Focusing on Personalised Medicine
EXTENDED CARRIER SCREENING Peace of Mind for Planned Pregnancies
Extended carrier screening is an important tool for prospective parents to help them determine their risk of having a child affected with a heritable disease. In many cases, parents aren’t aware they are carriers and have no family history due to the rarity of some diseases in the general population. What is covered by the screening?
Genomics For Life offers a comprehensive Extended Carrier Screening test, providing prospective parents with the information they require when planning their pregnancy. Extended Carrier Screening has been shown to detect carriers who would not have been considered candidates for traditional risk- based screening. With a simple mouth swab collection, we are able to test for over 419 genes associated with inherited diseases, including Fragile X Syndrome, Cystic Fibrosis and Spinal Muscular Atrophy. The assay has been developed in conjunction with clinical molecular geneticists, and includes genes listed in the NIH Genetic Test Registry. For a list of genes and disorders covered, please see the reverse of this brochure. If your gene of interest is not covered on our Extended Carrier Screening panel, please contact our friendly team to assist you in finding a gene test panel that suits your needs. Why have Extended Carrier Screening?
Extended Carrier Screening prior to pregnancy enables couples to learn about their reproductive risk and consider a complete range of reproductive options, including whether or not to become pregnant, whether to use advanced reproductive technologies, such as preimplantation genetic diagnosis, or to use donor gametes. Screening also allows couples to consider prenatal diagnosis and pregnancy management options in the event of an affected fetus.
Whilst individually each disease tested is rare, around 25% of people will carry at least one abnormal mutation. These disorders are usually autosomal recessive, which means that a child must inherit a defective gene from each parent to have the disease. For autosomal recessive conditions, if a person is a carrier of the disease, they have one defective copy of the gene and one normal copy and typically don’t have any symptoms of the disease. If both you and your partner are carriers of an autosomal recessive disorder, your child will have a 1 in 4 chance of inheriting one defective gene from each of you and being born with the disease. Approximately
1-2 of every 100 couples within the general population are at risk of being a carrier for an autosomal recessive genetic condition.[1] Extended Carrier Screening for couples who are considering starting a family, aims to identify if each individual may be a carrier for the same autosomal recessive or X-linked genetic condition. Why choose Genomics For Life?
At Genomics for Life we understand the sensitivities surrounding testing and we can assure you we strive to provide all of our patients with the highest level of professionalism, care and compassion. We offer an easy mouth swab collection kit that can be done in the comfort of your home and our in-house laboratory located in Brisbane, Australia handles your sample from start to finish. How Do I Organise Testing?
Download Request Receive testing kit Return your sample Genomics For Results sent to Form, complete and from Genomics to Genomics For Life Life completes nominated health return to for Life for testing requested testing care professional Genomics For Life Toll Free: 1800 445 433 Fax: 1300 658 893 Email: [email protected] Web: www.genomicsforlife.com.au 1. Ropers, H. (2012). On the future of genetic risk assessment. Journal Of Community Genetics, 3(3), 229-236. doi: 10.1007/s12687-012-0092-2 Condition Gene Condition Gene Condition Gene Condition Gene
Achalasia-Addisonianism-Alacrima Syndrome AAAS Bardet-Biedl Syndrome 9 BBS9 Severe Combined Immunodeficiency, Type DCLRE1C Galactose epimerase deficiency GALE Athabaskan Harlequin ichthyosis ABCA12 Pseudocholinesterase Deficiency BCHE Xeroderma Pigmentosum Group E DDB2 Galactokinase Deficiency (Galactosemia, GALK1 Type II) Stargardt Disease, Type 1 ABCA4 Maple Syrup Urine Disease, Type 1A BCKDHA
Smith-Lemli-Opitz Syndrome DHCR7 Mucopolysaccharidosis, Type IVA GALNS Progressive Familial Intrahepatic Cholestasis, Type 2 ABCB11 Maple Syrup Urine Disease, Type 1B BCKDHB
Retinitis Pigmentosa 59 DHDDS Hyperphosphatemic familial tumoral GALNT3 Progressive Familial Intrahepatic Cholestasis, Type 3 ABCB4 GRACILE Syndrome BCS1L calcinosis
Pseudoxanthoma elasticum ABCC6 Bloom Syndrome BLM Dyskeratosis congenita, X-Linked DKC1 Galactosemia GALT (CNV) Familial Hyperinsulinism, ABCC8-Related ABCC8 Fanconi anemia, Group J BRIP1 Dihydrolipoamide Dehydrogenase Deficiency DLD Guanidinoacetate Methyltransferase GAMT Adrenoleukodystrophy, X-Linked ABCD1 Bartter syndrome, Type 4a BSND Deficiency
Mitochondrial Complex I Deficiency, ACAD9-Related ACAD9 Biotinidase Deficiency BTD Duchenne/Becker Muscular Dystrophy DMD Gaucher Disease GBA (CNV) Medium Chain Acyl-CoA Dehydrogenase Deficiency ACADM Isolated growth hormone deficiency, Type III, BTK X-linked Ciliary Dyskinesia, Primary 3 DNAH5 Glycogen Storage Disease, Type IV GBE1
Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS Desbuquois dysplasia 1 CANT1 Ciliary Dyskinesia, Primary 1 DNAI1 Glutaric Acidemia, Type 1 GCDH
Short/branched chain acyl-CoA dehydrogenase ACADSB Limb-Girdle Muscular Dystrophy, Type 2A CAPN3 Ciliary Dyskinesia, Primary 9 DNAI2 Dopa-responsive dystonia GCH1
Very Long-Chain Acyl-CoA Dehydrogenase ACADVL Catecholaminergic polymorphic ventricular CASQ2 Ciliary Dyskinesia, Primary, 16 DNAL1 Grebe syndrome GDF5 Deficiency tachycardia Congenital Myasthenic Syndrome, DOK7-Related DOK7 Combined Oxidative Phosphorylation GFM1 Beta-Ketothiolase Deficiency ACAT1 Homocystinuria, CBS-Related CBS Deficiency 1
Acyl-CoA Oxidase I Deficiency ACOX1 Mental retardation, autosomal recessive 3 CC2D1A (CNV) Dihydropyrimidine Dehydrogenase Deficiency DPYD Isolated growth hormone deficiency, GH1 (CNV) Type IA/II Combined Malonic and Methylmalonic Aciduria ACSF3 Usher Syndrome, Type 1D CDH23 Limb-Girdle Muscular Dystrophy, Type 2B DYSF Isolated growth hormone deficiency, Type IB GHRHR Severe Combined Immunodeficiency, ADA-Related ADA Leber Congenital Amaurosis, Type CEP290 CEP290 Hypohidrotic Ectodermal Dysplasia, X-Linked EDA Charcot-Marie-Tooth Disease with Deaf- GJB1 Ehlers-Danlos Syndrome, Type VIIC ADAMTS2 Retinitis Pigmentosa 26 CERKL ness, X-Linked
Bilateral Frontoparietal Polymicrogyria ADGRG1 Cystic Fibrosis CFTR (CNV) Hypohidrotic Ectodermal Dysplasia EDAR Non-Syndromic Hearing Loss (a.k.a. GJB2 Connexin 26) Aspartylglucosaminuria AGA Choroideremia, X-Linked CHM Wolcott-Rallison Syndrome EIF2AK3 Erythrokeratodermia variabilis et GJB3 progressiva Glycogen Storage Disease, Type III (Cori/Forbes) AGL Congenital Myasthenic Syndrome, CHRNE-Related CHRNE
Leukoencephalopathy with Vanishing White Matter EIF2B5 Non-Syndromic Hearing Loss (a.k.a. GJB6 Rhizomelic Chondrodysplasia Punctata, Type 3 AGPS Escobar Syndrome CHRNG Connexin 30) (CNV)
Hyperoxaluria, Primary, Type 1 AGXT Bare Lymphocyte Syndrome, CIITA-Related CIITA Dysautonomia, familial ELP1 Fabry Disease GLA (CNV)
Autoimmune polyendocrinopathy syndrome, type I AIRE Ceroid Lipofuscinosis, Neuronal, 3 CLN3 (CNV) Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMD Mucopolysaccharidosis, Type IVB / GM1 GLB1 Gangliosidosis Sjogren-Larsson Syndrome ALDH3A2 Ceroid Lipofuscinosis, Neuronal, 5 CLN5 Xeroderma Pigmentosum Group D ERCC2 Glycine Encephalopathy, GLDC-Related GLDC Pyridoxine-dependent epilepsy ALDH7A1 Ceroid Lipofuscinosis, Neuronal, 6 CLN6 Xeroderma Pigmentosum Group B ERCC3 Lethal Congenital Contracture Syndrome 1 GLE1 Hereditary Fructose Intolerance ALDOB Ceroid Lipofuscinosis, Neuronal, 8 (a.ka. Northern CLN8 Epilepsy) Xeroderma Pigmentosum Group F ERCC4 Inclusion Body Myopathy 2 GNE
Congenital Disorder of Glycosylation, Type 1C ALG6 Usher Syndrome, Type 3 CLRN1 Xeroderma pigmentosum Group G ERCC5 Mucolipidosis II/IIIA GNPTAB
Alstrom Syndrome ALMS1 Achromatopsia, CNGA3-Related CNGA3 Cockayne syndrome, type B ERCC6 Mucolipidosis III gamma GNPTG
Hypophosphatasia, ALPL-Related ALPL Achromatopsia, CNGB3-Related CNGB3 Cockayne syndrome, type A ERCC8 Mucopolysaccharidosis, Type IIID GNS (Sanfilippo D) Persistent Müllerian duct syndrome type 1 AMH Fibrochondrogenesis type 2 COL11A2 Roberts Syndrome ESCO2 Geroderma osteodysplastica GORAB Persistent Müllerian duct syndrome type 2 AMHR2 Alport Syndrome, COL4A3-Related COL4A3 Glutaric Acidemia, Type 2A ETFA Bernard-Soulier Syndrome, Type A2 GP1BA Glycine Encephalopathy, AMT-Related AMT Alport Syndrome, COL4A4-Related COL4A4 Glutaric Acidemia, Type 2B ETFB Bernard-Soulier Syndrome, Type B GP1BB Mental retardation, enteropathy, deafness, peripheral AP1S1 Alport Syndrome, X-Linked COL4A5 neuropathy, ichthyosis, and keratoderma (MEDNIK) Glutaric Acidemia, Type 2C ETFDH Bernard-Soulier Syndrome, Type C GP9
Familial Nephrogenic Diabetes Insipidus, AQP2 Dystrophic Epidermolysis Bullosa, COL7A1-Related COL7A1 Ethylmalonic Encephalopathy ETHE1 Primary Hyperoxaluria, Type 2 GRHPR AQP2-Related
Ellis-van Creveld Syndrome, EVC-Related EVC Leber congenital amaurosis 1 GUCY2D Androgen insensitivity syndrome, X-Linked AR Carbamoyl Phosphate Synthetase I Deficiency CPS1
Ellis-van Creveld Syndrome, EVC2-related EVC2 Mucopolysaccharidosis, Type VII GUSB Argininemia ARG1 Carnitine Palmitoyltransferase IA Deficiency CPT1A
Pontocerebellar Hypoplasia, Type 1B EXOSC3 Long Chain 3-Hydroxyacyl-CoA Dehydroge- HADHA Metachromatic Leukodystrophy, ARSA-Related ARSA Carnitine Palmitoyltransferase II Deficiency CPT2 nase Deficiency
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) ARSB Leber congenital amaurosis 8 CRB1 Retinitis Pigmentosa 25 EYS Trifunctional protein deficiency HADHB
Argininosuccinate Lyase Deficiency ASL Cystinosis CTNS (CNV) Factor XI deficiency F11 Congenital Neutropenia, HAX1-Related HAX1
Asparagine Synthetase Deficiency ASNS Papillon-Lefevre Syndrome CTSC Prothrombin deficiency F2 Alpha-Thalassemia HBA1 (CNV) Canavan Disease ASPA Ceroid Lipofuscinosis, Neuronal, 10 (CLN10 CTSD Disease) Hemophilia A F8 Alpha-Thalassemia HBA2 (CNV) Citrullinemia, Type 1 ASS1 Pycnodysostosis CTSK Hemophilia B F9 Beta-Hemoglobinopathies HBB (CNV) Ataxia-Telangiectasia ATM (CNV) Chronic Granulomatous Disease, CYBA-Related CYBA Tyrosinemia, Type I FAH Tay-Sachs Disease HEXA Renal Tubular Acidosis and Deafness, AT- ATP6V1B1 Chronic Granulomatous Disease, X-Linked CYBB (CNV) P6V1B1-Related Retinitis Pigmentosa 28 FAM161A Sandhoff Disease HEXB Menkes Syndrome, X-Linked ATP7A Congenital Adrenal Hyperplasia, 11-beta-hydrox- CYP11B1 ylase-deficient Fanconi Anemia, Group A FANCA Hemochromatosis, Type 1 HFE (CNV) Wilson Disease ATP7B Corticosterone Methyloxidase Deficiency CYP11B2 Fanconi Anemia, Group C FANCC Hemochromatosis, Type 2A HFE2 Progressive Familial Intrahepatic Cholestasis, Type 1 ATP8B1 Congenital Adrenal Hyperplasia, 17-Alpha-Hydrox- CYP17A1 (CNV) ylase Deficiency Fanconi Anemia, Group G FANCG Alkaptonuria HGD Alpha-Thalassemia Intellectual Disability Syndrome, ATRX Aromatase Deficiency CYP19A1 X-Linked Fumarase Deficiency FH Mucopolysaccharidosis, Type IIIC HGSNAT (Sanfilippo C) Bardet-Biedl Syndrome 1 BBS1 Primary Congenital Glaucoma CYP1B1 Limb-Girdle Muscular Dystrophy, Type 2I FKRP Holocarboxylase Synthetase Deficiency HLCS Bardet-Biedl Syndrome 10 BBS10 Congenital Adrenal Hyperplasia, 21-hydroxy- CYP21A2 (CNV) lase-deficient Walker-Warburg Syndrome, FKTN-Related FKTN 3-Hydroxy-3-Methylglutaryl-Coenzyme A HMGCL Lyase Deficiency Bardet-Biedl Syndrome 12 BBS12 Cerebrotendinous Xanthomatosis CYP27A1 Glycogen Storage Disease, Type IA G6PC Heme Oxygenase-1 Deficiency HMOX1 Bardet-Biedl Syndrome 2 BBS2 Vitamin D-dependent rickets type 1A CYP27B1 Glucose-6-Phosphate Dehydrogenase Deficiency* G6PD Primary Hyperoxaluria, Type 3 HOGA1 Bardet-Biedl Syndrome 4 BBS4 Maple Syrup Urine Disease, Type 2 DBT (CNV) Glycogen Storage Disease, Type II (Pompe Disease) GAA Tyrosinemia, Type III HPD (CNV) Fragile X Syndrome FMR1 Krabbe Disease GALC Hermansky-Pudlak Syndrome 1 HPS1 (CNV)
Toll Free: 1800 445 433 Fax: 1300 658 893 Toll Free: 1800 445 433 Fax: 1300 658 893 Email: [email protected] Web: www.genomicsforlife.com.au Email: [email protected] Web: www.genomicsforlife.com.au Condition Gene Condition Gene Condition Gene Condition Gene
Hermansky-Pudlak Syndrome 3 HPS3 Abetalipoproteinemia MTTP Cytochrome P450 oxidoreductase deficiency POR Cystinuria, Type B SLC7A9
Hermansky-Pudlak syndrome 4 HPS4 Methylmalonic Aciduria, Type mut(0) MUT Ceroid Lipofuscinosis, Neuronal, 1 PPT1 Schimke Immunoosseous Dysplasia SMARCAL1
17-beta hydroxysteroid dehydrogenase 3 deficiency HSD17B3 Deafness, autosomal recessive, 3 MYO15A Myasthenic syndrome, congenital, 22 PREPL (CNV) Spinal Muscular Atrophy SMN1 (CNV)
D-Bifunctional Protein Deficiency HSD17B4 Usher Syndrome, Type 1B MYO7A Combined Pituitary Hormone Deficiency 2 PROP1 Niemann-Pick Disease, Types A/B SMPD1
3-Beta-Hydroxysteroid Dehydrogenase Type II HSD3B2 Mucopolysaccharidosis, Type IIIB (Sanfilippo NAGLU Arts syndrome, X-Linked PRPS1 5-alpha reductase deficiency SRD5A2 Deficiency B) Metachromatic Leukodystrophy, PSAP-Related PSAP GM3 synthase deficiency ST3GAL5 Hydrolethalus Syndrome HYLS1 N-acetylglutamate Synthase Deficiency NAGS 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) PTS Lipoid Congenital Adrenal Hyperplasia STAR Mucopolysaccharidosis, Type II (Hunter Syndrome) IDS Nijmegen Breakage Syndrome NBN Deficiency
Mucopolysaccharidosis, Type I (Hurler Syndrome) IDUA Charcot-Marie-Tooth Disease type 4D NDRG1 Mitochondrial Myopathy and Sideroblastic PUS1 Deafness, autosomal recessive 16 STRC (CNV) Anemia (MLASA1) Severe Combined Immunodeficiency, X-Linked IL2RG Mitochondrial Complex I Deficiency, NDU- NDUFAF5 FAF5-Related Glycogen Storage Disease, Type V (McArdle PYGM Mitochondrial DNA depletion syndrome 5 SUCLA2 Disease) (encephalomyopathic with or without methyl- Glanzmann thrombasthenia ITGB3 (CNV) Mitochondrial complex I deficiency NDUFS4 malonic aciduria)
Isovaleric Acidemia IVD Mitochondrial Complex I Deficiency, NDUFS6 Carpenter Syndrome RAB23 Multiple Sulfatase Deficiency SUMF1 NDUFS6-Related Omenn Syndrome, RAG1-Related RAG1 Leigh Syndrome SURF1 Congenital Hyperinsulinism, KCNJ11-Related KCNJ11 Nemaline Myopathy, NEB-Related NEB (CNV) Omenn Syndrome, RAG2-Related RAG2 Tyrosinemia, Type II TAT LAMA2-related Muscular Dystrophy LAMA2 Sialidosis NEU1 Congenital Myasthenic Syndrome, RAPSN-Re- RAPSN Osteopetrosis, Infantile Malignant, TCIRG1 Herlitz Junctional Epidermolysis Bullosa, LAMA3 Hydatidiform Mole, Recurrent NLRP7 lated TCIRG1-Related LAMA3-Related Pontocerebellar Hypoplasia, Type 1 and 6, RARS2 Hereditary Spastic Paraparesis, Type 49 TECPR2 Herlitz Junctional Epidermolysis Bullosa, LAMB3 Niemann-Pick Disease, Type C1/D NPC1 RARS2-Related LAMB3-Related Leber Congenital Amaurosis, Type RDH12 RDH12 Hemochromatosis, Type 3, TFR2-Related TFR2 Herlitz Junctional Epidermolysis Bullosa, LAMC2 Niemann-Pick Disease, Type C2 NPC2 LAMC2-Related Retinal Dystrophies, RLBP1-Associated RLBP1 Lamellar Ichthyosis, Type 1 TGM1
Leber Congenital Amaurosis, Type LCA5 LCA5 Juvenile Nephronophthisis NPHP1 Cartilage-Hair Hypoplasia RMRP Segawa Syndrome, TH-Related TH
Familial Hypercholesterolemia, LDLR-Related LDLR Congenital Finnish Nephrosis NPHS1 Aicardi-Goutieres syndrome, RNASEH2C-related RNASEH2C Deafness, autosomal dominant 36, autosomal TMC1 recessive 7 Familial Hypercholesterolemia, LDLRAP1-Related LDLRAP1 Steroid-Resistant Nephrotic Syndrome NPHS2 Leber Congenital Amaurosis 2 RPE65 Joubert Syndrome 2 / Meckel Syndrome 2 TMEM216 Leydig cell hypoplasia LHCGR Congenital Adrenal Hypoplasia, X-linked NR0B1 Ciliopathies, RPGRIP1L-Related RPGRIP1L Congenital hypothyroidism TPO Stuve-Wiedemann Syndrome LIFR Enhanced S-Cone Syndrome NR2E3 Juvenile Retinoschisis, X-Linked RS1 Ceroid Lipofuscinosis, Neuronal, 2 TPP1 Lysosomal Acid Lipase Deficiency LIPA Congenital Insensitivity to Pain with Anhidrosis NTRK1 (CIPA) Dyskeratosis Congenita, RTEL1-Related RTEL1 Aicardi-Goutieres syndrome, TREX1-related TREX1
Woolly Hair/Hypotrichosis Syndrome LIPH Ornithine Aminotransferase Deficiency OAT Autosomal Recessive Spastic Ataxia of Charlev- SACS Bardet-Biedl syndrome 11 TRIM32 oix-Saguenay Deafness, Autosomal Recessive 77 LOXHD1 Lowe syndrome, X-Linked OCRL MIRAGE syndrome SAMD9 Mulibrey nanism syndrome TRIM37 Lipoprotein Lipase Deficiency LPL Costeff Syndrome (3-Methylglutaconic OPA3 Aciduria, Type 3) Aicardi-Goutires Syndrome SAMHD1 Acute Infantile Liver Failure, TRMU-Related TRMU (CNV) Leigh Syndrome, French-Canadian Type LRPPRC Ornithine Transcarbamylase Deficiency OTC Shwachman-Diamond syndrome SBDS Pontocerebellar hypoplasia TSEN54 Chediak-Higashi syndrome LYST Phenylketonuria PAH (CNV) Pontocerebellar Hypoplasia, Type 2D SEPSECS Combined Oxidative Phosphorylation TSFM Alpha-Mannosidosis MAN2B1 Pantothenate Kinase-Associated Neurode- PANK2 Deficiency 3 generation Alpha-1-Antitrypsin Deficiency SERPINA1 Congenital hypothyroidism TSHB Hypermethioninemia MAT1A Pyruvate Carboxylase Deficiency PC Limb-Girdle Muscular Dystrophy, Type 2D SGCA Hypothyroidism, congenital, nongoitrous, 1 TSHR 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency MCCC1 Propionic Acidemia, PCCA-Related PCCA Limb-Girdle Muscular Dystrophy, Type 2E SGCB Tricho-Hepato-Enteric Syndrome TTC37 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency MCCC2 Propionic Acidemia, PCCB-Related PCCB Limb-Girdle Muscular Dystrophy, Type 2F SGCD Familial dilated cardiomyopathy TTN Mucolipidosis, Type IV MCOLN1 (CNV) Usher Syndrome, Type 1F PCDH15 (CNV) Limb-Girdle Muscular Dystrophy, Type 2C SGCG Ataxia with Vitamin E Deficiency TTPA RETT Syndrome MECP2 Pyruvate Dehydrogenase Deficiency, X-Linked PDHA1 Mucopolysaccharidosis, Type IIIA (Sanfilippo A) SGSH Myoneurogastrointestinal Encephalopathy TYMP Microcephaly, postnatal progressive, with seizures MED17 Pyruvate Dehydrogenase Deficiency, PDHB (MNGIE) and brain atrophy PDHB-Related Gitelman Syndrome SLC12A3 Oculocutaneous Albinism, Type 1 TYR Familial Mediterranean Fever MEFV Prolidase deficiency PEPD Agenesis of the Corpus Callosum with Peripher- SLC12A6 Oculocutaneous albinism, Type 3 TYRP1 Spondylothoracic Dysostosis, MESP2-Related MESP2 Cytochrome-c oxidase deficiency PET100 al Neuropathy (Andermann Syndrome)
Ceroid Lipofuscinosis, Neuronal, 7 MFSD8 Peroxisome Biogenesis Disorder 1A PEX1 Salla Disease SLC17A5 Crigler-Najjar Syndrome UGT1A1 (Zellweger) Megaloblastic Anemia Syndrome SLC19A2 Beta-ureidopropionase deficiency UPB1 Bardet-Biedl Syndrome 6 MKKS Peroxisome Biogenesis Disorder 6A PEX10 (Zellweger) Carnitine Deficiency SLC22A5 Usher Syndrome, Type 1C USH1C
Meckel-Gruber Syndrome, Type 1 MKS1 Peroxisome Biogenesis Disorder 3A PEX12 Citrullinemia, Type II SLC25A13 Usher Syndrome, Type 2A USH2A (CNV) (Zellweger) Hyperornithinemia-Hyperammonemia-Homoci- SLC25A15 Choreo-acanthocytosis VPS13A Megalencephalic Leukoencephalopathy with MLC1 Peroxisome Biogenesis Disorder 5A PEX2 trullinuria (HHH) Syndrome (CNV) Subcortical Cysts (Zellweger) Carnitine-acylcarnitine translocase deficiency SLC25A20 Cohen Syndrome VPS13B Malonyl-CoA decarboxylase deficiency MLYCD Peroxisome Biogenesis Disorder 4A PEX6 (Zellweger) Achondrogenesis, Type 1B SLC26A2 Congenital Neutropenia, VPS45-Related VPS45
Methylmalonic Aciduria, MMAA-Related MMAA Rhizomelic Chondrodysplasia Punctata, Type 1 PEX7 Congenital Chloride Diarrhea SLC26A3 Pontocerebellar Hypoplasia, Type 2E VPS53
Methylmalonic Aciduria, MMAB-Related MMAB Glycogen Storage Disease, Type VII PFKM Pendred Syndrome SLC26A4 Pontocerebellar Hypoplasia, Type 1A VRK1
Methylmalonic Aciduria and Homocystinuria, MMACHC Phosphoglycerate Dehydrogenase Deficiency PHGDH Autism Spectrum, Epilepsy and Arthrogryposis SLC35A3 Microphthalmia/Anophthalmia, VSX2-Related VSX2 Type cblC
Glycogen Storage Disease, Type IB SLC37A4 Von Willebrand disease VWF Methylmalonic Aciduria and Homocystinuria, MMADHC Multiple congenital anomalies-hypotonia-sei- PIGN Type cblD zures syndrome 1 Acrodermatitis Enteropathica SLC39A4 Wiskott-Aldrich syndrome, X-Linked WAS Molybdenum cofactor deficiency MOCS1 Polycystic Kidney Disease, Autosomal PKHD1 Recessive Cystinuria, Type A SLC3A1 (CNV) Progressive Pseudorheumatoid Dysplasia WISP3
Congenital Disorder of Glycosylation, Type 1B MPI Infantile neuroaxonal dystrophy 1 PLA2G6 Oculocutaneous albinism, Type 4 SLC45A2 Odonto-Onycho-Dermal Dysplasia / Schopf- WNT10A Schulz-Passarge Syndrome Congenital Amegakaryocytic Thrombocytopenia MPL Congenital Disorder of Glycosylation, Type 1A, PMM2 PMM2-Related Corneal Dystrophy and Perceptive Deafness SLC4A11 Werner Syndrome WRN
Hepatocerebral Mitochondrial DNA Depletion MPV17 Pyridoxal 5’-phosphate-dependent epilepsy PNPO Creatine Transporter Defect (Cerebral Creatine SLC6A8 Xeroderma pigmentosum Group A XPA Syndrome, MPV17-Related Deficiency Syndrome 1, X-Linked)
Ataxia-telangiectasia-like disorder 1 MRE11 POLG-Related Disorders POLG Lysinuric Protein Intolerance SLC7A7 Xeroderma Pigmentosum Group C XPC
Homocystinuria due to Deficiency of MTHFR MTHFR Xeroderma pigmentosum Variant POLH Spastic Paraplegia Type 15 ZFYVE26
Myotubular Myopathy, X-Linked MTM1 Muscle-Eye-Brain Disease, POMGNT1-Related POMGNT1
Homocystinuria, Type cblE MTRR
Toll Free: 1800 445 433 Fax: 1300 658 893 Email: [email protected] Web: www.genomicsforlife.com.au
Dear Doctor,
Your patient is exploring genetic testing and has requested Genomics For Life to perform the testing for them.
Genomics For Life is a fully NATA accredited, TGA approved, clinical diagnostic laboratory located in
Brisbane. It offers a complete range of genomic testing services, including comprehensive inherited disease screening. The service is performed with the support of the patient’s referring Doctor.
Our inherited disease testing is performed using Next Generation Sequencing and covers the coding regions of the gene and a small amount of the non-coding parts of the gene. It does not cover all of the non-coding parts (introns, inversions, promoter regions) of the genes. The amount of the gene covered, and the types of mutations depends on the gene itself. Further information may be required to check if a specific mutation is covered by testing.
Our assays detect known variants but can also identify unknown variants, as they do not just look for the common/known variants. It does not look at copy numbers where there may be loss of one copy of the gene or an increase in the copies of the gene. A comprehensive report is issued if there are any variants identified that are clinically significant. Pathogenic variants, likely pathogenic variants, and variants of uncertain significance are reported in the specific genes requested for testing.
The gene requested will be tested as part of one of our multi-gene panels and as such testing could reveal information unrelated to the patient’s clinical features. Pathogenic variants and likely pathogenic incidental findings in the genes screened on the multi-gene panel will always be reported back to the referring clinician. If you require a list of the genes associated with a particular panel, please contact us.
The genes are also screened as per the ACMG guidelines and likely deleterious and pathogenic mutations in the relevant genes, if included on the multi-gene panel, are reported. A full list of ACMG genes is available here: https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/
It is assumed that the patient has been appropriately counselled by the referring clinician or genetic counsellor about the nature of the test and potential incidental findings this multi-gene panel may reveal. If you require a referral for a genetic counsellor for the patient, please contact Genomics For Life. Genetic counselling can be arranged for your patient, by health care professionals that are conversant in genetic testing.
Additional information is available on our website: www.genomicsforlife.com.au, including details on our comprehensive testing menu. The FAQ’s contain more information on how Genomics testing may assist patient care and details of the processes involved in testing.
Prior to proceeding with testing, we encourage the patient to discuss with us their budget and testing options, to ensure that we offer a solution that is both economically viable for the patient and useful for the medical practitioner.
If you would like to contact us, to further discuss testing, please don’t hesitate to call us on 1800 445 433 or via email at [email protected]
Kind regards, Genomics For Life INHERITED DISEASE MUTATION SCREENING REQUEST FORM
PATIENT DETAILS ORDERING MEDICAL PRACTITIONER DETAILS
Patient Surname: Doctor Name:
Patient Given Names: Provider Number:
DOB: ____ / ____ / ______Male Female Practice Name:
Patient Address: Practice Address:
Contact Number: Contact Number:
Email: Fax:
Medicare Details: Email (For Results):
PATIENT INFORMED CONSENT STATEMENT COPY DOCTOR(S)
1. I have been informed about the nature and the purpose of this genetic test, and have received an explanation of the effectiveness and limitations of this genetic test. All of my questions have been answered to my satisfaction. 2. I have discussed the benefits and risks of the genetic test with my doctor/genetic counsellor. I understand that some genetic tests may have now, or in the future, medical, psychological or insurance discrimination issues for my extended family and myself. 3. I have been informed that sometimes genetic testing can reveal secondary findings and I have discussed with my doctor if and/or how such results will be shared with me. I understand that it is up to me to decide whether I want secondary results reported MEDICAL PRACTITIONER CONSENT STATEMENT back to me and what results I want reported. I understand that secondary findings I have counselled the patient on the purpose of the testing herein and may require explanation by a genetic specialist. provided information on the risks, benefits and limitations of the testing as 4. I have been informed who may access my biological samples and that any remaining well as the implications of the results. I confirm that I have the consent of samples may be retained by the laboratory according to NPAAC guidelines. the patient to request for testing on the sample. Post-test counselling shall 5. I have been informed who may have access to my genetic test result, which is part of be provided after results become my confidential medical records. available, if required. 6. I understand that an invasive procedure will be required during pregnancy to verify results found on screening tests. I understand that such procedures carry a risk, Doctor’s Signature: however small, to the pregnancy. 7. I consent to having my sample collected for the purposes of genetic testing. Date:
Privacy Note: The information provided will be used to assess any Medicare Benefit payable for the services rendered Patient’s Signature: and to facilitate the proper administration of government health programs, and may be used to update enrolment records. Its collection is authorised by provisions of the Health Insurance Act 1973. The information may be disclosed to the Department of Health and Ageing or to a person in the medical practice associated with this claim, or as authorised/ Date: required by law.
TEST(S) REQUESTED Gene(s) to be Tested:
Disease:
Patient History - Please attach all relevant patient history and pathology reports:
Please ensure all above fields are completed. Once the Test Requesition Form has been completed, please return to Genomics For Life along with the sample. Patient must sign the consent form to perform the test.
Shipping Address Collection Staff Only Laboratory Use Only
Genomics For Life Collection Date: Collection Time: Rec. Date: Rec. Time: Unit 1 11 Parkview Street I certify that the blood specimen(s) accompanying this request was collected from the patient named Sample Type: Rec. By: above. I established the identity of this patient by direct inquiry and/or by inspection of wrist band and Milton QLD 4064 immediately upon the blood being drawn I labelled the specimen(s). Australia Collector’s Signature:
Testing performed by Genomics For Life. Accredited for compliance with NPAAC Standards and ISO 15189. NATA Accreditation No: 19325 Phone: 1800 445 433 Fax: 07 3054 4363 Email: [email protected] Web: genomicsforlife.com.au QAF-IDRF-03 10/09/2020