Preparent Standard Panel

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1 Preparent Standard Panel Disorder Gene Variants Ethnicity Alpha-thalassemia HBA1 HBA2 -alpha3.7, -alpha4.2, -alpha20.5, --SEA, --MED, --FIL, --THAI Mediterranean 1 in 20 1 in in 291 African American 1 in in 4,991 Beta-thalassemia HBB 118C>T, 126_129delCTTT, 135delC, -138C>T, 22_24delGAG, 25_26delAA, 27dupG, 315+1G>A, 316-2A>C, 316-2A>G, 47G>A, 51delC, 52A>T, 59A>G, 75T>A, -78A>G/-28A>G, -79A>G/-29A>G, 93-1G>A, 93-21G>A Mediterranean South Southeast East 1 in 20 1 in 20 1 in 50 80% 29% 69% 71% 74% 1 in 96 1 in 28 1 in 95 1 in 112 African American 1 in 50 1 in 75 1 in 80 37% 85% 80% 1 in 79 1 in in 396 Bloom syndrome BLM 2281Del6/Ins7, 2407dupT Ashkenazi Jewish 1 in in 9,901 Canavan disease ASPA IVS2-2A>G, p.a305e, p.e285a, p.y231x, p.y288c Ashkenazi Jewish 1 in 41 98% 1 in 2,001 1 in % 1 in 328 Congenital amegakaryocytic thrombocytopenia MPL IVS1+2T>A Ashkenazi Jewish 1 in 75 1 in 7,401 Cystic fibrosis (600 mutations) CFTR R347P; Y122X; 852del22; S549R; S1255X; L1077P; G->A; G->A; 711+1G->T; G>A; 4016insT; Q1313X; 4209TGTT>AA; 4382delA; 2143delT; L1065P; R1066C; R1066H; R117C; L467P; 1548delG; S489X; S492F; 3821delT; Q179K; M1101K; E1104X; Y1092X; R117H; PolyT 5T/7T/9T; 574delA; 663delT; G178R; 711+3A>G; 711+5G>A; 712-1G>T; H199Y; P205S; L206W; Q220X; R334W; 935delA; A455E; 1078delT; G330X; I336K; T338I; S341P; 1154insTC; R347H; R352Q; 1213delT; G>A; 1259insA; W401X; W401X; G>A; 1461ins4; G>A; F508C; 1677delTA; V520F; G542X; 621+1G->T; [delta]f311; [delta]f508; S466X; G551D; G->A; R553X; R560T; S549N; Q552X; S549R; A559T; R560K; kbA->G; G->A; Y569D; I507V; E585X; G->C; A>G; 2184delA; 2184insA; R709X; K710X; 2307insA; L732X; 2347delG; G>A; R764X; 2585delT; E822X; G>A; E831X; W846X; R851X; 2711delT; Q890X; L927P; S945L; 3007delG; G970R; 3120G>A; Ashkenazi Jewish African American 1 in 24 1 in 25 1 in 58 1 in 61 1 in % 82% 56% -- 1 in 2,301 1 in in in in S. State Road, Ann Arbor, MI Tel Fax progenity.com Page 1 of 8

2 3121-1G->A; 3171delC; 3199del6; G->A; A->G; 394delTT ; D1152H; R1158X; R1162X; 3659delC; W1282X; S1196X; 3791delC; N1303K; N1303K; W1204X; W1204X; S1255X; G1244E; 3876delA; S1251N; 3905insT; kbC->T; CFTRdele22.23; 444delA; 457TAT->G; S466X; Y1092X; [delta]i507; 2183delAA>G; M1V; G85E; Q39X; 406-1G->A; E60X; P67L; R75X; 405+1G>A; E92X; E92K; Q98X; D110H; W1089X; CFTRdele2.3; 1949del84; Q493X; G->A; I506V(1648A/G); G->T; W361X; 681delC; 1367delC; 1367del5; 1460delAT; 1471delA; 1353_1354insT; 1504delG; 1540del10; 1565 del CA; 1571delG; 1576insT; 1469delT; 1601delTC; 1660delG; 1742delAC; 1749insTA; 1774delCT; Y325X; R792X; L558X; G1003X; Y161X; 412del7- >TA; H1054D; G1061R; 3532AC- >GTA; F1074L; Y28X; R29X; E33X; 3960_3961delA; L34X; S35X; S35X; K114X; W277X; G404X; W882X; S912X; S1206X(C>A); S1206X (C>G); L1254X; W1274X; Q1281X; Q1291X; Y1307X; E1308X; W1310X; W1316X; E1371X; R532X; E535X; M1L; K536X; A46D; 297-1G>A; G551S; E543X; G545X; R555X; L558X; Y563X; K564X; L90X; L94X; L101X; G366X; K370X; L375X; Q376X; K377X; Q378X; Y380X; K381X; L383X; E384X; Y385X; Y385X; L387X; L387X; E391X; E395X; E402X; E403X; E407X; L408X; L408X; E410X; K411X; K447X; E449X; R450X; G451X; Q452X; L453X; L454X; G458X; G461X; G473X; E476X; S478X; S478X; K481X; K483X; R487X; C491X; K503X; Y512X; E514X; R516X; 547insTA; 556delA ; 557delT; 565delC; 605insT; 657delA; K442X; 1782delA; Q353X; 2948AT- >C; 3079delTT; 3293delA; 3126del4; 3132delTG; 3171insC; 3173delAC; 3200_3204delTAGTG; 3238delA; 3180delA; 3320ins5; 3359delCT; 3263dupA; 3396delC; 3419delT; 3423delC; 3425delG; 3447delG; 3855delC; 3577delT; 3617delGA; 3622insT; 3629delT; 3662delA; 3667ins4; 3670delA; 3724delG; 3737delA; 3750delAG; 3755delG; 3789insA; 3708delT; 3878delG; 3898insC; 3906insG; 3944delGT; 3835_3836delTT; 4006delA; 4010del4; 4015delA; 4022insT; 3908dupA; 4040delA; 4048insCC; 4089ins4; 4203TAG->AA; 4218insT; Q2X (together with R3W); S4X; E7X; K14X; G27X; Q30X; Y38X; W57X(TAG); W57X(TGA); W79X; L88X(T- >A); L88X(T- >G); L101X; G103X; Y109X; L127X; L159X; E193X; Q207X; W216X; L218X; C225X; 717delG; Y247X; 825C>G; Q290X; Y304X; L320X; W356X; 1086T>A; 1114C>T; E379X; Q414X; S434X; E479X; G486X; E504X; G550X; L568X; 5230 S. State Road, Ann Arbor, MI Tel Fax progenity.com Page 2 of 8

3 Y569X; G576X; Q634X; S776X; Q781X; R785X; Q637X; E656X; E664X; G673X; W679X; Q685X; K688X; Q814X; E823X; E1418X; 360delT; 234delC; insT; 264_268delATATT ; Y913X; K946X; K978X; L1059X; W1063X; Q1071X; M1T; S1255P; G1349D; 435insA; 441delA; 451del8; 458delAT; 460delG; 489delC; 519delT; 525delT; 405_406dupAC; 541del4; 541delC; 546insCTA; 547insGA; 675del4; 1497delGG; 2406delCC; 2409delC; 2456delAC; 2512delG; 2522insC; 2556insAT; 2566insT; 2876delC; 3028delA; 3041delG; 3056delGA; 3732delA; E827X; K830X; E474X; W846X (2670TGG>TGA); Y849X; E51X; R104X; 733delG; 650_659delAGTTGTTACA ; 714delT; 874Ins TACA; 905delG; insA; 991del5; 1013delAA; 1058delC; 1112delT ; 1119delA; 1138insG; 1150delA; 1161insG; 1161delC; M1K; 1215delG; 1111dupA; 1283delA; 1289insTA; 1291delTT; T388X; 1309delG; 1227delT; 1366delG; K52X; E54X; E56X; C276X; R59X; S63X; K64X; K65X; K68X; C76X; W79X; R80X; Y84X; G85X; Y89X; L90X; 1086T>G; L219X; E267X; 2044delA; E286X; S341X; R1128X; K413X; C831X; L571X; Y577X; Y577X; L581X; L581X; E588X; E838X; 1199delG; L320X; 1323insA; L570X; L570X; 1813insC; L571X; K857X; L859X; L859X; W865X; E883X; G885X; G>C; 1824delA; 2694delT; 2055del9->A; A561E; G>C; 3100insA; E115X; E116X; L127X; C128X; G149X; Y161X; K162X; K163X; K174X; G178X; Q179X; K190X; G194X; L197X; L206X; E217X; L219X; G226X; Q237X; R242X; K246X; Y247X; K254X; E257X; R258X; S263X; S263X; E264X; Q270X; K273X; L288X; L288X; R289X; E292X; K294X; K298X; Y301X; R303X; S308X; S313X; K329X; C343X; W356X; Q359X; W1098X(TAG); W1098X(TGA); R1102X; K1177X; Y1182X; Q1186X; 1645_1648delAGTG; Y852X; L867X; 4272C>A; 211delG; 237insA; 241delAT; 284delA; 295ins8 ; 300delA; 306delTAGA; 306insA; 198_202delTCCTA; 347delC; insT; 1784delG; 1787delA; 1660_1661insA; 1802delC; 1806delA; 1833delT; 1845delAG/1846delGA; 1870delG; 1874insT; 2051delTT; 2113delA; 2116delCTAA; 2141insA; 2176insC; 2185insC; 2603delT; 2634delT; 2634insT; 2640delT; 2554dupT; 2566_2567insT; 2721del11; 2723delTT; 2732insA; 2734G- >AT; 2747delC; 2766del8 ; 2686_2687insT; 2705delG; 2896insAG; 2907delTT; 2909delT; 2789delG; 2803_2813delCTACCACTGGT; 2942insT; D110N; D110Y; G480C; Q493delCA; Q493P; Q493R; I506T; 5230 S. State Road, Ann Arbor, MI Tel Fax progenity.com Page 3 of 8

4 1898+5G->T; D614G; R1162L; 3667del4; I1234V; S1235R; Q1238X; A->G; D1270N; N1303I; 710_711+ 5del7; G622D; 2043delG; del13insAGAAA; 2108delA; R668C; F1052V; G1069R; R1070W; R1070Q; H139L; H139R; I148T; L227R; 936delTA; R347L; Q359K; T360K; S364P; 1288insTA; C524X; Q525X; L558S; Y569H; P574H; G576A; D579G; V754M; insA; 2869insG; S977F; L997F; 3130delA; I1027T; 2183delAA; 405+3A>C; G85V; 3765A>G; R31C; R31L; 296(+2)T>A; 296(+2)T>C; 296(+2)T>G; R74W; R75Q; 708delT Dihydrolipoamide dehydrogenase deficiency DLD p.g229c, p.y35x Ashkenazi Jewish 1 in in 2,121 Familial dysautonomia IKBKAP IVS20(+6)T>C, p.r696p Ashkenazi Jewish 1 in 31 1 in 3,001 Familial hyperinsulinism, ABCC8-related ABCC8 c g>a, delf1388 Ashkenazi Jewish 1 in 52 1 in % 1 in 1,701 1 in 184 Fanconi anemia, type C FANCC c.322delg, IVS4(+4)A>T, p.r548x Ashkenazi Jewish 1 in 89 1 in 8,801 1 in in 878 Fragile X syndrome* FMR1 CGG repeat analysis 1 in Gaucher disease GBA IVS2+1G>A, p.d409h, p.d409v, p.l444p, p.l47x, p.n370s, p.r496h, p.v394l Ashkenazi Jewish 1 in 18 1 in % 1 in in 279 Glycogen storage disease, type la G6PC p.q347x, p.r83c Ashkenazi Jewish 1 in 71 1 in 7,001 1 in % 1 in 321 Hemoglobinopathy evaluation N/A N/A Hemoglobinopathy, Hb C HBB 19G>A African American 1 in 15 1 in 46 1 in 68 1 in 1,401 1 in 4,501 1 in 6,701 Indian 1 in in in 11,801 1 in 16,901 1 in 25,401 Southeast 1 in in in in 29,101 1 in 66,101 1 in 79,001 1 in 49,901 Hemoglobinopathy, Hb D HBB 364G>C African American 1 in 15 1 in 46 1 in 68 1 in 1,401 1 in 4,501 1 in 6,701 1 in in 11,801 1 in 16, S. State Road, Ann Arbor, MI Tel Fax progenity.com Page 4 of 8

5 Indian 1 in in in in 25,401 1 in 29,101 1 in 66,101 Southeast 1 in in 79,001 1 in 49,901 Hemoglobinopathy, Hb E HBB 79G>A African American 1 in 15 1 in 46 1 in 1,401 1 in 4,501 1 in 68 1 in in 6,701 1 in 11,801 1 in 16,901 Indian 1 in in in in 25,401 1 in 29,101 1 in 66,101 Southeast 1 in in 79,001 1 in 49,901 Hemoglobinopathy, Hb O HBB 364G>A African American 1 in 15 1 in 46 1 in 1,401 1 in 4,501 1 in 68 1 in in 6,701 1 in 11,801 1 in 16,901 Indian 1 in in in in 25,401 1 in 29,101 1 in 66,101 Southeast 1 in in 79,001 1 in 49,901 Hemoglobinopathy, Sickle cell anemia (HbS) HBB 20A>T African American 1 in 14 1 in in 1,301 1 in 17,501 1 in in in in 18,201 1 in 35,901 1 in 62,401 Indian 1 in in in 1,336 1 in 72,401 1 in 77,401 1 in 133,501 Southeast 1 in 4,004 1 in 25 1 in 400,301 1 in 2,401 Joubert syndrome 2 TMEM216 p.r12l Ashkenazi Jewish 1 in 92 1 in 1,821 Maple syrup urine disease, type IA BCKDHA p.y438n Ashkenazi Jewish Mennonite 1 in 81 1 in 10 1 in in 8,001 1 in in S. State Road, Ann Arbor, MI Tel Fax progenity.com Page 5 of 8

6 Maple syrup urine disease, type IB BCKDHB p.e372x, p.g278s, p.r183p Ashkenazi Jewish 1 in 81 1 in in 8,001 1 in 267 Mucolipidosis type IV MCOLN1 del6.4kb, IVS3-2A>G Ashkenazi Jewish 1 in in 2,521 Nemaline myopathy 2 NEB p.r2478_d2512del Ashkenazi Jewish 1 in in 10,701 Niemann-Pick disease, type A and B SMPD1 delr608, fs330, p.l302p, p.r496l Ashkenazi Jewish 1 in 90 1 in % 20% 1 in 2,968 1 in 312 Northern African 1 in % 1 in 1,916 Spinal muscular atrophy SMN1 SMN2 Copy number analysis Two Copies SMN1 Three copies SMN1 Ashkenazi Jewish 1 in 35 1 in 41 1 in 53 93% 1 in in 3,500 1 in in 4,000 1 in in 5,000 African American 1 in 66 1 in in 50 71% 91% -- 1 in in 3,000 1 in 1,061 1 in 11, Tay-Sachs disease (DNA) HEXA 1278+TATC, IVS12+1G>C, IVS7+1G>A, IVS9+1G>A, p.g269s, p.r178h, p.r247w, p.r249w, del7.6kb Ashkenazi Jewish French Canadian/Cajun 1 in % 82% 59% 1 in in in 730 Tay-Sachs disease (hexosaminidase A) N/A N/A Ashkenazi Jewish French Canadian/Cajun 1 in 31 98% 98% 1 in 1,493 1 in 1, % 1 in 14,948 Usher syndrome, type IF PCDH15 p.r245x Ashkenazi Jewish 1 in in % 1 in in 439 Usher syndrome, type III CLRN1 528T>G, p.n48k Ashkenazi Jewish 1 in in 2,381 Walker-Warburg syndrome FKTN p.f390x Ashkenazi Jewish 1 in in 2,981 *X-linked disorder; carrier frequency and residual risk provided apply to females only. Additional variants evaluated as of April 1, S. State Road, Ann Arbor, MI Tel Fax progenity.com Page 6 of 8

7 Preparent Standard Panel Test References 1. Alter BP, Kupfer G. Fanconi Anemia. GeneReviews. Last updated February 7, Available at: 2. American College of Medical Genetics and Genomics (ACMG) Practice Guidelines. screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008;10(1): American College of Obstetricians and Gynecologists (ACOG) Committee Opinion Number 318. Screening for Tay-Sachs Disease. Obstet Gyn Oct;106(4): American College of Obstetricians and Gynecologists (ACOG) Committee Opinion Number 442. Preconception and Prenatal Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent. Obstet Gyn Oct;114(4): American College of Obstetrics and Gynecology Committee Opinion Number 486. Update on Screening for Cystic Fibrosis. Obstet Gyn Apr;117(4): American College of Obstetrics and Gynecology Committee Opinion Number 78. Hemoglobinopathies in pregnancy. Obstet Gyn Jan;109(1): Anderson SL, Ekstein J, Donnelly MC, et al. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum Genet Aug;115(3): [PMID: ] 8. Axelrod FB, Gold-Von Simson G. Familial dysautonomia. Orphanet. Last updated November Available at: http// php?lng=en&data_id= Bali DS, Chen Y, Goldstein JL. Glycogen Storage Disease Type 1. GeneReviews. Last updated September 19, Available at: Bender MA, Seibel GD. Sickle Cell Disease. GeneReviews. Last updated October 23, Available at: Blanchet C, Hamel C. Usher Syndrome. Orphanet. Last updated February Available at Brancati F, Dallapiccola B, Valente EM. Orphanet. Joubert syndrome. Last updated July Available at: http// Disease_Search.php?lng=EN&data_id= Caillaud C. Mucolipidosis Type 4. Orphanet. Last updated June Available at: http// 14. Cao A, Galanello R, Origa R. Beta-Thalassemia. GeneReviews. Last updated May 14, Available at: Chang W, Winder TL, LeDuc CA, et al. Founder fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn Jun;29(6): Driscoll, DA, Sehdev HM, Marchiano DA. Prenatal Screening for Genetic Conditions. Neoreviews. 2004;5:e Edvardson S, Shaag A, Zenvirt S, et al. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet Jan;86(1):93-7. [PMID: ] 18. Ekstein J, Rubin BY, Anderson SL, et al. Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Am J Med Genet Aug 30;129A(2): Elpeleg ON, Shaag A. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-jewish patients. J Inherit Metab Dis Jun;22(4): [PMID: ] 20. Genetics Home Reference. Gaucher Disease. Last updated September Available at: http// in condition in gaucher-disease. 21. Genetics Home Reference. Glycogen Storage Disease Type 1A. Last updated September Available at: http// in condition in glycogen-storage-disease-type-i. 22. Glaser B, Blech I, Krakinovsky Y, et al. ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. Genet Med Oct;13(10): [PMID: ] 23. Glaser B. Familial Hyperinsulinism. GeneReviews. Last updated January 24, Available at: Hechtman P, Kaplan F, Bayleran J, et al. More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians. Am J Hum Genet Nov;47(5): [PMID: ] 25. Hendrickson BC, Donohoe C, Akmaev VR, et al. Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet Sept;46(9): [PMID ] 26. Jalas C, Anderson SL, Laufer T, Martimucci K, Bulanov A, Xie X, Ekstein J, Rubin BY. A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. Blood Cells Mol Dis Jun 15;47(1): [PMID: ] 27. Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. GeneReviews. Last updated August 11, Available at: Kaul R, Gao GP, Matalon R, et al. Identification and expression of eight novel mutations among non-jewish patients with Canavan disease. Am J Hum Genet Jul;59(1): [PMID: ] 29. Keat BJB, Lentz J. Usher Syndrome Type I. GeneReviews. Last updated June 20, Available at: Lal A, Goldrich ML, Haines DA, Azimi M, Singer ST, Vichinsky EP. Heterogeneity of hemoglobin H disease in childhood. N Engl J Med Feb 24;364(8): Lorey F, Arnopp J, et al. Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state. Genetic Epidemiol. 1996;13: S. State Road, Ann Arbor, MI Tel Fax progenity.com Page 7 of 8

8 32. Manzini MC, Gleason D, Chang BS, et al. Ethnically diverse causes of Walker-Warburg Syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008;29(11): Matalon K, Matalon R. Canavan disease. Orphanet. Last updated December Available at: http// 34. McGovern MM, Schuchman EH. Acid Spingomyelinase Deficiency. GeneReviews. Last updated June 25, Available at: North KN, Ryan MM. Nemaline Myopathy. GeneReviews. Last updated September 18, Available at: Origa R, Moi P, Galanello R, Cao A. Alpha-Thalassemia. GeneReviews. Last updated December 29, Available at: Orphanet. Gaucher Disease. Last updated February Available at: http// 38. Orphanet. Walker-Warburg Syndrome. Last updated December Available at: Parisi M, Glass I. Joubert Syndrome and Related Disorders. GeneReviews. Last updated April 11, Available at: Pastores GM, Hughes DA. Gaucher Disease. GeneReviews. Last updated September 19, Available at: Population Surveys, Beta-Thalassemia Alleles. Available at: Accessed January 14, Quinonez SC, Thoene JG. Dihydrolipoamide Dehydrogenase Deficiency. GeneReviews. Last updated July 17,2014. Available at: Sanz M, German J. Bloom s Syndrome. GeneReviews. Last updated March 28, Available at: Schrijver I, Külm M, Gardner PI, Pergament EP, Fiddler MB. Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. J Mol Diagn Apr;9(2): [PMID ] 45. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis. 2007;30: Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornerich R. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat Nov;31(11): [PMID ] 47. Shaag A, Anikster Y, Christensen E, et al. The molecular basis of canavan (aspartoacylase deficiency) disease in European non-jewish patients. Am J Hum Genet Sep;57(3): [PMID: ] 48. Shohat M, Halpern G. Familial Dysautonomia. GeneReviews. Last updated June 1, Available at: Sistermans EA, de Coo RF, van Beerendonk HM, et al. Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-jewish population. Eur J Hum Genet Jul;8(7): [PMID: ] 50. Strauss KA, Puffenberger EG, Morton DH. Maple Syrup Urine Disease. GeneReviews. Last updated May 9, Available at: Vanier MT, Ferlinz K, Rousson R, et al. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Hum Genet Oct;92(4): Vives-Corrons JL. Congenital amegakaryocytic thrombocytopenia. Orphanet. Last updated August Available at: http// php?lng=en&data_id=3053. Progenity is a CLIA-certified clinical laboratory and is accredited by the College of American Pathologists (CAP). The information contained in this document is provided as an educational service for healthcare providers and their patients Progenity, Inc. All rights reserved. Progenity is a registered service mark of Progenity, Inc. Preparent is a trademark of Progenity, Inc. CO REV S. State Road, Ann Arbor, MI Tel Fax progenity.com Page 8 of 8

PATIENT EDUCATION. carrier screening INFORMATION

PATIENT EDUCATION. carrier screening INFORMATION PATIENT EDUCATION carrier screening INFORMATION carrier screening AT A GLANCE Why is carrier screening recommended? Carrier screening is one of many tests that can help provide information to you and your