SAMPLE REPORT. Date Collected: 04/29/2012 Date Received: 05/01/2012

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1 Inheritest Carrier Screen Patient Name: UCS, Patient10 Referring Physician: Specimen #: Patient #: DOB: 00/00/ /20/1987 Sex: Female Lab ID: Hospital ID: Specimen Type: Peripheral Blood Client #: Case #: Date Collected: 04/29/2012 Date Received: 05/01/2012 City Hospital / Genzyme City Avenue Client Ichigaya Tokyu Building 9F Anywhere, Kudan-Kita ST Chiyoda-ku, TOKYO JAPAN Ethnicity: Caucasian Indication: Carrier Test / No Family History; Family history of cystic fibrosis - brother known carrier Disease Gene Result and Interpretation Mucopolysaccharidosis Type I IDUA POSITIVE for one c.152g>a (p.g51d) mutation. This individual is predicted to be a carrier. Genetic counseling is recommended. See Additional Clinical Information. Cystic Fibrosis CFTR Negative for the mutations analyzed. This individual's risk to be a carrier is reduced from 1/2 (50%) to 1/15 (7%) based on these results, the reported family history, and Caucasian ancestry. All Other Diseases Negative for the mutations analyzed. These results reduce, but do not eliminate, the chance to be a carrier. See Carrier Screen Information Table for disease-specific details. Unless otherwise noted, all interpretations are based on a negative family history and the absence of symptoms. These results may need further interpretation depending on the clinical presentation. ADDITIONAL CLINICAL INFORMATION: Mucopolysaccharidosis Type I: Mucopolysaccharidosis type I, also known as Hurler syndrome, is an autosomal recessive disease with variable severity and age of onset. Symptoms of severe disease typically include coarsening of the facial features, hepatosplenomegaly, skeletal dysplasia, corneal clouding, cardiac disease, and intellectual disability. Treatment is primarily supportive although bone marrow/stem cell transplantation or enzyme replacement therapy may be available. (Clarke L, PubMed ID: ) Genetic counseling is recommended to discuss the potential clinical and/or reproductive implications of these results, as well as recommendations for testing family members and, when applicable, this individual's partner. If this individual's reproductive partner is also a carrier of a mutation in this gene, then the risk for an affected fetus is 25%. COMMENTS: This analysis provides carrier testing by analyzing 431 mutations associated with more than 90 diseases. Mutations are selected for relatively high frequency in the general population or in specific ethnic populations; therefore, the clinical sensitivity and specificity varies for each disease and for each ethnic group. This analysis does not rule out the presence of disease-causing mutations in other regions of the genes analyzed or in other genes, and will not detect germline mosaicism. Routine, targeted sequence analysis may identify other sequence variants as well as targeted mutations. Interpretations and risk calculations, where applicable, are based on the ethnic information and clinical and family relationships provided, as well as the current understanding of the molecular genetics of the conditions tested. References and additional disease information are available at If other carrier testing was ordered, such as spinal muscular atrophy SMN1 copy number analysis, fragile X syndrome analysis, or Tay-Sachs disease enzyme analysis, results will be reported separately. Page 1 of 8 rep-671-v2-0413

2 The standard of care for Tay-Sachs disease carrier detection in all ethnic groups is enzyme (hexosamindase A) analysis. For maximum sensitivity and specificity, enzyme analysis should be performed in addition to DNA mutation analysis. The standard of care for determining carrier status for sickle cell disease and other hemoglobinopathies is hemoglobin electrophoresis and CBC. METHOD/LIMITATIONS: Isolated DNA is amplified by whole genome amplification. Mutation analysis is performed by array-based hybridization and allele-specific primer extension using a custom Illumina Infinium(TM) array (IG v1.1). Confirmation of mutation identity is achieved by targeted DNA sequencing. Sequencing results are reported using the numbering and nomenclature recommended by the Human Genome Variation Society (HGVS, False positive or negative results may occur for reasons that include: genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous representation of family relationships. Adenosine Deaminase Deficiency (ADA) NM_ : c.320t>c (p.l107p), c.632g>a (p.r211h), c.646g>a (p.g216r), c.956_960delaagag (p.e319fs), c.986c>t (p.a329v) Alpha-Mannosidosis (MAN2B1) NM_ : c.2248c>t (p.r750w) Andermann Syndrome (SLC12A6) NM_ : c.2436delg (p.t813fs) Argininosuccinic Aciduria, also known as Argininosuccinic Acid Lyase Deficiency (ASL) NM_ : c.346c>t (p.q116*), c.446+1g>a, c.532g>a (p.v178m) Aspartylglucosaminuria (AGA) NM_ : c.214t>c (p.s72p), c.[482g>a; 488G>C] (p.[r161q; C163S]) Ataxia-Telangiectasia (ATM) NM_ : c.103c>t (p.r35*), c.1564_1565delga (p.e522fs), c.3245_3247delatcinstgat (p.h1082fs), c.3576g>a (p.s1135_k1192del58), c.5712dupa (p.s1905fs), c.5908c>t (p.q1970*), c.5932g>t (p.e1978*), c.7517_7520delgaga (p.r2506fs), c.7638_7646deltagaatttc (p.r2547_s2549delris) Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS) NM_ : c.7504c>t (p.r2502*), c.8844delt (p.i2949fs) Bardet-Biedl Syndrome, BBS1-Related (BBS1) NM_ : c.1169t>g (p.m390r) Bardet-Biedl Syndrome, BBS10-Related (BBS10) NM_ : c.271dupt (p.c91fs) Beta Hemoglobinopathy, Beta Thalassemia (HBB) NM_ : c.-140c>t, c.-138c>t, c.-137c>g, c.-81a>g, c.-80t>a, c.- 79A>G, c.-78a>c, c.-78a>g, c.1a>g (p.m1v), c.2t>g (p.m1r), c.17_18delct (p.p6fs), c.20dela (p.e7fs), c.25_26delaa (p.k9fs), c.27dupg (p.s10fs), c.36delt (p.t13fs), c.45dupg (p.w16fs), c.46delt (p.w16fs), c.48g>a (p.w16*), c.51delc (p.k18fs), c.52a>t (p.k18*), c.59a>g (p.n20s), c.75t>a (p.=(no change at G25)), c.79g>t (p.e27*), c.85dupc (p.l29fs), c.90c>t (p.= (no change at G30)), c.92g>c (p.r31t), c.92+1g>a, c.92+1g>t, c.92+2t>a, c.92+2t>c, c.92+5g>c, c.92+6t>c, c.93-21g>a, c.112delt (p.w38fs), c.114g>a (p.w38*), c.118c>t (p.q40*), c.126_129delcttt (p.f42fs), c.135delc (p.f46fs), c.155delc (p.p52fs), c.203_204deltg (p.v68fs), c.217dupa (p.s73fs), c.271g>t (p.e91*), c.287dupa (p.l97fs), c.315+1g>a, c c>t, c c>g, c.316-3c>a, c.316-2a>c, c.316-2a>g, c.316-1g>t, c.383_385delagg (p.q128_a129delqainsp), c.*113a>g, c _*209del619 Beta Hemoglobinopathy, Sickle Cell Disease (HBB) NM_ : c.20a>t (p.e7v) General 42% 1 in in 497 Caucasian 23% 1 in in 454 French Canadian 99% 1 in 23 1 in 2200 General 31% 1 in in 190 Finnish 98% 1 in 81 1 in 4000 Amish 99% Unknown Costa Rican 56% 1 in in 226 General 16% 1 in in 118 North African Jewish 97% 1 in 81 1 in 2667 Norwegian 55% 1 in in 436 French Canadian 96% 1 in 21 1 in 500 General 55% 1 in in 865 General 45% 1 in in 759 African American 90% 1 in 75 1 in 741 East Asian 93% 1 in 50 1 in 700 Mediterranean 97% 1 in 20 1 in 634 Middle Eastern 84% 1 in 30 1 in 182 South Asian 95% 1 in 20 1 in 381 Southeast Asian 90% 1 in 30 1 in 291 African American >99% 1 in 14 Negligible Hispanic >99% 1 in 183 Negligible Page 2 of 8

3 Beta Hemoglobinopathy, Sickle Cell Disease (HBB) NM_ : c.20a>t (p.e7v) Beta Hemoglobinopathies, Hemoglobins C, D, E, and O (HBB) NM_ : c.19g>a (p.e7k), c.79g>a (p.e27k), c.364g>a (p.e122k), c.364g>c (p.e122q) Bloom Syndrome (BLM) NM_ : c.2207_2212del6instagattc (p.y736fs) Canavan Disease (ASPA) NM_ : c.433-2a>g, c.693c>a (p.y231*), c.854a>c (p.e285a), c.914c>a (p.a305e) Cartilage-Hair Hypoplasia (RMRP) NG_ : r.71a>g Citrullinemia Type I (ASS1) NM_ : c.421-2a>g, c.1168g>a (p.g390r) Cobalamin C Disease (MMACHC) NM_ : c.271dupa (p.r91fs), c.331c>t (p.r111*), c.394c>t (p.r132*) Congenital Disorder of Glycosylation Type 1a (PMM2) NM_ : c.338c>t (p.p113l), c.357c>a (p.f119l), c.422g>a (p.r141h), c.470t>c (p.f157s), c.691g>a (p.v231m) Congenital Finnish Nephrosis: See Nephrotic Syndrome, NPHS1-Related (NPHS1) Cystic Fibrosis (CFTR) NG_ : c _ del21kb (p.s18fs), c.178g>t (p.e60*), c.223c>t (p.r75*), c.254g>a (p.g85e), c.262_263deltt (p.l88fs), c.273+1g>a, c.273+3a>c, c.274-1g>a, c.274g>t (p.e92*), c.313dela (p.i105fs), c.325_327deltatinsg (p.y109fs), c.349c>t (p.r117c), c.350g>a (p.r117h), c.366t>a (p.y122*), c.442dela (p.i148fs), c.489+1g>t, c.531delt (p.i177fs), c.532g>a (p.g178r), c.579+1g>t, c.579+5g>a, c.580-1g>t, c.617t>g (p.l206w), c.803dela (p.n268fs), c.805_806delat (p.i269fs), c.935_937deltct (p.f312del), c.948delt (p.f316fs), c.988g>t (p.g330*), c.1000c>t (p.r334w), c.1013c>t (p.t338i), c.1040g>a (p.r347h), c.1040g>c (p.r347p), c.1055g>a (p.r352q), c.[1075c>a; 1079C>A] (p. [Q359K; T360K]), c.1090t>c (p.s364p), c.1364c>a (p.a455e), c.1438g>t (p.g480c), c.1477c>t (p.q493*), c.1519_1521delatc (p.i507del), c.1521_1523delctt (p.f508del), c.1545_1546delta (p.y515*), c.1558g>t (p.v520f), c.1572c>a (p.c524*), c g>a, c.1624g>t (p.g542*), c.1646g>a (p.s549n), c.1647t>g (p.s549r ), c.1652g>a (p.g551d), c.1654c>t (p.q552*), c.1657c>t (p.r553*), c.1675g>a (p.a559t), c.1679g>c (p.r560t), c g>a, c.1721c>a (p.p574h), c g>a, c g>t, c.1820_1903del84 (p.m607_q634del), c.1911delg (p.q637fs), c.1923_1931del9insa (p.s641fs), c.1973_1985del13insagaaa (p.r658fs), c.1976dela (p.n659fs), c.2051_2052delaainsg (p.k684fs), c.2052dela (p.k684fs), c.2052dupa (p.q685fs), c.2125c>t (p.r709*), c.2128a>t (p.k710*), c.2175dupa (p.e726fs), c.2290c>t (p.r764*), c g>a, c.2668c>t (p.q890*), c.2737_2738insg (p.y913*), c.2988g>a (p.=(no change at Q996)), c g>a, c.3039delc (p.y1014fs), c.3067_3072delatagtg (p.i1023_v1024del), c.3196c>t (p.r1066c), c.3266g>a (p.w1089*), c.3276c>a (p.y1092*), c.3276c>g (p.y1092*), c.3302t>a (p.m1101k), c.3454g>c (p.d1152h), c.3472c>t (p.r1158*), c.3484c>t (p.r1162*), c.3528delc (p.k1177fs), c.3536_3539delccaa (p.t1179fs), c.3587c>g (p.s1196*), c.3612g>a (p.w1204*), c.3659delc (p.t1220fs), c.3712c>t (p.q1238*), c c>t, c.3744dela (p.k1250fs), c.3752g>a (p.s1251n), c.3764c>a (p.s1255*), c.3773dupt (p.l1258fs), c.3846g>a (p.w1282*), c.3909c>g (p.n1303k) Middle Eastern >99% 1 in 360 Negligible Native American >99% 1 in 176 Negligible African American >99% 1 in 46 Negligible Asian >99% 1 in 119 Negligible Asian Indian >99% 1 in 68 Negligible Middle Eastern >99% 1 in 255 Negligible Native American >99% 1 in 292 Negligible Southeast Asian >99% 1 in 15 Negligible Ashkenazi Jewish 97% 1 in in 4434 Ashkenazi Jewish 98% 1 in 55 1 in 2700 Caucasian 50% Unknown Amish 91% 1 in 19 1 in 200 Finnish 92% 1 in 76 1 in 938 General 48% Unknown General 20% 1 in in 148 Japanese 49% Unknown General 58% Unknown Caucasian 70% 1 in 71* 1 in 234 African American 81% 1 in 61 1 in 316 Ashkenazi Jewish 97% 1 in 24 1 in 767 Asian American 49-55% 1 in 94 <1 in 183 Caucasian 93% 1 in 25 1 in 343 Hispanic 77% 1 in 58 1 in 248 Page 3 of 8

4 Cystinosis (CTNS) NM_ : c.-39kb_848del57kb, c.198_218del21 (p.i67_p73del7), c.413g>a (p.w138*) D-Bifunctional Protein Deficiency (HSD17B4) NM_ : c.46g>a (p.g16s), c.1369a>t (p.n457y) Dihydrolipoamide Dehydrogenase Deficiency (DLD) NM_ : c.104dupa (p.y35*), c.685g>t (p.g229c) Dihydropyrimidine Dehydrogenase Deficiency (DPYD) NM_ : c g>a Ethylmalonic Encephalopathy (ETHE1) NM_ : c.487c>t (p.r163w), c.488g>a (p.r163q), c.505+1g>t Familial Dysautonomia (IKBKAP) NM_ : c.2087g>c (p.r696p), c t>c Familial Hyperinsulinism, ABCC8-Related (ABCC8) NM_ : c g>a, c.4160_4162deltct (p.f1387del) Familial Mediterranean Fever (MEFV) NM_ : c.2040g>a (p.m680i), c.2040g>c (p.m680i), c.2080a>g (p.m694v), c.2082g>a (p.m694i), c.2177t>c (p.v726a) Fanconi Anemia Group C (FANCC) NM_ : c.67delg (p.d23fs), c.456+4a>t Galactosemia, GALT-Related (GALT) NM_ : c.[-1039_753del3162; _*789del2294ins12], c.253-2a>g, c.404c>t (p.s135l), c.413c>t (p.t138m), c.563a>g (p.q188r), c.584t>c (p.l195p), c.626a>g (p.y209c), c.855g>t (p.k285n) Gaucher Disease (GBA) NM_ : c.84dupg (p.l29fs), c.115+1g>a, c.1226a>g (p.n409s), c.1297g>t (p.v433l), c.1342g>c (p.d448h), c.1448t>c (p.l483p), c.1604g>a (p.r535h) Glutaric Acidemia Type 1 (GCDH) NM_ : c.1204c>t (p.r402w), c.1262c>t (p.a421v) Glutathione Synthetase Deficiency (GSS) NM_ : c.-9+5g>a, c a>g, c.847c>t (p.r283c) Glycine Encephalopathy, GLDC-Related (GLDC) NM_ : c.1545g>c (p.r515s), c.1691g>t (p.s564i) Glycogen Storage Disease Type Ia (G6PC) NM_ : c.79delc (p.q27fs), c.247c>t (p.r83c), c.248g>a (p.r83h), c.379_380dupta (p.y128fs), c.562g>c (p.g188r), c.648g>t (p.=(no change at L216)), c.724c>t (p.q242*), c.980_982deltct (p.f327del), c.1039c>t (p.q347*) Glycogen Storage Disease Type Ib (SLC37A4) NM_ : c.352t>c (p.w118r), c.1015g>t (p.g339c), c.1042_1043delct (p.l348fs) Glycogen Storage Disease Type II: See Pompe Disease (GAA) Glycogen Storage Disease Type IIIa (AGL) NM_ : c.1222c>t (p.r408*), c.1384delg (p.v462*), c g>a, c.2590c>t (p.r864*), c g>a, c.3682c>t (p.r1228*), c.3965delt (p.v1322fs), c.3980g>a (p.w1327*), c a>g, c.4456delt (p.s1486fs) French Canadian 70% 1 in 39 1 in 127 General 61% 1 in in 403 General 35% Unknown Ashkenazi Jewish >95% 1 in 107 <1 in 2121 Northern European Caucasian 71% Unknown Mediterranean/Arab 30% Unknown Ashkenazi Jewish >99% 1 in 31 <1 in 3000 Ashkenazi Jewish 97% 1 in 52 1 in 1700 Arab 71% 1 in 5 1 in 14 Armenian 78% 1 in 5 1 in 19 Ashkenazi Jewish 69% 1 in 81^ 1 in 259 North African Jewish 94% 1 in 7 1 in 100 Turkish 74% 1 in 5 1 in 16 Ashkenazi Jewish 99% 1 in in 9900 African American 65% 1 in 78 1 in 221 Ashkenazi Jewish 88% >1 in 127 >1 in 1050 Caucasian 81% 1 in in 564 Ashkenazi Jewish 98% 1 in 15 1 in 700 General 69% Unknown Amish 94% 1 in 9* 1 in 134 German 47% 1 in in 297 General 30% Unknown Finnish 70% 1 in in 387 Ashkenazi Jewish 99% 1 in 64 1 in 6300 Caucasian 69% 1 in in 568 Chinese 76% 1 in in 734 Japanese 90% 1 in in 1761 Caucasian 46% 1 in in 654 Japanese 42% 1 in in 609 Caucasian 40% Unknown Faroese 99% 1 in 30 1 in 2900 North African Jewish 99% 1 in 37 1 in 3600 Page 4 of 8

5 Glycogen Storage Disease Type IIIb (AGL) NM_ : c.16c>t (p.q6*), c.18_19delga (p.q6fs) GRACILE Syndrome (BCS1L) NM_ : c.232a>g (p.s78g) Hereditary Fructose Intolerance (ALDOB) NM_ : c.448g>c (p.a150p), c.524c>a (p.a175d), c.1005c>g (p.n335k) HMG-CoA Lyase Deficiency (HMGCL) NM_ : c.109g>t (p.e37*), c.122g>a (p.r41q) Holocarboxylase Synthetase Deficiency (HLCS) NM_ : c.1522c>t (p.r508w), c.1648g>a (p.v550m) Homocystinuria, CBS-Related (CBS) NM_ : c.572c>t (p.t191m), c.833t>c (p.i278t), c.919g>a (p.g307s) Hurler Syndrome: See Mucopolysaccharidosis Type I (IDUA) Caucasian 99% Unknown Finnish 99% 1 in in 10,900 General 75% 1 in 71 1 in 281 Saudi Arabian 86% Unknown Spanish/Portuguese 85% Unknown General 38% <1 in 158 <1 in 254 General 26% 1 in in 306 Irish 71% 1 in in 435 Spanish 52% 1 in 250* 1 in 519 Hyperoxaluria Type 1: See Primary Hyperoxaluria Type 1 (AGXT) Hyperoxaluria Type 2: See Primary Hyperoxaluria Type 2 (GRHPR) Joubert Syndrome 2 (TMEM216) NM_ : c.218g>t (p.r73l) Junctional Epidermolysis Bullosa, LAMA3-Related (LAMA3) NM_ : c.1981c>t (p.r661*) Junctional Epidermolysis Bullosa, LAMB3-Related (LAMB3) NM_ : c.124c>t (p.r42*), c.727c>t (p.q243*), c.958_1034dup77 (p.n345fs), c.1903c>t (p.r635*) Junctional Epidermolysis Bullosa, LAMC2-Related (LAMC2) NM_ : c.283c>t (p.r95*) Krabbe Disease (GALC) NM_ : c.[246a>g; 913A>G] (p.[i82m; I305V]), c.683_694del12insctc (p.n228_s232del5instp), c.857g>a (p.g286d), c _*9573del32kb, c.1472dela (p.k491fs), c.1586c>t (p.t529m), c.1700a>c (p.y567s), c.2002a>c (p.t668p) LCHAD Deficiency (HADHA) NM_ : c.1528g>c (p.e510q) Leigh Syndrome, French-Canadian Type (LRPPRC) NM_ : c.1061c>t (p.a354v) Maple Syrup Urine Disease Type 1A (BCKDHA) NM_ : c.1312t>a (p.y438n) Maple Syrup Urine Disease Type 1B (BCKDHB) NM_ : c.548g>c (p.r183p), c.832g>a (p.g278s), c.1114g>t (p.e372*) Maple Syrup Urine Disease Type 3: See Dihydrolipoamide Dehydrogenase Deficiency (DLD) MCAD Deficiency (ACADM) NM_ : c.985a>g (p.k329e) Ashkenazi Jewish 99% 1 in 92 1 in 9100 Pakistani 99% (Herlitz type) Unknown General 55% 1 in in 927 Italian 22% <1 in 375 <1 in 480 Italian 29% <1 in 425 <1 in 598 Caucasian 60% 1 in in 393 Japanese 57% Unknown Dutch 87% 1 in 158* 1 in 1208 General 71% 1 in in 473 French Canadian 98% 1 in 23 1 in 1100 General 11% 1 in in 360 Mennonite 99% 1 in 13 1 in 1200 Ashkenazi Jewish 95% 1 in 97 1 in 1921 General 79% 1 in 63 1 in 296 Page 5 of 8

6 Metachromatic Leukodystrophy (ARSA) NM_ : c.302g>a (p.g101d), c.465+1g>a, c.542t>g (p.i181s), c.769g>c (p.d257h), c g>a, c.1232c>t (p.t411i), c.1283c>t (p.p428l) Methylmalonic Acidemia, MMAA-Related (MMAA) NM_ : c.433c>t (p.r145*) Methylmalonic Acidemia, MMAB-Related (MMAB) NM_ : c.556c>t (p.r186w) Methylmalonic Acidemia, MUT-Related (MUT) NM_ : c.322c>t (p.r108c), c.655a>t (p.n219y), c.1106g>a (p.r369h), c.2150g>t (p.g717v) Methylmalonic Aciduria and Homocystinuria Type cblc: See Cobalamin C Disease (MMACHC) Mucolipidosis Type IV (MCOLN1) NM_ : c.-1015_788del6433, c.406-2a>g Mucopolysaccharidosis Type I (IDUA) NM_ : c.152g>a (p.g51d), c.208c>t (p.q70*), c.266g>a (p.r89q), c.613_617duptgctc (p.e207fs), c.979g>c (p.a327p), c.1037t>g (p.l346r), c.1205g>a (p.w402*), c.1598c>g (p.p533r) Nemaline Myopathy, NEB-Related (NEB) NM_ : c _ del2502bp (p.r2478_d2512del35) Nephrotic Syndrome, NPHS1-Related (NPHS1) NM_ : c.121_122delct (p.l41fs), c g>a, c.3325c>t (p.r1109*), c.3478c>t (p.r1160*) Nephrotic Syndrome, NPHS2-Related (NPHS2) NM_ : c.353c>t (p.p118l), c.413g>a (p.r138q), c.467dupt (p.l156fs), c.851c>t (p.a284v), c.868g>a (p.v290m), c.948delt (p.a317l) Neuronal Ceroid-Lipofuscinosis, CLN3-Related (CLN3) NM_ : c _ del966 (p.g154fs) Neuronal Ceroid-Lipofuscinosis, CLN5-Related (CLN5) NM_ : c.225g>a (p.w75*), c.1175_1176delat (p.y392*) Neuronal Ceroid-Lipofuscinosis, CLN8-Related (CLN8) NM_ : c.70c>g (p.r24g) Neuronal Ceroid-Lipofuscinosis, PPT1-Related (PPT1) NM_ : c.223a>c (p.t75p), c.364a>t (p.r122w), c.451c>t (p.r151*) Neuronal Ceroid-Lipofuscinosis, TPP1-Related (TPP1) NM_ : c.509-1g>c, c.622c>t (p.r208*) Niemann-Pick Disease Type A (SMPD1) NM_ : c.911t>c (p.l304p), c.996delc (p.f333fs), c.1493g>t (p.r498l) Niemann-Pick Disease Type B (SMPD1) NM_ : c.1828_1830delcgc (p.r610del) Niemann-Pick Disease Type C, NPC1-Related (NPC1) NM_ : c.3182t>c (p.i1061t) Niemann-Pick Disease Type C, NPC2-Related (NPC2) NM_ : c.58g>t (p.e20*) Caucasian 56% 1 in in 319 Japanese 50% 1 in in 263 Caucasian 42% 1 in in 516 Caucasian 33% 1 in in 648 African American 35% 1 in in 299 Caucasian 28% 1 in in 270 Hispanic 41% 1 in in 329 Ashkenazi Jewish 96% 1 in 89 1 in 2200 Caucasian 60% 1 in in 393 Japanese 42% 1 in in 271 Scandanavian 79% 1 in in 748 Ashkenazi Jewish >95% 1 in 168 <1 in 3341 Finnish 94% 1 in 45 1 in 734 Maltese 99% 1 in 22 1 in 2100 General 60% Unknown General 85% 1 in in 1527 Finnish 99% (Finnish variant) Finnish 99% (northern epilepsy variant) 1 in in 11,400 1 in in 13,400 Finnish 98% 1 in 67 1 in 3300 General 57% 1 in in 1114 General 53% 1 in in 530 Ashkenazi Jewish 97% 1 in in 3834 Ashkenazi Jewish 50% Unknown Brazilian 20% Unknown North African 87% Unknown General 20% 1 in in 228 General 56% 1 in in 1966 Page 6 of 8

7 Nijmegen Breakage Syndrome (NBN) NM_ : c.657_661delacaaa (p.k219fs), c.1089c>a (p.y363*) Non-Ketotic Hyperglycinemia, GLDC-Related: See Glycine Encephalopathy, GLDC-Related (GLDC) Phenylalanine Hydroxylase Deficiency, includes Phenylketonuria (PAH) NM_ : c.117c>g (p.f39l), c.143t>c (p.l48s), c.194t>c (p.i65t), c.473g>a (p.r158q), c.782g>a (p.r261q), c.838g>a (p.e280k), c.842c>t (p.p281l), c.896t>g (p.f299c), c g>a, c.1222c>t (p.r408w), c.1241a>g (p.y414c), c g>a Polycystic Kidney Disease, Autosomal Recessive (PKHD1) NM_ : c.107c>t (p.t36m), c.1486c>t (p.r496*), c.5895dupa (p.l1966fs), c.5896dupc (p.l1966fs), c.8870t>c (p.i2957t), c.9689dela (p.d3230fs), c.10174c>t (p.q3392*), c.10412t>g (p.v3471g) Pompe Disease (GAA) NM_ : c t>g, c.525delt (p.e176fs), c.1935c>a (p.d645e), c _ del538 (p.g828_n882del55), c.2560c>t (p.r854*) Primary Hyperoxaluria Type 1 (AGXT) NM_ : c.454t>a (p.f152i), c.508g>a (p.g170r), c.731t>c (p.i244t) Primary Hyperoxaluria Type 2 (GRHPR) NM_ : c.103delg (p.d35fs), c.404+3_404+6delaagt Propionic Acidemia, PCCA-Related (PCCA) NM_ : c.[1196g>a; 1676G>T] (p.[r399q; W559L]) Propionic Acidemia, PCCB-Related (PCCB) NM_ : c.502g>a (p.e168k), c.1173dupt (p.v392fs), c.1218_1231del14instagagcacagga (p.g407fs), c.1228c>t (p.r410w), c.1283c>t (p.t428i) Rhizomelic Chondrodysplasia Punctata Type 1 (PEX7) NM_ : c.649g>a (p.g217r), c.653c>t (p.a218v), c.875t>a (p.l292*), c.903+1g>c Salla Disease (SLC17A5) NM_ : c.115c>t (p.r39c) Sandhoff Disease (HEXB) NM_ : c.850c>t (p.r284*) Sickle Cell Disease: See Beta Hemoglobinopathy, Sickle Cell Disease (HBB) Sjogren-Larsson Syndrome (ALDH3A2) NM_ : c.943c>t (p.p315s), c.1297_1298delga (p.e433fs) Smith-Lemli-Opitz Syndrome (DHCR7) NM_ : c.278c>t (p.t93m), c.452g>a (p.w151*), c.506c>t (p.s169l), c.724c>t (p.r242c), c.725g>a (p.r242h), c.906c>g (p.f302l), c.964-1g>c, c.976g>t (p.v326l), c.1054c>t (p.r352w), c.1210c>t (p.r404c), c.1228g>a (p.g410s), c.1342g>a (p.e448k) Sulfate Transporter-Related Osteochondrodysplasias, includes Achondrogenesis Type 1B, Atelosteogenesis Type 2, Diastrophic Dysplasia, and Recessive Multiple Epiphyseal Dysplasia (SLC26A2) NM_ : c.-26+2t>c, c.532c>t (p.r178*), c.835c>t (p.r279w), c.1020_1022deltgt (p.v341del), c.1957t>a (p.c653s) Eastern European Slavic 99% 1 in in 17,600 Caucasian 57% 1 in 50 1 in 114 Irish 69% 1 in 33 1 in 104 Turkish 55% 1 in 26 1 in 56 Finnish 79% 1 in 70 1 in 329 General 14% 1 in 70 1 in 81 African American 43% 1 in 60 1in 104 Chinese 80% 1 in in 556 Dutch 64% 1 in in 276 General 46% 1 in in 534 Asian 50% Unknown Caucasian 58% Unknown Japanese 17% <1 in 65 <1 in 78 Caucasian 32% <1 in 112 <1 in 164 Japanese 57% <1 in 65 <1 in 149 Latin American 77% <1 in 112 <1 in 483 Spanish 68% <1 in 112 <1 in 347 General 72% 1 in 158* 1 in 561 Finnish 96% 1 in in 4976 Italian 29% Unknown Caucasian 36% 1 in 250* 1 in 390 Swedish 87% 1 in in 1531 General 69% 1 in 71 1 in 226 Finnish 96% 1 in 50 1 in 1226 General 70% 1 in in 524 Page 7 of 8

8 Tay-Sachs Disease (HEXA) NM_ : c.-2564_ del7945insg, c g>c, c.1274_1277duptatc (p.y427fs), c g>a, c.805+1g>a, c.805g>a (p.g269s), c.745c>t (p.r249w), c.739c>t (p.r247w) Tyrosinemia Type 1 (FAH) NM_ : c.554-1g>t, c.698a>t (p.d233v), c.782c>t (p.p261l), c.786g>a (p.w262*), c g>a Usher Syndrome Type IF (PCDH15) NM_ : c.733c>t (p.r245*) Usher Syndrome Type III (CLRN1) NM_ : c.144t>g (p.n48k) Walker-Warburg Syndrome, FKTN-Related (FKTN) NM_ : c.1167dupa (p.f390fs) Wilson Disease (ATP7B) NM_ : c.2333g>t (p.r778l), c.3207c>a (p.h1069q), c.3402delc (p.a1135fs) Zellweger Syndrome Spectrum, PEX1-Related, includes Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, and Zellweger Syndrome (PEX1) NM_ : c.2097dupt (p.i700fs), c.2528g>a (p.g843d), c.2916dela (p.g973fs) Ashkenazi Jewish 98%** 1 in 27** 1 in 1300 General 46%** 1 in 300** 1 in 554 US French Canadian 47%** 1 in 73** 1 in 136 Ashkenazi Jewish 99% 1 in in 15,700 Finnish 95% 1 in in 2421 French Canadian 95% 1 in 56 1 in 1100 General 50% 1 in in 315 Ashkenazi Jewish >75% 1 in 147 <1 in 585 Ashkenazi Jewish 98% 1 in in 5951 Ashkenazi Jewish 99% 1 in 79 1 in 7800 Caucasian 36% 1 in 90 1 in 140 Chinese 39% 1 in 50 1 in 81 Japanese 18% 1 in 50 1 in 60 General 67% 1 in in 404 * Incidence figures unavailable. Carrier frequency approximated from prevalence. ** Excludes pseudodeficiency alleles. ^ The carrier frequency in healthy Ashkenazi Jewish individuals has been reported to be as high as 1 in 5. However, based on the observed incidence of disease, the carrier frequency corresponds to 1 in 81. This test was developed and its performance characteristics determined by Esoterix Genetic Laboratories, LLC. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Results of this test are for investigational purposes only. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically diagnostic product or procedure. Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, a wholly-owned subsidiary of Laboratory Corporation of America Holdings. Inheritest is a service mark of Laboratory Corporation of America Holdings. Page 8 of 8