At Paternity For Life, we are following all advice provide by both the UK Government, local health authorities and the World Health Organization (WHO) and taking extra precautionary steps to ensure the health and safety of our laboratory staff and customer service team to minimise any disruption to testing
Please be advised our laboratory is still operational, and we are currently not experiencing any delays with processing of samples.
For our Legal Collection Appointments, Paternity For Life recommends using WJ Legal. WJ Legal is a Legal Forensic Sampling Company who can attend your home address for collection of your sample. All WJ Legal Sample Collectors are forensically aware and can safely and hygienically take all needed samples. Our collectors already enforce strict hygiene practices during collections but will be taking extra precautions over the coming weeks including the use of gloves, face masks and sterile wipes.
That being said, if you are experiencing any virus-like symptoms or have travelled overseas in the past 14 days, we recommend delaying your collection or rescheduling your appointment to a later date.
If you have any questions or concerns, please don’t hesitate to contact our friendly staff on 0330 133 1944
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 do not have any idea that they are carriers and have no family history or health symptoms due to the rarity of some diseases in the general population. Through Next Generation Sequencing (NGS) we are able to conduct Extended Carrier Screening (ECS), Extended Carrier Screening consists of a large panel that is able to analyse specific genes that are associated with hundreds of autosomal recessive and X-linked disorders to prospective parents in a general mixed population.
Paternity For Life offers a comprehensive Extended Carrier Screening test, providing prospective parents with the information they require when planning their pregnancy, it has also been recommended that extended carrier screening is offered to all women when planning a pregnancy, regardless of their geographic origin or family history. 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 Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome. If your gene of interest is not covered on our Extended Carrier Screening panel, please contact our friendly team to assist you in finding the gene test panel that suits your needs.
Approximately 1-2 of every 100 couples within the general population are at risk of being a carrier for an autosomal recessive genetic condition. 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 genetic condition.
Extended Carrier Screening prior to pregnancy enables couples to learn about their reproductive risk and consider the most complete range of reproductive options, including whether or not to become pregnant, use of 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.
At Paternity 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 laboratory handles your sample from start to finish.
Our Extended Carrier Screening enables detections of single nucleotide variants (SNVs), insertion/deletions (indels), and copy number variants (CNVs) over 419 genes associated with more than 700 unique commonly inherited diseases including the most common forms of inherited deafness, blindness, heart disease, immunodeficiency, and various ataxias, anaemias, and treatable metabolic syndromes. The assay has been developed to match genes targeted by clinical molecular geneticists studying inherited diseases, including genes listed in the NIH Genetic Test Registry. The clinical utility of this panel lies within the scope of pre-marital screening as well as pre-IVF screening. Please see below for a full list of genes covered on our Extended Carrier Screening panel and the associated genetic conditions.
An inherited disease is a disease or disorder caused by an abnormality in our DNA which affects cells throughout our body. The result of the abnormality can range from almost indistinguishable through to major problems. More than 6000 disorders are caused by changes in a single gene and are known as monogenic or Mendelian disorders, resulting in disease in about 1 in every 200 births.
Diseases are inherited in different ways, but many are inherited in what is called an “autosomal recessive” pattern, meaning that people that have one abnormal mutation will not have symptoms of the disease, rather being a “carrier” of that disease. If two carriers of an autosomal recessive disease have a child there is a 1/4 risk of the child being affected by that disease.
To have an autosomal recessive condition, you inherit two affected genes, one from each parent. These conditions are usually passed on by two carriers (biological mother and father). The parents’ health is rarely affected, but they have one affected gene (recessive gene) and one unaffected gene (dominant gene) for the genetic condition. There is a 25% chance of two carriers having an unaffected child with two unaffected genes, a 50% chance of having a child who also is a carrier but is unaffected by the genetic condition, and a 25% chance of having an affected child who inherits the two recessive genes.[6, 7]
X-linked genetic conditions, such as Fragile X Syndrome are caused by variants in genes located on the X chromosome. As males only have one X chromosome, they will be more affected by an X-linked condition in comparison to females, who have two X chromosomes. Females are more likely to be an asymptomatic carrier of an X-linked condition.
Paternity For Life is able to screen for Fragile X Syndrome. It is an inherited X-linked genetic condition that is known to cause a range of developmental problems (such as cognitive impairment and learning disabilities).[8, 9] It is estimated that only 1 in 4,000 males and 1 in 8,000 females are diagnosed with Fragile X syndrome, although it is a lot more common to be a carrier of the Fragile X Syndrome, with an estimated 1 in 150 females and 1 in 800 males being premutation carriers of the FMR1 gene. Fragile X Syndrome carriers are at risk of passing on the affected FMR1 gene to their children or grandchildren, resulting in Fragile X Syndrome.
In cases where there is a known family history of a disease, carrier testing is an important tool for family planning and can guide reproductive options. In some cases, prospective parents will discover that they do not carry the familial mutation and therefore have a reduced risk for having a child with the disease.
Genetic tests cannot detect all of the possible gene variants that could cause a disorder. This means that, even if you test negative, there is still a chance of having, or being a carrier of, one or more of the diseases associated with the genes which were tested. This is called Residual Risk. Please contact us for further information.
If prospective parents are both shown to be carriers of a genetic disorder, couples may choose to use assisted reproductive technologies such as IVF to become pregnant. Paternity For Life can then assist in screening embryos to reduce the risk of having an affected child. Paternity For Life recommends discussing all options with a genetic counsellor.
Paternity For Life aims to educate patients and their families about inherited diseases and their risk of inheritance, to empower them with the knowledge to take control of their health and treatment plans. As each patient’s case is unique, there is no “one size fits all” when it comes to testing. As inherited disease testing and the results from such tests can be complex, we also recommend you seek Genetic Counselling both prior to and after testing to help you understand your results and the implications they may have for both you and your family.
If you are ready to proceed with testing, a Testing Request Form can be downloaded from our website. We recommend you book an appointment with your doctor to discuss the testing and have your Request Form signed. You can then head to our website to submit your order and payment. Paternity For Life will then send a testing kit directly to your home address. All that is required for testing is a simple, painless mouth swab. Once we receive your sample we will begin testing. Results are typically available to your doctor within 14 working days.
|Achalasia-Addisonianism-Alacrima Syndrome||AAAS||Ellis-van Creveld Syndrome, EVC2-related||EVC2||Congenital Finnish Nephrosis||NPHS1|
|Harlequin ichthyosis||ABCA12||Pontocerebellar Hypoplasia, Type 1B||EXOSC3||Steroid-Resistant Nephrotic Syndrome||NPHS2|
|Stargardt Disease, Type 1||ABCA4||Retinitis Pigmentosa 25||EYS||Congenital Adrenal Hypoplasia, X-linked||NR0B1|
|Progressive Familial Intrahepatic Cholestasis, Type 2||ABCB11||Factor XI deficiency||F11||Enhanced S-Cone Syndrome||NR2E3|
|Progressive Familial Intrahepatic Cholestasis, Type 3||ABCB4||Prothrombin deficiency||F2||Congenital Insensitivity to Pain with Anhidrosis (CIPA)||NTRK1|
|Pseudoxanthoma elasticum||ABCC6||Hemophilia A||F8||Ornithine Aminotransferase Deficiency||OAT|
|Familial Hyperinsulinism, ABCC8-Related||ABCC8||Hemophilia B||F9||Lowe syndrome, X-Linked||OCRL|
|Adrenoleukodystrophy, X-Linked||ABCD1||Tyrosinemia, Type I||FAH||Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3)||OPA3|
|Mitochondrial Complex I Deficiency, ACAD9-Related||ACAD9||Retinitis Pigmentosa 28||FAM161A||Ornithine Transcarbamylase Deficiency||OTC|
|Medium Chain Acyl-CoA Dehydrogenase Deficiency||ACADM||Fanconi Anemia, Group A||FANCA||Phenylketonuria||PAH|
|Short Chain Acyl-CoA Dehydrogenase Deficiency||ACADS||Fanconi Anemia, Group C||FANCC||Pantothenate Kinase-Associated Neurodegeneration||PANK2|
|Short/branched chain acyl-CoA dehydrogenase||ACADSB||Fanconi Anemia, Group G||FANCG||Pyruvate Carboxylase Deficiency||PC|
|Very Long-Chain Acyl-CoA Dehydrogenase Deficiency||ACADVL||Fumarase Deficiency||FH||Propionic Acidemia, PCCA-Related||PCCA|
|Beta-Ketothiolase Deficiency||ACAT1||Limb-Girdle Muscular Dystrophy, Type 2I||FKRP||Propionic Acidemia, PCCB-Related||PCCB|
|Acyl-CoA Oxidase I Deficiency||ACOX1||Walker-Warburg Syndrome, FKTN-Related||FKTN||Usher Syndrome, Type 1F||PCDH15|
|Combined Malonic and Methylmalonic Aciduria||ACSF3||Glycogen Storage Disease, Type IA||G6PC||Pyruvate Dehydrogenase Deficiency, X-Linked||PDHA1|
|Severe Combined Immunodeficiency, ADA-Related||ADA||Glucose-6-Phosphate Dehydrogenase Deficiency*||G6PD||Pyruvate Dehydrogenase Deficiency, PDHB-Related||PDHB|
|Ehlers-Danlos Syndrome, Type VIIC||ADAMTS2||Glycogen Storage Disease, Type II (Pompe Disease)||GAA||Prolidase deficiency||PEPD|
|Bilateral Frontoparietal Polymicrogyria||ADGRG1||Krabbe Disease||GALC||Cytochrome-c oxidase deficiency||PET100|
|Aspartylglucosaminuria||AGA||Galactose epimerase deficiency||GALE||Peroxisome Biogenesis Disorder 1A (Zellweger)||PEX1|
|Glycogen Storage Disease, Type III (Cori/Forbes)||AGL||Galactokinase Deficiency (Galactosemia, Type II)||GALK1||Peroxisome Biogenesis Disorder 6A (Zellweger)||PEX10|
|Rhizomelic Chondrodysplasia Punctata, Type 3||AGPS||Mucopolysaccharidosis, Type IVA||GALNS||Peroxisome Biogenesis Disorder 3A (Zellweger)||PEX12|
|Hyperoxaluria, Primary, Type 1||AGXT||Hyperphosphatemic familial tumoral calcinosis||GALNT3||Peroxisome Biogenesis Disorder 5A (Zellweger)||PEX2|
|Autoimmune polyendocrinopathy syndrome, type I||AIRE||Galactosemia||GALT||Peroxisome Biogenesis Disorder 4A (Zellweger)||PEX6|
|Sjogren-Larsson Syndrome||ALDH3A2||Guanidinoacetate Methyltransferase Deficiency||GAMT||Rhizomelic Chondrodysplasia Punctata, Type 1||PEX7|
|Pyridoxine-dependent epilepsy||ALDH7A1||Gaucher Disease||GBA||Glycogen Storage Disease, Type VII||PFKM|
|Hereditary Fructose Intolerance||ALDOB||Glycogen Storage Disease, Type IV||GBE1||Phosphoglycerate Dehydrogenase Deficiency||PHGDH|
|Congenital Disorder of Glycosylation, Type 1C||ALG6||Glutaric Acidemia, Type 1||GCDH||Multiple congenital anomalies-hypotonia-seizures syndrome 1||PIGN|
|Alstrom Syndrome||ALMS1||Dopa-responsive dystonia||GCH1||Polycystic Kidney Disease, Autosomal Recessive||PKHD1|
|Hypophosphatasia, ALPL-Related||ALPL||Grebe syndrome||GDF5||Infantile neuroaxonal dystrophy 1||PLA2G6|
|Persistent Müllerian duct syndrome type 1||AMH||Combined Oxidative Phosphorylation Deficiency 1||GFM1||Congenital Disorder of Glycosylation, Type 1A, PMM2-Related||PMM2|
|Persistent Müllerian duct syndrome type 2||AMHR2||Isolated growth hormone deficiency, Type IA/II||GH1||Pyridoxal 5′-phosphate-dependent epilepsy||PNPO|
|Glycine Encephalopathy, AMT-Related||AMT||Isolated growth hormone deficiency, Type IB||GHRHR||POLG-Related Disorders||POLG|
|Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK)||AP1S1||Charcot-Marie-Tooth Disease with Deafness, X-Linked||GJB1||Xeroderma pigmentosum Variant||POLH|
|Familial Nephrogenic Diabetes Insipidus, AQP2-Related||AQP2||Non-Syndromic Hearing Loss (a.k.a. Connexin 26)||GJB2||Muscle-Eye-Brain Disease, POMGNT1-Related||POMGNT1|
|Androgen insensitivity syndrome, X-Linked||AR||Erythrokeratodermia variabilis et progressiva||GJB3||Cytochrome P450 oxidoreductase deficiency||POR|
|Argininemia||ARG1||Non-Syndromic Hearing Loss (a.k.a. Connexin 30)||GJB6||Ceroid Lipofuscinosis, Neuronal, 1||PPT1|
|Metachromatic Leukodystrophy, ARSA-Related||ARSA||Fabry Disease||GLA||Myasthenic syndrome, congenital, 22||PREPL|
|Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)||ARSB||Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis||GLB1||Combined Pituitary Hormone Deficiency 2||PROP1|
|Argininosuccinate Lyase Deficiency||ASL||Glycine Encephalopathy, GLDC-Related||GLDC||Arts syndrome, X-Linked||PRPS1|
|Asparagine Synthetase Deficiency||ASNS||Lethal Congenital Contracture Syndrome 1||GLE1||Metachromatic Leukodystrophy, PSAP-Related||PSAP|
|Canavan Disease||ASPA||Inclusion Body Myopathy 2||GNE||6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency||PTS|
|Citrullinemia, Type 1||ASS1||Mucolipidosis II/IIIA||GNPTAB||Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1)||PUS1|
|Ataxia-Telangiectasia||ATM||Mucolipidosis III gamma||GNPTG||Glycogen Storage Disease, Type V (McArdle Disease)||PYGM|
|Renal Tubular Acidosis and Deafness, ATP6V1B1-Related||ATP6V1B1||Mucopolysaccharidosis, Type IIID (Sanfilippo D)||GNS||Carpenter Syndrome||RAB23|
|Menkes Syndrome, X-Linked||ATP7A||Geroderma osteodysplastica||GORAB||Omenn Syndrome, RAG1-Related||RAG1|
|Wilson Disease||ATP7B||Bernard-Soulier Syndrome, Type A2||GP1BA||Omenn Syndrome, RAG2-Related||RAG2|
|Progressive Familial Intrahepatic Cholestasis, Type 1||ATP8B1||Bernard-Soulier Syndrome, Type B||GP1BB||Congenital Myasthenic Syndrome, RAPSN-Related||RAPSN|
|Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked||ATRX||Bernard-Soulier Syndrome, Type C||GP9||Pontocerebellar Hypoplasia, Type 1 and 6, RARS2-Related||RARS2|
|Bardet-Biedl Syndrome 1||BBS1||Primary Hyperoxaluria, Type 2||GRHPR||Leber Congenital Amaurosis, Type RDH12||RDH12|
|Bardet-Biedl Syndrome 10||BBS10||Leber congenital amaurosis 1||GUCY2D||Retinal Dystrophies, RLBP1-Associated||RLBP1|
|Bardet-Biedl Syndrome 12||BBS12||Mucopolysaccharidosis, Type VII||GUSB||Cartilage-Hair Hypoplasia||RMRP|
|Bardet-Biedl Syndrome 2||BBS2||Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency||HADHA||Aicardi-Goutieres syndrome, RNASEH2C-related||RNASEH2C|
|Bardet-Biedl Syndrome 4||BBS4||Trifunctional protein deficiency||HADHB||Leber Congenital Amaurosis 2||RPE65|
|Bardet-Biedl Syndrome 9||BBS9||Congenital Neutropenia, HAX1-Related||HAX1||Ciliopathies, RPGRIP1L-Related||RPGRIP1L|
|Pseudocholinesterase Deficiency||BCHE||Alpha-Thalassemia||HBA1||Juvenile Retinoschisis, X-Linked||RS1|
|Maple Syrup Urine Disease, Type 1A||BCKDHA||Alpha-Thalassemia||HBA2||Dyskeratosis Congenita, RTEL1-Related||RTEL1|
|Maple Syrup Urine Disease, Type 1B||BCKDHB||Beta-Hemoglobinopathies||HBB||Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay||SACS|
|GRACILE Syndrome||BCS1L||Tay-Sachs Disease||HEXA||MIRAGE syndrome||SAMD9|
|Bloom Syndrome||BLM||Sandhoff Disease||HEXB||Aicardi-Goutières Syndrome||SAMHD1|
|Fanconi anemia, Group J||BRIP1||Hemochromatosis, Type 1||HFE||Shwachman-Diamond syndrome||SBDS|
|Bartter syndrome, Type 4a||BSND||Hemochromatosis, Type 2A||HFE2||Pontocerebellar Hypoplasia, Type 2D||SEPSECS|
|Biotinidase Deficiency||BTD||Alkaptonuria||HGD||Alpha-1-Antitrypsin Deficiency||SERPINA1|
|Isolated growth hormone deficiency, Type III, X-linked||BTK||Mucopolysaccharidosis, Type IIIC (Sanfilippo C)||HGSNAT||Limb-Girdle Muscular Dystrophy, Type 2D||SGCA|
|Desbuquois dysplasia 1||CANT1||Holocarboxylase Synthetase Deficiency||HLCS||Limb-Girdle Muscular Dystrophy, Type 2E||SGCB|
|Limb-Girdle Muscular Dystrophy, Type 2A||CAPN3||3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency||HMGCL||Limb-Girdle Muscular Dystrophy, Type 2F||SGCD|
|Catecholaminergic polymorphic ventricular tachycardia||CASQ2||Heme Oxygenase-1 Deficiency||HMOX1||Limb-Girdle Muscular Dystrophy, Type 2C||SGCG|
|Homocystinuria, CBS-Related||CBS||Primary Hyperoxaluria, Type 3||HOGA1||Mucopolysaccharidosis, Type IIIA (Sanfilippo A)||SGSH|
|Mental retardation, autosomal recessive 3||CC2D1A||Tyrosinemia, Type III||HPD||Gitelman Syndrome||SLC12A3|
|Usher Syndrome, Type 1D||CDH23||Hermansky-Pudlak Syndrome 1||HPS1||Agenesis of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome)||SLC12A6|
|Leber Congenital Amaurosis, Type CEP290||CEP290||Hermansky-Pudlak Syndrome 3||HPS3||Salla Disease||SLC17A5|
|Retinitis Pigmentosa 26||CERKL||Hermansky-Pudlak syndrome 4||HPS4||Megaloblastic Anemia Syndrome||SLC19A2|
|Cystic Fibrosis||CFTR||17-beta hydroxysteroid dehydrogenase 3 deficiency||HSD17B3||Carnitine Deficiency||SLC22A5|
|Choroideremia, X-Linked||CHM||D-Bifunctional Protein Deficiency||HSD17B4||Citrullinemia, Type II||SLC25A13|
|Congenital Myasthenic Syndrome, CHRNE-Related||CHRNE||3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency||HSD3B2||Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome||SLC25A15|
|Escobar Syndrome||CHRNG||Hydrolethalus Syndrome||HYLS1||Carnitine-acylcarnitine translocase deficiency||SLC25A20|
|Bare Lymphocyte Syndrome, CIITA-Related||CIITA||Mucopolysaccharidosis, Type II (Hunter Syndrome)||IDS||Achondrogenesis, Type 1B||SLC26A2|
|Ceroid Lipofuscinosis, Neuronal, 3||CLN3||Mucopolysaccharidosis, Type I (Hurler Syndrome)||IDUA||Congenital Chloride Diarrhea||SLC26A3|
|Ceroid Lipofuscinosis, Neuronal, 5||CLN5||Severe Combined Immunodeficiency, X-Linked||IL2RG||Pendred Syndrome||SLC26A4|
|Ceroid Lipofuscinosis, Neuronal, 6||CLN6||Glanzmann thrombasthenia||ITGB3||Autism Spectrum, Epilepsy and Arthrogryposis||SLC35A3|
|Ceroid Lipofuscinosis, Neuronal, 8 (a.ka. Northern Epilepsy)||CLN8||Isovaleric Acidemia||IVD||Glycogen Storage Disease, Type IB||SLC37A4|
|Usher Syndrome, Type 3||CLRN1||Congenital Hyperinsulinism, KCNJ11-Related||KCNJ11||Acrodermatitis Enteropathica||SLC39A4|
|Achromatopsia, CNGA3-Related||CNGA3||LAMA2-related Muscular Dystrophy||LAMA2||Cystinuria, Type A||SLC3A1|
|Achromatopsia, CNGB3-Related||CNGB3||Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related||LAMA3||Oculocutaneous albinism, Type 4||SLC45A2|
|Fibrochondrogenesis type 2||COL11A2||Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related||LAMB3||Corneal Dystrophy and Perceptive Deafness||SLC4A11|
|Alport Syndrome, COL4A3-Related||COL4A3||Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related||LAMC2||Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked)||SLC6A8|
|Alport Syndrome, COL4A4-Related||COL4A4||Leber Congenital Amaurosis, Type LCA5||LCA5||Lysinuric Protein Intolerance||SLC7A7|
|Alport Syndrome, X-Linked||COL4A5||Familial Hypercholesterolemia, LDLR-Related||LDLR||Cystinuria, Type B||SLC7A9|
|Dystrophic Epidermolysis Bullosa, COL7A1-Related||COL7A1||Familial Hypercholesterolemia, LDLRAP1-Related||LDLRAP1||Schimke Immunoosseous Dysplasia||SMARCAL1|
|Carbamoyl Phosphate Synthetase I Deficiency||CPS1||Leydig cell hypoplasia||LHCGR||Spinal Muscular Atrophy||SMN1|
|Carnitine Palmitoyltransferase IA Deficiency||CPT1A||Stuve-Wiedemann Syndrome||LIFR||Niemann-Pick Disease, Types A/B||SMPD1|
|Carnitine Palmitoyltransferase II Deficiency||CPT2||Lysosomal Acid Lipase Deficiency||LIPA||5-alpha reductase deficiency||SRD5A2|
|Leber congenital amaurosis 8||CRB1||Woolly Hair/Hypotrichosis Syndrome||LIPH||GM3 synthase deficiency||ST3GAL5|
|Cystinosis||CTNS||Deafness, Autosomal Recessive 77||LOXHD1||Lipoid Congenital Adrenal Hyperplasia||STAR|
|Papillon-Lefevre Syndrome||CTSC||Lipoprotein Lipase Deficiency||LPL||Deafness, autosomal recessive 16||STRC|
|Ceroid Lipofuscinosis, Neuronal, 10 (CLN10 Disease)||CTSD||Leigh Syndrome, French-Canadian Type||LRPPRC||Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)||SUCLA2|
|Pycnodysostosis||CTSK||Chediak-Higashi syndrome||LYST||Multiple Sulfatase Deficiency||SUMF1|
|Chronic Granulomatous Disease, CYBA-Related||CYBA||Alpha-Mannosidosis||MAN2B1||Leigh Syndrome||SURF1|
|Chronic Granulomatous Disease, X-Linked||CYBB||Hypermethioninemia||MAT1A||Tyrosinemia, Type II||TAT|
|Congenital Adrenal Hyperplasia, 11-beta-hydroxylase-deficient||CYP11B1||3-Methylcrotonyl-CoA Carboxylase 1 Deficiency||MCCC1||Osteopetrosis, Infantile Malignant, TCIRG1-Related||TCIRG1|
|Corticosterone Methyloxidase Deficiency||CYP11B2||3-Methylcrotonyl-CoA Carboxylase 2 Deficiency||MCCC2||Hereditary Spastic Paraparesis, Type 49||TECPR2|
|Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency||CYP17A1||Mucolipidosis, Type IV||MCOLN1||Hemochromatosis, Type 3, TFR2-Related||TFR2|
|Aromatase Deficiency||CYP19A1||RETT Syndrome||MECP2||Lamellar Ichthyosis, Type 1||TGM1|
|Primary Congenital Glaucoma||CYP1B1||Microcephaly, postnatal progressive, with seizures and brain atrophy||MED17||Segawa Syndrome, TH-Related||TH|
|Congenital Adrenal Hyperplasia, 21-hydroxylase-deficient||CYP21A2||Familial Mediterranean Fever||MEFV||Deafness, autosomal dominant 36, autosomal recessive 7||TMC1|
|Cerebrotendinous Xanthomatosis||CYP27A1||Spondylothoracic Dysostosis, MESP2-Related||MESP2||Joubert Syndrome 2 / Meckel Syndrome 2||TMEM216|
|Vitamin D-dependent rickets type 1A||CYP27B1||Ceroid Lipofuscinosis, Neuronal, 7||MFSD8||Congenital hypothyroidism||TPO|
|Maple Syrup Urine Disease, Type 2||DBT||Bardet-Biedl Syndrome 6||MKKS||Ceroid Lipofuscinosis, Neuronal, 2||TPP1|
|Severe Combined Immunodeficiency, Type Athabaskan||DCLRE1C||Meckel-Gruber Syndrome, Type 1||MKS1||Aicardi-Goutieres Syndrome, TREX1-related||TREX1|
|Xeroderma Pigmentosum Group E||DDB2||Megalencephalic Leukoencephalopathy with Subcortical Cysts||MLC1||Bardet-Biedl syndrome 11||TRIM32|
|Smith-Lemli-Opitz Syndrome||DHCR7||Malonyl-CoA decarboxylase deficiency||MLYCD||Mulibrey nanism syndrome||TRIM37|
|Retinitis Pigmentosa 59||DHDDS||Methylmalonic Aciduria, MMAA-Related||MMAA||Acute Infantile Liver Failure, TRMU-Related||TRMU|
|Dyskeratosis congenita, X-Linked||DKC1||Methylmalonic Aciduria, MMAB-Related||MMAB||Pontocerebellar hypoplasia||TSEN54|
|Dihydrolipoamide Dehydrogenase Deficiency||DLD||Methylmalonic Aciduria and Homocystinuria, Type cblC||MMACHC||Combined Oxidative Phosphorylation Deficiency 3||TSFM|
|Duchenne/Becker Muscular Dystrophy||DMD||Methylmalonic Aciduria and Homocystinuria, Type cblD||MMADHC||Congenital hypothyroidism||TSHB|
|Ciliary Dyskinesia, Primary 3||DNAH5||Molybdenum cofactor deficiency||MOCS1||Hypothyroidism, congenital, nongoitrous, 1||TSHR|
|Ciliary Dyskinesia, Primary 1||DNAI1||Congenital Disorder of Glycosylation, Type 1B||MPI||Tricho-Hepato-Enteric Syndrome||TTC37|
|Ciliary Dyskinesia, Primary 9||DNAI2||Congenital Amegakaryocytic Thrombocytopenia||MPL||Familial dilated cardiomyopathy||TTN|
|Ciliary Dyskinesia, Primary, 16||DNAL1||Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related||MPV17||Ataxia with Vitamin E Deficiency||TTPA|
|Congenital Myasthenic Syndrome, DOK7-Related||DOK7||Ataxia-telangiectasia-like disorder 1||MRE11||Myoneurogastrointestinal Encephalopathy (MNGIE)||TYMP|
|Dihydropyrimidine Dehydrogenase Deficiency||DPYD||Homocystinuria due to Deficiency of MTHFR||MTHFR||Oculocutaneous Albinism, Type 1||TYR|
|Limb-Girdle Muscular Dystrophy, Type 2B||DYSF||Myotubular Myopathy, X-Linked||MTM1||Oculocutaneous albinism, Type 3||TYRP1|
|Hypohidrotic Ectodermal Dysplasia, X-Linked||EDA||Homocystinuria, Type cblE||MTRR||Crigler-Najjar Syndrome||UGT1A1|
|Hypohidrotic Ectodermal Dysplasia||EDAR||Abetalipoproteinemia||MTTP||Beta-ureidopropionase deficiency||UPB1|
|Wolcott-Rallison Syndrome||EIF2AK3||Methylmalonic Aciduria, Type mut(0)||MUT||Usher Syndrome, Type 1C||USH1C|
|Leukoencephalopathy with Vanishing White Matter||EIF2B5||Deafness, autosomal recessive, 3||MYO15A||Usher Syndrome, Type 2A||USH2A|
|Dysautonomia, familial||ELP1||Usher Syndrome, Type 1B||MYO7A||Choreo-acanthocytosis||VPS13A|
|Emery-Dreifuss Muscular Dystrophy 1, X-Linked||EMD||Mucopolysaccharidosis, Type IIIB (Sanfilippo B)||NAGLU||Cohen Syndrome||VPS13B|
|Xeroderma Pigmentosum Group D||ERCC2||N-acetylglutamate Synthase Deficiency||NAGS||Congenital Neutropenia, VPS45-Related||VPS45|
|Xeroderma Pigmentosum Group B||ERCC3||Nijmegen Breakage Syndrome||NBN||Pontocerebellar Hypoplasia, Type 2E||VPS53|
|Xeroderma Pigmentosum Group F||ERCC4||Charcot-Marie-Tooth Disease type 4D||NDRG1||Pontocerebellar Hypoplasia, Type 1A||VRK1|
|Xeroderma pigmentosum Group G||ERCC5||Mitochondrial Complex I Deficiency, NDUFAF5-Related||NDUFAF5||Microphthalmia/Anophthalmia, VSX2-Related||VSX2|
|Cockayne syndrome, type B||ERCC6||Mitochondrial complex I deficiency||NDUFS4||Von Willebrand disease||VWF|
|Cockayne syndrome, type A||ERCC8||Mitochondrial Complex I Deficiency, NDUFS6-Related||NDUFS6||Wiskott-Aldrich syndrome, X-Linked||WAS|
|Roberts Syndrome||ESCO2||Nemaline Myopathy, NEB-Related||NEB||Progressive Pseudorheumatoid Dysplasia||WISP3|
|Glutaric Acidemia, Type 2A||ETFA||Sialidosis||NEU1||Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome||WNT10A|
|Glutaric Acidemia, Type 2B||ETFB||Hydatidiform Mole, Recurrent||NLRP7||Werner Syndrome||WRN|
|Glutaric Acidemia, Type 2C||ETFDH||Niemann-Pick Disease, Type C1/D||NPC1||Xeroderma pigmentosum Group A||XPA|
|Ethylmalonic Encephalopathy||ETHE1||Niemann-Pick Disease, Type C2||NPC2||Xeroderma Pigmentosum Group C||XPC|
|Ellis-van Creveld Syndrome, EVC-Related||EVC||Juvenile Nephronophthisis||NPHP1||Spastic Paraplegia Type 15||ZFYVE26|
Testing targets specific gene mutations and does not detect mutations that are outside of the targeted area. Testing does not completely sequence every exon of each one of the genes. For Ion Torrent sequencing, the limit of detection is 5% at 500X coverage and 10% at 200X coverage. The limit of detection for sequencing is ~1%. For medical practitioners seeking further technical information regarding the assay, please contact Paternity For Life. For medical practitioners seeking further technical information regarding the assay, please contact Paternity For Life.
The Extended Carrier Screening Panel provides comprehensive coverage of common and rare variants to help achieve higher per-disorder detection rate. The panel targets >14,000 amplicons that cover all coding regions of 420 target genes, including intron/exon boundaries, to genotype more than 28,000 SNVs and indels from the ClinVar archive of human variation. The panel also provides robust targeting for CNV analysis to maximise carrier status detection. Genetic variants for a number of the most prevalent yet serious disorders can be difficult to resolve by NGS assays, and so separate additional stand-alone tests are often required. The Extended Carrier Screening Panel consolidates such stand-alone assays into a single assay, including difficult-to-sequence genes, such as SMN1 for spinal muscular atrophy, GBA for Gaucher disease, CYP21A2 for 21-hydroxylase deficient congenital adrenal hyperplasia, and HBA1 and HBA2 for alpha thalassemia.
Site Design, SEO, SEM and Management by Optimised