--------------------------------------------------------------------------, Metropolitan Area Couples can learn about the study through pamphlets and posters in the Pilot Study Couple Recruitment, Triage and Reporting Plan ............ Information Pack provided by clinical GSWA clinic or by approaching clinical geneticist or genetic counsellor geneticist or genetic counsellor during meeting Couples will bring home the Couples who are Couples will book an appointment Information Pack to read through not interested can i----.i· participate in the the Participants Information Sheet . Couples who decide to with either a genetic counsellor or study by clinical geneticist and consider their decisions to completing a withdraw from the study can participate . decliner'ssurvey . decide if they want their sample and data destroyed A clinical geneticist or genetic Genetic counsellor will collect signed and removed from the study counsellor will provide pre-test ' . counselling and answer any questions ...........·. Participant Consent Forms and send them to researchers, keeping a copy DECIDE TO WITHDRAW couples may have about the study. of the form for their records Couples will sign the PICFs I I Couples will bring Through PathWest courier NOT INTERESTED Couples will receive a PathWest PathWest Study Blood collected at services, blood samples sent to ....,_ ______ .......: No further actions or participate Study Collection Form from genetic Collection Form to any PathWest collection PathWest Genomics Diagnostic counsellor in the decliner's survey PathWest collection centres Laboratory for DNA L-------------------------------------------------------------------------- centres sequencing ---------------- Rural Area Information Pack in Busselton • Testing Centre Next generation Library preparation, will contain a list DNA extraction Sample processing and unique Couples can learn about the of participating Variant filtering and sequencing data feed capture and next GP clinics and - and - identifying numbers given to study through pamphlets and Information Pack readily contact details prioritisation through Agilent generation posters in GP clinics, available at the Busselton ------- ------- ™ sequencing each couple . ----- ·r1 Alissa sequencing advertisements in local Testing Centre or participating newspaper, or Townhall GP clinics Information Pack in GP clinics will ' . DO NOT WANT meeting contain a space RESULTSBACK for participating Study GC informs couples of ' . Dr's stamp Are cou pies at-risk? Report generated and results and refers to GSWA Couples will bring home the Defined as both AT HIGH - . for follow up appointment. Couples will book an Information Pack to read - l sent back to the study Manual curation of couple having a Class4 RISK Copy of report and appointment with a through Participants genetic counsellor appointment referral to participating GP Information Sheet and consider l variants present in both or ClassS variant in the referring health professional their decisions to participate Couples who are not interested couples same gene or in the X­ ' can participate linked gene for female AT LOW ' . in the study by Couples shown to be at Practice manager will collect RISK At-risk couples counselled Participating GP will provide completing a partner low risk of having a child signed Participant Consent by GSWA genetic counsellor pre-test counselling and decliner's survey with one of the conditions Forms and send them to about limitations, condition answer any questions couples being screened for will researchers, keeping a copy of specific information, may have about the study Report sent to receive a letter explaining the form for their records this information, and will reproductive options and I study genetic impact on relatives NOT INTERESTED counsellor not receive information ' • about individual carrier No further actions or Participating GP will issue status. Copy of report and Couples decide what participate in the decliner's PathWest Study Collection I I letter sent to referring . reproductive methods they survey Form to couoles I I health professional --------------------------------------------------------------------------J decide to ursue Preconception carrier screening panel gene list Gene Disease name Pheme # Chr# Disease Type AARS2 Combined oxidative phosphorylation deficiency 8 614096 6p21.1 Mitochondrial ABAT GABA-transaminase deficiency 613163 16p13.2 Neurodegenerative ABCA12 Ichthyosis autosomal recessive 4B (harlequin) 242500 2q35 Cutaneous ABCA3 Surfactant metabolism dysfunction pulmonary 3 610921 16p13.3 Respiratory ABCC6 Arterial calcification generalized of infancy 2 614473 16p13.11 Cardiovascular ABCD1 Adrenoleukodystrophy 300100 Xq28 Neurodegenerative ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 3q21.3 Mitochondrial ACADS Short Chain Acyl-CoA Dehydrogenase Deficiency 201470 12q24.31 Metabolic ACADVL VLCAD deficiency 201475 17p13.1 Metabolic ACAT1 Ketothiolase Deficiency/Beta-ketothiolase deficiency 203750 11q22.3 Metabolic ACE Renal tubular dysgenesis 267430 17q23.3 Renal ADAMTS2 Ehlers-Danlos syndrome type VIIC 225410 5q35.3 Cutaneous ADAMTSL2 Geleophysic dysplasia 1 231050 9q34.2 Lysosomal AGA aspartylglucosaminuria 208400 4q34.3 Lysosomal AGK Sengers syndrome 212350 7q34 Mitochondrial AGL Glycogen storage disease IIIa 232400 1p21.2 Metabolic AGT Renal tubular dysgenesis 267430 1q42.2 Renal AGTR1 Renal tubular dysgenesis 267430 3q24 Renal AGXT Primary Hyperoxaluria Type 1 259900 2q37.3 Metabolic AIRE Polyglandular Autoimmune Syndrome Type 1 240300 21q22.3 Immunodeficiency AK2 Reticular dysgenesis 267500 1p35.1 Immunodeficiency ALDH3A2 Sjogren-Larsson Syndrome 270200 17p11.2 Developmental ALDH7A1 Epilepsy pyridoxine-dependent 266100 5q23.2 Neurologic ALG1 Congenital disorder of glycosylation type Ik 608540 16p13.3 Metabolic ALG8 Congenital disorder of glycosylation type Ih 608104 11q14.1 Metabolic ALPL Hypophosphatasia infantile 241500 1p36.12 Skeletal AMT Glycine encephalopathy 605899 3p21.31 Metabolic ANTXR2 Hyaline fibromatosis syndrome 228600 4q21.21 Cutaneous APOPT1 Mitochondrial complex IV deficiency 220110 14q32.33 Mitochondrial ARHGDIA Nephrotic syndrome type 8 615244 17q25.3 Renal ARSA Metachromatic leukodystrophy 250100 22q13.33 Lysosomal ARSB Mucopolysaccharoidosis Type VI/Maroteaux-Lamy (AJ Population) 253200 5q14.1 Lysosomal ARX Hydranencephaly with abnormal genitalia 300215 Xp21.3 Developmental ASAH1 Farber lipogranulomatosis 228000 8p22 Lysosomal ASL Argininosuccinic aciduria 207900 7q11.21 Metabolic ASNS Asparagine synthetase deficiency 615574 7q21.3 Metabolic ASPA Canavan disease 271900 17p13.2 Metabolic ASS1 Citrullinemia 215700 9q34.11 Metabolic Gene list (continue) ATM Ataxia-Telangiectasia 208900 11q22.3 Neurodegenerative ATP7A Menkes disease 309400 Xq21.1 Metabolic ATP7B Wilson Disease 277900 13q14.3 Metabolic ATPAF2 Mitochondrial complex V ATP synthase) deficiency nuclear type 1 604273 17p11.2 Mitochondrial B4GAT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 615287 11q13.2 Neuromuscular B9D2 Meckel syndrome 10 614175 19q13.2 Developmental BBS1 Bardet-Biedl Syndrome BBS1-Related 209900 11q13.2 Developmental BBS10 Bardet-Biedl Syndrome BBS10-Related 615987 12q21.2 Developmental BCAP31 Deafness dystonia and cerebral hypomyelination 300475 Xq28 Neurologic BCKDHA Maple syrup urine disease type Ia 248600 19q13.2 Metabolic BCKDHB Maple syrup urine disease type Ib 248600 6q14.1 Metabolic BCOR Microphthalmia syndromic 2 300166 Xp11.4 Developmental BCS1L GRACILE syndrome 603358 2q35 Metabolic BLM Bloom Syndrome (AJ Population) 210900 15q26.1 Developmental BMPER Diaphanospondylodysostosis 608022 7p14.3 Skeletal BOLA3 Multiple mitochondrial dysfunctions syndrome 2 614299 2p13.1 Mitochondrial BRAT1 Rigidity and multifocal seizure syndrome lethal neonatal 614498 7p22.3 Neurodegenerative BSCL2 Encephalopathy progressive with or without lipodystrophy 615924 11q12.3 Neurodegenerative BTD Biotinidase Deficiency 253260 3p25.1 Metabolic C10orf2 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 10q24.31 Mitochondrial CBS Homocystinuria ( B6-responsive and nonresponsive types) 236200 21q22.3 Metabolic CC2D2A Meckel syndrome 6 612284 4p15.32 Developmental CD27 Lymphoproliferative syndrome 2 615122 12p13.31 Immunodeficiency CD3D Immunodeficiency 19 615617 11q23.3 Immunodeficiency CD3E Immunodeficiency 18 615615 11q23.3 Immunodeficiency CD40LG Immunodeficiency X-linked with hyper-IgM 308230 Xq26.3 Immunodeficiency CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly 616300 5q23.2 Skeletal CEP290 Meckel syndrome 4 611134 12q21.32 Developmental CFL2 Nemaline myopathy 7 autosomal recessive 610687 14q13.1 Neuromuscular CFTR Cystic Fibrosis 277180 7q31.2 Developmental CHRNA1 Multiple pterygium syndrome lethal type 253290 2q31.1 Neuromuscular CHRND Multiple pterygium syndrome lethal type 253290 2q37.1 Neuromuscular CHRNG Escobar syndrome 265000 2q37.1 Developmental CHUK Cocoon syndrome 613630 10q24.31 Developmental CIITA Bare lymphocyte syndrome type II complementation group A 209920 16p13.13 Immunodeficiency CLN3 CLN3-Related Neuronal Ceroid Lipofuscinosis/Juvenile Batten Disease 204200 16p11.2 Neurodegenerative CLN5 Ceroid lipofuscinosis neuronal 5 256731 13q22.3 Neurodegenerative CLN6 Ceroid lipofuscinosis neuronal 6 204300 15q23 Neurodegenerative Gene list (continue) CLN8 Ceroid lipofuscinosis neuronal 8 600143 8p23.3 Neurodegenerative CLPB 3-methylglutaconic aciduria type VII with cataracts neurologic