PRICE AND TEST LIST January 4, 2018 (by Test Code)

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1 Test Code Test Description TAT Price 2018 CPT Codes WHOLE EXOME SEQUENCING WES001 MNG Exome TM Trio Sequencing and Copy Number Analysis + mtdna (Proband + 2 Family Members) 2-4 Weeks $6, , 81416, 81460, WES002 Additional Family Member (ony available when trio is ordered) 2-4 Weeks $2, WES003 MNG Exome TM Proband Only Sequencing and Copy Number Analysis + mtdna 2-4 Weeks $5, , 81460, CARRIER SCREENING NGS415 Ashkenazi Jewish Carrier Screen 2-4 Weeks $ , NGS416 Pan-European Carrier Screen 2-4 Weeks $1, , WES006 MNG Carrier Exome Sequencing and Copy Number Analysis + mtdna (for couples only) 2-4 Weeks $5, , HEALTHY WHOLE EXOME SEQUENCING WES007 MNG Healthy Exome Sequencing and Copy Number Analysis + mtdna 2-4 Weeks $2, RNA SEQUENCING RNA001 MNG Transcriptome 2-4 Weeks $1, RNA002 Panel-Specific RNA Sequencing 2-4 Weeks $1, RNA003 Gene-Specific RNA Sequencing Targeted Analysis 2-4 Weeks $ ENZYMOLOGY 5424 Glenridge Drive NE Atlanta, GA USA toll-free: fax: mnglabs.com CLIA License #11D ; GA License # ; MD License #1241; FL License # ; NY PFI #8159; CA License #COS When ordering tests, please use our test requisition forms available from our website at For information on contracting with us, please call and a customer service representative will direct your call. This document is subject to change at the discretion of MNG Labs, any previous versions are considered invalid. Please refer to for the newest version. VISIT TO SUBMIT QUESTIONS BY SECURE HIPAA-COMPLIANT . VISIT FOR DESCRIPTIONS OF EACH TEST, AS WELL AS MOLECULAR DIFFERENTIAL DIAGNOSIS SEARCH. ORDER TEST KITS ONLINE AT FOR SIMPLIFIED SAMPLE PROCESSING, AND FREE INBOUND AND RETURN SHIPPING. (WE GLADLY ACCEPT DELIVERIES MONDAY-SATURDAY, EXCLUDING HOLIDAYS.) CPT codes provided here are for reference purpose only. They are not an assurance of approval nor reimbursement. PRICE AND TEST LIST January 4, 2018 (by Test Code) FULLTESTLIST.23 1 of 16

2 ENZ01 Aromatic L-amino Acid Decarboxylase Enzyme Analysis (Plasma) 3 Weeks $ , ENZ06 Thymidine Phosphorylase Enzyme Analysis (Blood) 3 Weeks $ METABOLIC ANALYSES MET01 Amino Acids (CSF) Days $ MET02 Amino Acids (Plasma) Days $ MET03 Amino Acids (Urine) Days $ MET04 Coenzyme Q10 (Leukocytes) Days $ MET05 Coenzyme Q10 (Muscle) Days $ MET07 Lactate (CSF) Days $ MET08 Lactate (plasma) Days $ MET09 Phenylalanine Loading Assay (Plasma) Days $ MET10 Pyruvate (Blood) Days $ MET11 Pyruvate (CSF) Days $ MET12 Thymidine/Deoxyuridine Analytes (Plasma) Days $ MET19 Creatine and Guanidinoacetate (Urine) Days $ MET20 Alpha Aminoadipic Semialdehyde (Urine) Days $ MET21 Sialic Acid (Urine) Days $ MET22 Folate Receptor Antibody Assay (Plasma/Serum) Days $ MET23 Creatine and Guanidinoacetate (Plasma) Days $ MET24 Glucose (Plasma) Days $ MET25 Folate Receptor Antibody Assay (CSF) Days $ MET29 3-O-Methyldopa (Plasma) Days $ GENE SEQUENCING (SANGER), DELETION/DUPLICATION (MLPA), POINT MUTATIONS - INDIVIDUAL GENES & PANELS MOL001 Mitochondrial DNA Depletion Testing (Muscle) 2-4 Weeks $ MOL002 Mitochondrial DNA Deletion Analysis 2-4 Weeks $ MOL021 Mitochondrial Genome Sequencing 2-4 Weeks $ MOL022 HADHA Mutation Screen: c.1528g>c, E510Q 2-4 Weeks $ MOL023 ACADM Mutation Screen: c.985a>g, K329E 2-4 Weeks $ MOL024 PYGM Mutation Screen: c.148c>t, R50X; c.613g>a, G205S; c.1628a>c, K543T 2-4 Weeks $ MOL025 DDC Full Gene Sequencing Analysis 2-4 Weeks $ MOL026 ABCB7 Full Gene Sequencing Analysis 2-4 Weeks $ MOL027 ACADM Full Gene Sequencing Analysis 2-4 Weeks $ MOL028 ACADS Full Gene Sequencing Analysis 2-4 Weeks $ of 16

3 MOL029 ACADVL Full Gene Sequencing Analysis 2-4 Weeks $ MOL030 ALDH7A1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL031 SLC25A4 Full Gene Sequencing Analysis 2-4 Weeks $ MOL032 ATP1A2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL033 CACNA1A Full Gene Sequencing Analysis 2-4 Weeks $1, MOL034 CAPN3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL035 CAV3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL036 NDUFS1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL037 NDUFS4 Full Gene Sequencing Analysis 2-4 Weeks $ MOL038 NDUFS7 Full Gene Sequencing Analysis 2-4 Weeks $ MOL039 NDUFS8 Full Gene Sequencing Analysis 2-4 Weeks $ MOL040 NDUFV1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL041 SDHA Full Gene Sequencing Analysis 2-4 Weeks $ MOL042 SDHB Full Gene Sequencing Analysis 2-4 Weeks $ MOL043 SDHC Full Gene Sequencing Analysis 2-4 Weeks $ MOL044 SDHD Full Gene Sequencing Analysis 2-4 Weeks $ MOL045 BCS1L Full Gene Sequencing Analysis 2-4 Weeks $ MOL046 COQ2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL047 COX10 Full Gene Sequencing Analysis 2-4 Weeks $ MOL048 COX15 Full Gene Sequencing Analysis 2-4 Weeks $ MOL049 CPT1A Full Gene Sequencing Analysis 2-4 Weeks $ MOL050 CPT2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL051 DGUOK Full Gene Sequencing Analysis 2-4 Weeks $ MOL052 DYSF Full Gene Sequencing Analysis 2-4 Weeks $1, MOL053 TYMP Full Gene Sequencing Analysis 2-4 Weeks $ MOL054 EIF2B1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL055 EIF2B2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL056 EIF2B3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL057 EIF2B4 Full Gene Sequencing Analysis 2-4 Weeks $ MOL058 EIF2B5 Full Gene Sequencing Analysis 2-4 Weeks $ MOL059 FXN Full Gene Sequencing Analysis 2-4 Weeks $ MOL060 GCH1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL061 GYS2 Full Gene Sequencing Analysis 2-4 Weeks $ of 16

4 MOL062 HADHA Full Gene Sequencing Analysis 2-4 Weeks $ MOL063 HADHB Full Gene Sequencing Analysis 2-4 Weeks $ MOL064 KCNA1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL065 LAMA2 Full Gene Sequencing Analysis 2-4 Weeks $1, MOL066 LMNA Full Gene Sequencing Analysis 2-4 Weeks $ MOL067 MECP2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL068 MPV17 Full Gene Sequencing Analysis 2-4 Weeks $ MOL069 OPA1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL070 PDHA1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL071 PDSS1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL072 PDSS2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL073 C10ORF2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL074 PNPO Full Gene Sequencing Analysis 2-4 Weeks $ MOL075 POLG Full Gene Sequencing Analysis 2-4 Weeks $ MOL076 PYGM Full Gene Sequencing Analysis 2-4 Weeks $ MOL077 RRM2B Full Gene Sequencing Analysis 2-4 Weeks $ MOL078 SGCA Full Gene Sequencing Analysis 2-4 Weeks $ MOL079 SGCB Full Gene Sequencing Analysis 2-4 Weeks $ MOL080 SGCD Full Gene Sequencing Analysis 2-4 Weeks $ MOL081 SGCG Full Gene Sequencing Analysis 2-4 Weeks $ MOL082 SCO1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL083 SCO2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL085 SLC25A20 Full Gene Sequencing Analysis 2-4 Weeks $ MOL086 HSPD1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL087 SPG7 Full Gene Sequencing Analysis 2-4 Weeks $ MOL088 SUCLA2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL089 SUCLG1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL090 SURF1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL091 TH Full Gene Sequencing Analysis 2-4 Weeks $ MOL092 TPH2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL093 UBE3A Full Gene Sequencing Analysis 2-4 Weeks $ MOL094 DARS2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL095 SLC18A2 Full Gene Sequencing Analysis 2-4 Weeks $ of 16

5 MOL096 PTS Full Gene Sequencing Analysis 2-4 Weeks $ MOL097 SLC6A3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL098 TIMM8A Full Gene Sequencing Analysis 2-4 Weeks $ MOL099 MRPS16 Full Gene Sequencing Analysis 2-4 Weeks $ MOL100 UQCRB Full Gene Sequencing Analysis 2-4 Weeks $ MOL101 NDUFAF2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL102 NDUFA1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL103 NDUFS2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL104 NDUFS3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL105 NDUFV2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL106 NDUFAF1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL107 PUS1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL108 TUFM Full Gene Sequencing Analysis 2-4 Weeks $ MOL109 POLG2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL110 APTX Full Gene Sequencing Analysis 2-4 Weeks $ MOL111 TAZ Full Gene Sequencing Analysis 2-4 Weeks $ MOL112 ATPAF2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL113 GFM1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL114 MFN2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL115 LRPPRC Full Gene Sequencing Analysis 2-4 Weeks $ MOL116 GLRA1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL117 QDPR Full Gene Sequencing Analysis 2-4 Weeks $ MOL118 RNASEH2B Full Gene Sequencing Analysis 2-4 Weeks $ MOL119 TREX1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL120 GLRB Full Gene Sequencing Analysis 2-4 Weeks $ MOL121 SLC2A1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL122 GFAP Full Gene Sequencing Analysis 2-4 Weeks $ MOL124 RNASEH2A Full Gene Sequencing Analysis 2-4 Weeks $ MOL125 ALDH5A1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL126 SPR Full Gene Sequencing Analysis 2-4 Weeks $ MOL127 SLC6A5 Full Gene Sequencing Analysis 2-4 Weeks $ MOL128 COQ3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL129 COQ4 Full Gene Sequencing Analysis 2-4 Weeks $ of 16

6 MOL131 COQ6 Full Gene Sequencing Analysis 2-4 Weeks $ MOL132 COQ7 Full Gene Sequencing Analysis 2-4 Weeks $ MOL133 COQ9 Full Gene Sequencing Analysis 2-4 Weeks $ MOL137 TPM3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL138 ZMPSTE24 Full Gene Sequencing Analysis 2-4 Weeks $ MOL139 MTM1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL140 ADCK3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL141 DBH Full Gene Sequencing Analysis 2-4 Weeks $ MOL142 ETFDH Full Gene Sequencing Analysis 2-4 Weeks $ MOL143 POMT2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL144 MYOT Full Gene Sequencing Analysis 2-4 Weeks $ MOL145 EMD Full Gene Sequencing Analysis 2-4 Weeks $ MOL146 HCCS Full Gene Sequencing Analysis 2-4 Weeks $ MOL147 BRAF Full Gene Sequencing Analysis 2-4 Weeks $ MOL148 TCAP Full Gene Sequencing Analysis 2-4 Weeks $ MOL149 FKRP Full Gene Sequencing Analysis 2-4 Weeks $ MOL150 FKTN Full Gene Sequencing Analysis 2-4 Weeks $ MOL151 NDUFAF5 Full Gene Sequencing Analysis 2-4 Weeks $ MOL152 RARS2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL153 POMT1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL154 RYR1 Full Gene Sequencing and Copy Number Analysis 2-4 Weeks $1, MOL155 GFER Full Gene Sequencing Analysis 2-4 Weeks $ MOL156 TMEM126A Full Gene Sequencing Analysis 2-4 Weeks $ MOL157 NDUFS6 Full Gene Sequencing Analysis 2-4 Weeks $ MOL158 NDUFAF3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL159 TNNI2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL160 NDUFA2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL161 NDUFA11 Full Gene Sequencing Analysis 2-4 Weeks $ MOL162 NDUFAF4 Full Gene Sequencing Analysis 2-4 Weeks $ MOL163 ETFA Full Gene Sequencing Analysis 2-4 Weeks $ MOL164 ETFB Full Gene Sequencing Analysis 2-4 Weeks $ MOL165 FASTKD2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL166 FOLR1 Full Gene Sequencing Analysis 2-4 Weeks $ of 16

7 MOL167 GARS Full Gene Sequencing Analysis 2-4 Weeks $ MOL168 RNASEH2C Full Gene Sequencing Analysis 2-4 Weeks $ MOL169 SLC25A19 Full Gene Sequencing Analysis 2-4 Weeks $ MOL170 SLC17A5 Full Gene Sequencing Analysis 2-4 Weeks $ MOL171 MTHFR Full Gene Sequencing Analysis 2-4 Weeks $ MOL172 SAMHD1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL173 TMEM70 Full Gene Sequencing Analysis 2-4 Weeks $ MOL174 UQCRQ Full Gene Sequencing Analysis 2-4 Weeks $ MOL177 Vanishing White Matter Disease Full Gene Sequencing Analysis Panel (5 Genes) 2-4 Weeks $1, MOL179 Sarcoglycan Full Gene Sequencing Analysis Panel (4 Genes) 2-4 Weeks $1, MOL180 Hyperekplexia Full Gene Sequencing Analysis Panel (5 Genes) 2-4 Weeks $1, MOL182 COX6B1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL183 AIFM1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL184 PHOX2B Full Gene Sequencing Analysis 2-4 Weeks $ MOL185 AMPD1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL186 SLC2A1 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL187 MECP2 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL189 Mitochondrial Genome Sequencing + Deletion Analysis 2-4 Weeks $1, , MOL208 CACNA1A Copy Number Analysis 2-4 Weeks $ MOL209 ADSL Full Gene Sequencing Analysis 2-4 Weeks $ MOL210 FOXRED1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL211 NUBPL Full Gene Sequencing Analysis 2-4 Weeks $ MOL212 GLDC Full Gene Sequencing Analysis 2-4 Weeks $ MOL213 GCDH Full Gene Sequencing 2-4 Weeks $ MOL214 ATP1A2 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL215 GCH1 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL216 KCNQ2 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL217 PDHA1 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL218 SCN1A MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL219 GLDC MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL222 PDHB Full Gene Sequencing Analysis 2-4 Weeks $ MOL223 PDP1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL224 DLAT Full Gene Sequencing Analysis 2-4 Weeks $ of 16

8 MOL225 DLD Full Gene Sequencing Analysis 2-4 Weeks $ MOL226 PC Full Gene Sequencing Analysis 2-4 Weeks $ MOL227 CACNB4 Full Gene Sequencing Analysis 2-4 Weeks $ MOL228 SLC1A3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL229 KCNQ2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL230 SCN1A Full Gene Sequencing Analysis 2-4 Weeks $ MOL231 SLC2A1 Full Gene Sequencing + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL232 Mitochondrial Genome Sequencing + Deletion Analysis + Depletion Testing (Leukocyte) 2-4 Weeks $1, , 81465, MOL233 SLC12A3 Full Gene Sequencing Analysis 2-4 Weeks $ MOL234 GCH1 Full Gene Sequencing + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL235 PDHA1 Full Gene Sequencing + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL236 GLDC Full Gene Sequencing + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, MOL237 DHFR Full Gene Sequencing Analysis 2-4 Weeks $ MOL238 FOXP2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL239 CAPN3 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL240 CAPN3 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL241 TACO1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL242 ACAD8 Full Gene Sequencing Analysis 2-4 Weeks $ MOL243 ACAD9 Full Gene Sequencing Analysis 2-4 Weeks $ MOL244 SLC12A3 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL245 SLC12A3 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL246 SLC6A8 Full Gene Sequencing Analysis 2-4 Weeks $ MOL247 SGCE Full Gene Sequencing Analysis 2-4 Weeks $ MOL248 SCN1A Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL249 Known Familial Mutation (KFM) Analysis (each mutation) 2-4 Weeks $ , MOL250 MPZ Full Gene Sequencing Analysis 2-4 Weeks $ MOL251 GPHN Full Gene Sequencing Analysis 2-4 Weeks $ MOL252 SLC6A4 Full Gene Sequencing Analysis 2-4 Weeks $ MOL253 PGAM2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL254 CHKB Full Gene Sequencing Analysis 2-4 Weeks $ MOL255 SCN1B Full Gene Sequencing Analysis 2-4 Weeks $ MOL256 SPAST Full Gene Sequencing Analysis 2-4 Weeks $ MOL257 MECP2 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , of 16

9 MOL258 SCN9A Full Gene Sequencing 2-4 Weeks $ MOL259 Friedreich Ataxia Genetic Testing (Repeat Expansion) 2-4 Weeks $ MOL260 ACADVL MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL261 ACADVL Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL262 SLC22A5 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL264 SPAST MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL265 SPAST Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL266 ATL1/SPG3 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL267 ATL1/SPG3 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL268 CLCNKA Full Gene Sequencing Analysis 2-4 Weeks $ MOL270 KCNJ1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL271 BSND Full Gene Sequencing Analysis 2-4 Weeks $ MOL272 PFKM Full Gene Sequencing Analysis 2-4 Weeks $ MOL274 PDXK Full Gene Sequencing Analysis 2-4 Weeks $ MOL276 PMP22 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL277 GJB1 (CX32) MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL278 MPZ MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL281 DOK7 Full Gene Sequencing Analysis 2-4 Weeks $ MOL282 SGCE MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL283 SGCE Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL285 Hyperekplexia Copy Number Analysis 2-4 Weeks $ MOL286 CLCNKB MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL287 CLCNKB Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, MOL289 MTM1 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL290 MTM1 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL291 OPA1 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL292 OPA1 Full Gene Sequencing Analysis + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL293 MFN2 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL294 POLG MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL295 ATP5E Full Gene Sequencing Analysis 2-4 Weeks $ MOL297 Hyperekplexia Full Gene Sequencing Analysis Panel (5 Genes) + Copy Number Analysis 2-4 Weeks $1, MOL299 Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat Expansion) 2-4 Weeks $ MOL301 Spinal Muscular Atrophy (SMN1/SMN2) MLPA Duplication/Deletion Analysis 2-4 Weeks $ of 16

10 MOL302 Dystrophin MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL303 Myotonic Dystrophy 2 (ZNF9/CNBP) Genetic Testing (Repeat Expansion) 2-4 Weeks $ MOL305 TK2 Full Gene Sequencing Analysis 2-4 Weeks $ MOL306 ARHGEF9 Full Gene Sequencing Analysis 2-4 Weeks $ MOL307 CACNA1S Full Gene Sequencing Analysis 2-4 Weeks $1, MOL308 GLUL Full Gene Sequencing Analysis 2-4 Weeks $ MOL309 ADAR Full Gene Sequencing Analysis 2-4 Weeks $ MOL313 C10ORF2 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL314 FKRP MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL315 GARS MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL316 HSPB1 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL317 LAMA2 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL318 MPV17 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL319 NEFL MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL320 PRX MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL321 RAB7A MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL322 RRM2B MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL323 Sarcoglycan Panel MLPA Duplication/Deletion Analysis (4 Genes) 2-4 Weeks $1, MOL324 SGCA MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL325 SGCB MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL326 SGCD MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL327 SGCG MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL328 SLC25A4 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL329 TK2 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL330 KCNQ2 Full Gene Sequencing + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL331 SPTLC1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL332 GJB1 (CX32) Full Gene Sequencing Analysis 2-4 Weeks $ MOL333 GJB1 (CX32) Full Gene Sequencing + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL334 Mitochondrial DNA Depletion Testing (Leukocyte) 2-4 Weeks $ MOL335 LITAF Full Gene Sequencing Analysis 2-4 Weeks $ MOL336 SEPT9 Full Gene Sequencing Analysis 2-4 Weeks $ MOL339 DARS Full Gene Sequencing Analysis 2-4 Weeks $ MOL340 Mitochondrial Genome Sequencing + Deletion Analysis + Depletion Testing (Muscle) 2-4 Weeks $1, , 81465, of 16

11 MOL341 GNE Full Gene Sequencing Analysis 2-4 Weeks $ MOL342 DPYS Full Gene Sequencing Analysis 2-4 Weeks $ MOL343 SPG11 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL344 PMP22 Full Gene Sequencing Analysis 2-4 Weeks $ MOL345 PMP22 Full Gene Sequencing + MLPA Duplication/Deletion Analysis 2-4 Weeks $1, , MOL346 SCN10A Full Gene Sequencing Analysis 2-4 Weeks $ MOL347 SCN11A Full Gene Sequencing Analysis 2-4 Weeks $ MOL348 SCN5A Full Gene Sequencing Analysis 2-4 Weeks $ MOL349 PAH Full Gene Sequencing Analysis 2-4 Weeks $ MOL350 PKD1/PKD2 MLPA Duplication/Deletion Analysis 2-4 Weeks $ MOL351 GAMT Full Gene Sequencing Analysis 2-4 Weeks $ MOL352 GATM Full Gene Sequencing Analysis 2-4 Weeks $ MOL354 DEPDC5 Full Gene Sequencing Analysis 2-4 Weeks $ MOL355 CLCN1 Full Gene Sequencing Analysis 2-4 Weeks $ MOL356 SCN4A Full Gene Sequencing Analysis 2-4 Weeks $ MOL358 Hyperphenylalaninemia Full Gene Sequencing Analysis Panel (5 Genes) 2-4 Weeks $1, , 81406, MOL359 Creatine Metabolism Full Gene Sequencing Analysis Panel (3 Genes) 2-4 Weeks $1, MOL360 PEX6 Full Gene Sequencing Analysis 2-4 Weeks $ MOL362 TUBB4A Full Gene Sequencing Analysis 2-4 Weeks $ MOL364 C9orf72 Repeat Expansion Analysis 2-4 Weeks $ MOL366 Huntington Disease: HTT Repeat Expansion Analysis 2-4 Weeks $ MOL367 PROSC Full Gene Sequencing Analysis 2-4 Weeks $ MOL379 Spinocerebellar Ataxia Repeat Panel (SCA 8, 10, 12, 17, 36, & DRPLA) 2-4 Weeks $ MOL380 Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36, & DRPLA) 2-4 Weeks $ MOL381 Fragile X Repeat Expansion + Methylation Analysis 2-4 Weeks $ , NEUROCHEMISTRY ANALYSES NC01 5-Methyltetrahydrofolate (CSF) Days $ NC02 Neopterin (CSF) Days $ NC03 Neopterin/Tetrahydrobiopterin (CSF) Days $ NC04 Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF) Days $ , 83497, NC05 Pyridoxal 5'-phosphate (CSF) Days $ NC06 Succinyladenosine (CSF) Days $ NC07 Sialic Acid (CSF) Days $ of 16

12 NC08 Alpha-aminoadipic Semialdehyde (CSF) Days $ NC09 4-Hydroxybutyric Acid (CSF) Days $ NC10 Glucose (CSF) Days $ NEXT GENERATION SEQUENCING (NGS) PANELS NGS197 Coenzyme Q10 Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 12 Genes) 2-4 Weeks $1, , 81405, NGS198 Comprehensive mtdna Depletion Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 17 Genes) 2-4 Weeks $1, , 81465, NGS301 Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 343 Genes + mtdna) 2-4 Weeks $2, , 81460, NGS302 Carbohydrate Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 47 Genes + mtdna) 2-4 Weeks $1, , 81465, NGS303 Lipid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 46 Genes + mtdna) 2-4 Weeks $1, , 81465, NGS304 Pyruvate Metabolism Disorders (NextGen Sequencing Panel and Copy Number Analysis; 14 Genes + mtdna) 2-4 Weeks $1, , 81465, 81405, x3 NGS305 PDH/Tricarboxylic Acid Cycle (TCA) Defects (NextGen Sequencing Panel and Copy Number Analysis; 23 Genes + mtdna) 2-4 Weeks $1, , 81465, 81405, x3 NGS306 Oxidative Phosphorylation (OXPHOS) Defects (NextGen Sequencing Panel and Copy Number Analysis; 193 Genes + mtdna) 2-4 Weeks $2, , 81465, NGS307 Ceroid Lipofuscinosis Disorders (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes) 2-4 Weeks $1, , NGS308 Creatine Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 3 Genes) 2-4 Weeks $1, NGS309 Cobalamin/Homocysteine/Methionine Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 19 Genes) 2-4 Weeks $1, NGS310 GABA Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 16 Genes) 2-4 Weeks $1, NGS311 Glutaric Acidemia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 8 Genes) 2-4 Weeks $1, , NGS312 Ketone Body Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes) 2-4 Weeks $1, NGS313 Lysosomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 72 Genes) 2-4 Weeks $1, , x4, NGS314 Methylmalonic Acid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes) 2-4 Weeks $1, x2, 81406, NGS315 Neurotransmitter Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 62 Genes) 2-4 Weeks $2, NGS316 Dopamine Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes) 2-4 Weeks $1, NGS317 Serotonin Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 12 Genes) 2-4 Weeks $1, NGS318 Tetrahydrofolate Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 8 Genes) 2-4 Weeks $1, NGS319 Fever Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 36 Genes) 2-4 Weeks $1, , NGS320 Tyrosinemia (NextGen Sequencing Panel and Copy Number Analysis; 3 Genes) 2-4 Weeks $1, , NGS321 Urea Cycle Disorders (NextGen Sequencing Panel and Copy Number Analysis; 16 Genes) 2-4 Weeks $1, , 81406, NGS323 Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel and Copy Number Analysis; 28 Genes) 2-4 Weeks $1, , 81405, 81406, NGS324 Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 Genes + mtdna) 2-4 Weeks $2, NGS325 Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 902 Genes) 2-4 Weeks $2, , 81465, x1, x2, x2, x1, x1, , 81471, 81302, 81304, 81404, 81405, x2 NGS327 Congenital Glycosylation Disorders (NextGen Sequencing Panel and Copy Number Analysis; 45 Genes) 2-4 Weeks $1, NGS330 Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 460 Genes + mtdna) 2-4 Weeks $2, , 81465, 81479, 81161, x6, x2, x3 12 of 16

13 NGS331 Congenital Myasthenic Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 17 Genes) 2-4 Weeks $1, , NGS332 Hypokalemic and Hyperkalemic Periodic Paralysis Disorders (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes) 2-4 Weeks $1, , NGS333 Malignant Hyperthermia (NextGen Sequencing Panel and Copy Number Analysis; 2 Genes) 2-4 Weeks $1, , NGS335 Neurofibromatosis (NextGen Sequencing Panel and Copy Number Analysis; 21 Genes) 2-4 Weeks $1, , 81408, NGS337 Spastic Paraplegia (NextGen Sequencing Panel and Copy Number Analysis; 262 Genes + mtdna) 2-4 Weeks $1, , 81465, 81404, 81405, x3, 81407, NGS343 Peroxisomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 32 Genes) 2-4 Weeks $1, NGS344 Aicardi-Goutieres Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes) 2-4 Weeks $1, NGS345 Charcot-Marie-Tooth Disease (NextGen Sequencing Panel and Copy Number Analysis; 189 Genes + mtdna) 2-4 Weeks $2, NGS345A Charcot-Marie-Tooth Disease, Axonal (NextGen Sequencing Panel and Copy Number Analysis; 113 Genes + mtdna) 2-4 Weeks $1, NGS345D Charcot-Marie-Tooth Disease, Demyelinating (NextGen Sequencing Panel and Copy Number Analysis; 143 Genes + mtdna) 2-4 Weeks $1, , 81465, 81324, 81325, x3, x4, x , 81465, 81324, 81325, x3, x4, x , 81465, 81324, 81325, x3, x4, x3 NGS346 Hereditary Sensory & Autonomic Neuropathy (NextGen Sequencing Panel and Copy Number Analysis; 117 Genes) 2-4 Weeks $1, NGS347 Spinal Muscular Atrophy (NextGen Sequencing Panel and Copy Number Analysis; 21 Genes) 2-4 Weeks $1, , NGS348 Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 Genes) 2-4 Weeks $2, NGS349 Nonsyndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 243 Genes) 2-4 Weeks $1, , 81406, NGS350 Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 686 Genes) 2-4 Weeks $1, , 81304, 81404, 81405, NGS351 Leigh Disease (NextGen Sequencing Panel and Copy Number Analysis; 74 Genes + mtdna) 2-4 Weeks $1, , 81465, 81404, x7, x2, NGS352 Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 55 Genes + mtdna) 2-4 Weeks $1, , 81406, 81460, 81465, NGS353 Cellular Energetics Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 22 Genes + mtdna) 2-4 Weeks $1, , 81460, 81405, 81406, NGS354 Non-mitochondrial Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 32 Genes) 2-4 Weeks $1, NGS355 Cytochrome C Oxidase Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 44 Genes + mtdna) 2-4 Weeks $1, , 81465, x2, x3, NGS356 Alzheimer Disease/Frontotemporal Dementia (NextGen Sequencing Panel and Copy Number Analysis; 40 Genes) 2-4 Weeks $1, , 81405, x2, NGS357 Parkinson's Disease/Parkinsonism (NextGen Sequencing Panel and Copy Number Analysis; 75 Genes) 2-4 Weeks $1, , 81406, NGS358 Comprehensive Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 192 Genes + mtdna) 2-4 Weeks $1, , 81465, 81479, x2, x2, NGS359 Primary Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 20 Genes) 2-4 Weeks $1, NGS360 Basal Ganglia Calcification Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 23 Genes) 2-4 Weeks $1, NGS361 OXPHOS Defect Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 43 Genes + mtdna) 2-4 Weeks $1, , 81465, NGS362 Neurodegeneration with Brain Iron Accumulation (NextGen Sequencing Panel and Copy Number Analysis; 10 Genes) 2-4 Weeks $1, NGS363 Comprehensive Cardiomyopathy (NextGen Sequencing Panel and Copy Number Analysis; 129 Genes + mtdna) 2-4 Weeks $2, , 81460, NGS364 Left Ventricular Noncompaction Cardiomyopathy Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes) 2-4 Weeks $1, , NGS365 Hereditary Cardiac Arrhythmia (NextGen Sequencing Panel and Copy Number Analysis; 60 Genes) 2-4 Weeks $1, , of 16

14 NGS366 Hereditary Ventricular Tachycardia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 28 Genes) 2-4 Weeks $1, x2, x2, 81408, NGS367 Arrhythmogenic Right Ventricular Dysplasia (NextGen Sequencing Panel and Copy Number Analysis; 10 Genes) 2-4 Weeks $1, , NGS368 Long and Short QT Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 16 Genes) 2-4 Weeks $1, , 81404, 81406, NGS369 Brugada Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 12 Genes) 2-4 Weeks $1, , NGS370 Congenital Heart Defects (NextGen Sequencing Panel and Copy Number Analysis; 101 Genes) 2-4 Weeks $1, , x3, NGS371 Congenital Central Hypoventilation Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes) 2-4 Weeks $1, , NGS372 Comprehensive Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 122 Genes + mtdna) 2-4 Weeks $2, ,81465, x2, x3, NGS373 Non-Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 53 Genes) 2-4 Weeks $1, x2, x3, NGS374 Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 44 Genes + mtdna) 2-4 Weeks $1, , 81460, NGS375 Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 Genes) 2-4 Weeks $1, , x3, NGS376 Comprehensive Dementia (NextGen Sequencing Panel and Copy Number Analysis; 95 Genes) 2-4 Weeks $1, , 81404, x2, x3 NGS377 Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 46 Genes) 2-4 Weeks $1, x2, NGS378 Marfan and Marfan-like Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 17 Genes) 2-4 Weeks $1, , NGS379 Polycystic Kidney Disease (NextGen Sequencing Panel and Copy Number Analysis; 4 Genes) 2-4 Weeks $1, NGS380 Amyloid Related Disorders (NextGen Sequencing Panel and Copy Number Analysis; 17 Genes) 2-4 Weeks $1, x2, NGS381 Mucopolysaccharidosis and Mucolipid Disorders (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes) 2-4 Weeks $1, , 81406, NGS383 Comprehensive Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 Genes + mtdna) 2-4 Weeks $1, NGS384 Carbohydrate Metabolism Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes) 2-4 Weeks $1, NGS385 Comprehensive Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 554 Genes + mtdna) 2-4 Weeks $2, , 81465, x2, x3, x1, NGS386 Epileptic Encephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 137 Genes) 2-4 Weeks $1, , 81304, x2, 81407, NGS387 Comprehensive Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 182 Genes + mtdna) 2-4 Weeks $2, , NGS388 Non-Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 98 Genes) 2-4 Weeks $1, , NGS389 Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes + mtdna) 2-4 Weeks $1, , NGS392 Bartter/Gitelman Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 8 Genes) 2-4 Weeks $1, , 81406, x2, NGS393 Maple Syrup Urine Disease (NextGen Sequencing Panel and Copy Number Analysis; 4 Genes) 2-4 Weeks $1, , x2, NGS394 Joubert Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 21 Genes) 2-4 Weeks $1, x2, NGS395 Meckel Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes) 2-4 Weeks $1, , 81408, NGS396 Porphyria Disorders (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes) 2-4 Weeks $1, NGS397 Osteogenesis Imperfecta (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes) 2-4 Weeks $1, x2, NGS398 Macrocephaly and Overgrowth Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 125 Genes) 2-4 Weeks $1, , 81304, 81405, x3, 81407, 81408, NGS399 Heterotaxy Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes) 2-4 Weeks $1, NGS400 Pain Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 16 Genes) 2-4 Weeks $1, of 16

15 NGS401 Stickler Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes) 2-4 Weeks $1, NGS402 Usher Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 12 Genes) 2-4 Weeks $1, , x2, x2 NGS404 Hypothyroidism (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes) 2-4 Weeks $1, NGS405 Amyotrophic Lateral Sclerosis (NextGen Sequencing Panel and Copy Number Analysis; 28 Genes +C9orf72 Repeat Expansion Analysis) 2-4 Weeks $1, , 81405, 81406, x2 NGS406 Alzheimer Disease/Frontotemporal Dementia (NextGen Sequencing Panel and Copy Number Analysis; 40 Genes + C9orf72 Repeat Expansion Analysis) 2-4 Weeks $2, , 81405, x2, x2 NGS407 Comprehensive Dementia (NextGen Sequencing Panel and Copy Number Analysis; 95 Genes + C9orf72 Repeat Expansion Analysis) 2-4 Weeks $2, x2, 81404, x2, x3 NGS408 Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 Genes + mtdna + HTT Repeat Expansion Analysis) 2-4 Weeks $2, NGS409 Comprehensive Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 192 Genes + mtdna + HTT Repeat Expansion Analysis) 2-4 Weeks $2, NGS410 Comprehensive Dementia (NextGen Sequencing Panel and Copy Number Analysis; 95 Genes + HTT Repeat Expansion Analysis) 2-4 Weeks $2, NGS411 Comprehensive Dementia (NextGen Sequencing Panel and Copy Number Analysis; 95 Genes + C9orf72 & HTT Repeat Expansion Analysis) 2-4 Weeks $2, , 81465, x1, x2, x2, x1, x1, 81479, , 81465, x2, x2, x2, , 81479, 81404, x2, x , x2, 81404, x2, x3 NGS412 Myoclonic Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 103 Genes) 2-4 Weeks $1, , 81404, 81406, NGS413 Congenital Myopathies (NextGen Sequencing Panel and Copy Number Analysis; 35 Genes) 2-4 Weeks $1, x2, NGS414 Noonan Syndrome (NextGen Sequencing Panel and Copy Number Analysis; 8 Genes) 2-4 Weeks $1, x3, , 81465, x1, x2, Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 Genes + mtdna + SCA & HTT Repeat Expansion NGS Weeks $2, x2, x1, x1, 81479, Analysis) x8 NGS418 Actionable Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 70 Genes) 2-4 Weeks $1, x2, x3, x1, NGS419 Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 Genes + mtdna + FRDA Repeat Expansion Analysis) 2-4 Weeks $2, NGS420 Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 Genes + mtdna + SCA & FRDA Repeat Expansion Analysis) 2-4 Weeks $2, , 81465, x1, x2, x2, x1, x1, 81479, , 81465, x1, x2, x2, x1, x1, 81479, x8 NGS421 Congenital Muscular Dystrophies (NextGen Sequencing Panel and Copy Number Analysis; 28 Genes) 2-4 Weeks $1, , 81405, x4 NGS422 Limb-Girdle Muscular Dystrophy (NextGen Sequencing Panel and Copy Number Analysis; 29 Genes) 2-4 Weeks $1, , x4, x3, NGS423 Emery-Dreifuss Muscular Dystrophy (NextGen Sequencing Panel and Copy Number Analysis; 8 Genes) 2-4 Weeks $1, , 81408, 81404, 81405, NGS424 Duchenne/Becker Muscular Dystrophy (NextGen Sequencing Panel and Copy Number Analysis; 1 Gene) 2-4 Weeks $1, , NGS425 Microcephaly (NextGen Sequencing Panel and Copy Number Analysis; 297 Genes) 2-4 Weeks $1, , 81304, 81407, NGS426 Hydrocephalus (NextGen Sequencing Panel and Copy Number Analysis; 69 Genes) 2-4 Weeks $1, x2, x2, 81407, NGS427 X-linked Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 112 Genes) 2-4 Weeks $1, , 81471, 81243, 81244, 81302, 81304, 81404, 81405, NGS428 Tuberous Sclerosis (NextGen Sequencing Panel and Copy Number Analysis; 2 Genes) 2-4 Weeks $1, , NGS429 Familial Hemiplegic Migraine (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes + mtdna) 2-4 Weeks $1, , x2, NGS430 Stroke (NextGen Sequencing Panel and Copy Number Analysis; 29 Genes + mtdna) 2-4 Weeks $1, x2, 81408, 81460, 81465, NGS431 Ataxia/Episodic Ataxia Disorders (NextGen Sequencing Panel and Copy Number Analysis; 362 Genes + mtdna + SCA Repeat Expansion Analysis) 2-4 Weeks $2, , 81465, x1, x2, x2, x1, x1, 81479, x7 15 of 16

16 NGS432 Comprehensive Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 902 Genes + Fragile X Repeat Expansion and Methylation) 2-4 Weeks $2, NGS445 Comprehensive Neuropathies (NextGen Sequencing Panel and Copy Number Analysis; 629 Genes + mtdna) 2-4 Weeks $2, , 81243, 81244, 81471, 81302, 81304, 81404, 81405, x , 81465, 81324, 81325, x3, x4, x3 NGS446 Dopa-Responsive Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes) 2-4 Weeks $1, TISSUE CULTURE TC01 Cryopreservation of Cells 7 Days $ TC03 Thaw & Expand Cells 3 Weeks $ TC04 Tissue Culture of Lymphocytes with EBV Transformation 4 Weeks $ TC05 Mycoplasma Testing of Cells 7 Days $ TC06 Tissue Culture of Skin Fibroblasts (Includes Skin Biopsy Processing) 3 Weeks $ of 16