid carcinoma), targeted sequence analysis (e.g., exons 10, 11, 13-16) succinate dehydrogenase complex, subunit B, iron sulfur (SDHB) (e.g., hereditary paraganglioma), full gene sequence transforming growth factor, beta receptor 1 (TGFBR1) (e.g., Marfan syndrome), full gene sequence transforming growth factor, beta receptor 2 (TGFBR2) (e.g., Marfan syndrome), full gene sequence thyroid hormone receptor, beta (THRB) (e.g., thyroid hormone resistance, thyroid hormone beta receptor deficiency), full gene sequence or targeted sequence analysis of greater than five exons tumor protein 53 (TP53) (e.g., Li-Fraumeni syndrome, tumor samples), full gene sequence or targeted sequence analysis of greater than five exons VWF (e.g., von Willebrand disease type 2N), targeted sequence analysis (e.g., exons 18 to 20, 23 to 25) Molecular pathology procedure, Level 7 (e.g., analysis of 11 to 25 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 26 to 50 exons, cytogenomic array analysis for neoplasia) Calpain 3 (CAPN3) (e.g., limb-girdle muscular dystrophy [LGMD] type 2A, calpainopathy), full gene sequence cytogenomic microarray analysis, neoplasia (e.g., interrogation of copy number, and loss-of-heterozygosity via single nucleotide polymorphism [SNP]-based comparative genomic hybridization [CGH] microarray analysis) GALT (galactose-1-phosphate uridylyltransferase) (e.g., galactosemia), full gene sequence HEXA (hexosaminidase A, alpha polypeptide) (e.g., Tay-Sachs disease), full gene sequence LMNA (lamin A/C) (e.g., Emery-Dreifuss muscular dystrophy [EDMD1, 2 and 3] limb-girdle muscular dystrophy [LGMD] type 1B, dilated cardiomyopathy [CMD1A], familial partial lipodystrophy [FPLD2]), full gene sequence PAH (phenylalanine hydroxylase) (e.g., phenylketonuria), full gene sequence polymerase (DNA directed), gamma (POLG) (e.g., Alpers-Huttenlocher syndrome, autosomal dominant progressive external ophthalmoplegia), full gene sequence POMGNT1 (protein O-linked mannose beta1,2-n

9 acetylglucosaminyltransferase) (e.g., muscle-eye-brain disease, Walker-Warburg syndrome), full gene sequence protein-o-mannosyltransferase 1 (POMT1) (e.g., limb-girdle muscular dystrophy [LGMD] type 2K, Walker-Warburg syndrome), full gene sequence protein-omannosyltransferase 2 (POMT2) (e.g., limb-girdle muscular dystrophy [LGMD] type 2N, Walker-Warburg syndrome), full gene sequence ryanodine receptor 1 (RYR1, skeletal) (e.g., malignant hyperthermia), targeted sequence analysis of exons with functionally confirmed mutations VWF (von Willebrand disease type 2A), extended targeted sequence analysis (e.g., exons 11 to 16, 24 to 26, 51, 52) Molecular pathology procedure, Level 8 (e.g., analysis of 26 to 50 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of greater than 50 exons, sequence analysis of multiple genes on 1 platform) sodium channel, voltage-gated, type 1, alpha subunit (SCN1A) (e.g., generalized epilepsy with febrile seizures), full gene sequence Molecular pathology procedure, Level 9 (e.g., analysis of greater than 50 exons in a single gene by DNA sequence analysis) fibrillin 1 (FBN1) (e.g., Marfan syndrome), full gene sequence neurofibromin 1 (NF1) (e.g., neurofibromatosis, type 1), full gene sequence ryanodine receptor 1 (RYR1, skeletal) (e.g., malignant hyperthermia), full gene sequence VWF (e.g., von Willebrand disease types 1 and 3), full gene sequence Unlisted molecular pathology procedure Cell enumeration using immunologic selection and identification in fluid specimen (e.g., circulating tumor cells in blood); Cell enumeration using immunologic selection and identification in fluid specimen (e.g., circulating tumor cells in blood); physician interpretation and report, when required Nuclear Matrix Protrein 22 (NMP22) qualitative Assay of b-hexosminidase Immunoassay of tumor antigen, other antigen, quantitative CA and Tissue culture for non-neoplastic disorders; lymphocyte Tissue culture for non-neoplastic disorders; amniotic fluid or chorionic villus cells Chromosome analysis for breakage syndromes; baseline breakage, score 50 to 100 cells, count 20 cells, two karyotypes (e.g., for ataxia telangiectasia, Fanconi anemia, fragile X) Chromosome analysis; count five cells, one karyotype, with banding Chromosome analysis; count 15 to 20 cells, two karyotypes, with banding Chromosome analysis; count 45 cells for mosaicism, two karyotypes, with banding Chromosome analysis; analyze 20 to 25 cells Chromosome analysis, amniotic fluid or chorionic villus, count 15 cells, one karyotype, with banding Chromosome analysis, in situ for amniotic fluid cells, count cells from six to 12 colonies, one karyotype, with banding Molecular cytogenetics; DNA probe, each (e.g., FISH) Molecular cytogenetics; chromosomal in situ hybridization, analyze three to five cells (e.g., for derivatives and markers) Molecular cytogenetics; chromosomal in situ hybridization, analyze 10 to 30 cells (e.g., for microdeletions)

10 88274 Molecular cytogenetics; interphase in situ hybridization, analyze 25 to 99 cells Molecular cytogenetics; interphase in situ hybridization, analyze 100 to 300 cells Chromosome analysis; additional karyotypes, each study Chromosome analysis; additional specialized banding technique (e.g., NOR, C-banding) Chromosome analysis; additional cells counted, each study Chromosome analysis; additional high-resolution study Cytogenetics and molecular cytogenetics, interpretation and report Unlisted cytogenetic study Alterations p53 gene Array based analysis of multiple molecular probes, probes one to Array based analysis of multiple molecular probes, probes 11 to Array based analysis of multiple molecular probes, probes 51 to 250 S3800 Genetic testing for ALS S3828 Complete gene sequence analysis; MLH1 gene S3829 Complete gene sequence analysis; MLH2 gene S3830 Complete MLH1 and MLH2 gene sequence analysis for hereditary nonpolyposis colorectal cancer (HNPCC) genetic testing S3831 Single-mutation analysis (in individual with a known MLH1 and MLH2 mutation in the family) for HNPCC genetic testing S3833 S3835 S3837 S3840 S3841 S3842 S3843 S3844 S3845 S3846 S3847 S3848 S3849 S3850 S3851 S3852 S3853 S3854 S3855 S3890 Complete APC gene sequence analysis for susceptibility to FAP and attenuated FAP Complete gene sequence analysis for cystic fibrosis genetic testing Complete sequence analysis for hemochromotosis genetic testing DNA analysis for germline mutations of the ret-proto-oncogene susceptibility to multiple endocrine neoplasia type 2 Genetic testing for retinoblastoma Genetic testing for von Hippel-Landau disease DNA analysis for f5 gene for susceptibility for Factor V Leiden thrombophilia DNA analysis of the connexin 26 gene for susceptibility to congenital profound deafness Genetic testing for alphathalessemia Genetic testing for hemoglobin E beta-thalassemia Genetic testing for Tay-Sachs disease Genetic testing for Gaucher disease Genetic testing for Niemann-Pick disease Genetic testing for sickle cell disease Genetic testing for Canavan disease DNA analysis for apoe epilson 4 allele for susceptibility to alzheimer's disease Genetic testing for myotonic muscular dystrophy Gene expression profiling panel for use in the management of breast cancer treatment Genetic testing for detection of mutations in presenlin - one gene DNA analysis, fecal for CRC screening

11 S3860 S3861 S3862 S3865 S3866 S3870 Genetic testing, comprehensive cardiac ion channel analysis, for variants in five major cardiac ion channel genes for individuals with high index of suspicion for familial Long QT syndrome or related disorders Genetic testing, sodium channel, voltage gated, type v, alpha subunit (scn5a) and variants for suspected brugada syndrome Genetic testing, family-specific ion channel analysis, for blood relatives of individuals (index case) who have previously tested positive for a genetic variant or a cardiac ion channel syndrome using either one of the above test configurations or confirmed results from another laboratory Comprehensive gene sequence analysis for hypertrophic cardiomyopathy Genetic analysis for a specific gene mutation for hypertrophic cardiomyopathy (HCM) in an individual with a known HCM mutation in the family Comparative genomic hybrization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or mental retardation