Paternity For Life

Extended 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 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.[1]

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.[2] Extended Carrier Screening has been shown to detect carriers who would not have been considered candidates for traditional risk-based screening.[3] With a simple mouth swab collection, we are able to test for 420 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.

Why do genetic testing with Paternity For Life?

Approximately 1-2 of every 100 couples within the general population are at risk of being a carrier for an autosomal recessive genetic condition.[5] 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.

What genetic conditions are tested by the Extended Carrier Screening?

Our Extended Carrier Screening enables detections of single nucleotide variants (SNVs), insertion/deletions (indels), and copy number variants (CNVs) in 420 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.

My partner and I don’t have any diseases, how can we pass it on to our children?

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.[4]

What is an autosomal recessive condition?

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]

What is an X-linked genetic condition?

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.[6]

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.[10] Fragile X Syndrome carriers are at risk of passing on the affected FMR1 gene to their children or grandchildren, resulting in Fragile X Syndrome.[10]

We have a family history of a particular disease, should we be tested?

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.

If our results are negative does that mean our child will not be affected by a disease on this panel?

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 my results show that both my partner and I are carriers, what can we do?

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.

Ready to take control of your pregnancy?

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 21 working days.

How to Organise Testing?

  1. Download our request form.
  2. Book an appointment with your doctor or healthcare professional to discuss the testing and have the request form signed.
  3. Head to our simple, easy-to-use order page to order your test.
  4. Paternity For Life will send you a testing kit for collection of your sample.
  5. Your personalised report is issued to your health care provider in 21 working days.
Achalasia-Addisonianism-Alacrima SyndromeAAASEllis-van Creveld Syndrome, EVC2-relatedEVC2Congenital Finnish NephrosisNPHS1
Harlequin ichthyosisABCA12Pontocerebellar Hypoplasia, Type 1BEXOSC3Steroid-Resistant Nephrotic SyndromeNPHS2
Stargardt Disease, Type 1ABCA4Retinitis Pigmentosa 25EYSCongenital Adrenal Hypoplasia, X-linkedNR0B1
Progressive Familial Intrahepatic Cholestasis, Type 2ABCB11Factor XI deficiencyF11Enhanced S-Cone SyndromeNR2E3
Progressive Familial Intrahepatic Cholestasis, Type 3ABCB4Prothrombin deficiencyF2Congenital Insensitivity to Pain with Anhidrosis (CIPA)NTRK1
Pseudoxanthoma elasticumABCC6Hemophilia AF8Ornithine Aminotransferase DeficiencyOAT
Familial Hyperinsulinism, ABCC8-RelatedABCC8Hemophilia BF9Lowe syndrome, X-LinkedOCRL
Adrenoleukodystrophy, X-LinkedABCD1Tyrosinemia, Type IFAHCosteff Syndrome (3-Methylglutaconic Aciduria, Type 3)OPA3
Mitochondrial Complex I Deficiency, ACAD9-RelatedACAD9Retinitis Pigmentosa 28FAM161AOrnithine Transcarbamylase DeficiencyOTC
Medium Chain Acyl-CoA Dehydrogenase DeficiencyACADMFanconi Anemia, Group AFANCAPhenylketonuriaPAH
Short Chain Acyl-CoA Dehydrogenase DeficiencyACADSFanconi Anemia, Group CFANCCPantothenate Kinase-Associated NeurodegenerationPANK2
Short/branched chain acyl-CoA dehydrogenaseACADSBFanconi Anemia, Group GFANCGPyruvate Carboxylase DeficiencyPC
Very Long-Chain Acyl-CoA Dehydrogenase DeficiencyACADVLFumarase DeficiencyFHPropionic Acidemia, PCCA-RelatedPCCA
Beta-Ketothiolase DeficiencyACAT1Limb-Girdle Muscular Dystrophy, Type 2IFKRPPropionic Acidemia, PCCB-RelatedPCCB
Acyl-CoA Oxidase I DeficiencyACOX1Walker-Warburg Syndrome, FKTN-RelatedFKTNUsher Syndrome, Type 1FPCDH15
Combined Malonic and Methylmalonic AciduriaACSF3Glycogen Storage Disease, Type IAG6PCPyruvate Dehydrogenase Deficiency, X-LinkedPDHA1
Severe Combined Immunodeficiency, ADA-RelatedADAGlucose-6-Phosphate Dehydrogenase Deficiency*G6PDPyruvate Dehydrogenase Deficiency, PDHB-RelatedPDHB
Ehlers-Danlos Syndrome, Type VIICADAMTS2Glycogen Storage Disease, Type II (Pompe Disease)GAAProlidase deficiencyPEPD
Bilateral Frontoparietal PolymicrogyriaADGRG1Krabbe DiseaseGALCCytochrome-c oxidase deficiencyPET100
AspartylglucosaminuriaAGAGalactose epimerase deficiencyGALEPeroxisome Biogenesis Disorder 1A (Zellweger)PEX1
Glycogen Storage Disease, Type III (Cori/Forbes)AGLGalactokinase Deficiency (Galactosemia, Type II)GALK1Peroxisome Biogenesis Disorder 6A (Zellweger)PEX10
Rhizomelic Chondrodysplasia Punctata, Type 3AGPSMucopolysaccharidosis, Type IVAGALNSPeroxisome Biogenesis Disorder 3A (Zellweger)PEX12
Hyperoxaluria, Primary, Type 1AGXTHyperphosphatemic familial tumoral calcinosisGALNT3Peroxisome Biogenesis Disorder 5A (Zellweger)PEX2
Autoimmune polyendocrinopathy syndrome, type IAIREGalactosemiaGALTPeroxisome Biogenesis Disorder 4A (Zellweger)PEX6
Sjogren-Larsson SyndromeALDH3A2Guanidinoacetate Methyltransferase DeficiencyGAMTRhizomelic Chondrodysplasia Punctata, Type 1PEX7
Pyridoxine-dependent epilepsyALDH7A1Gaucher DiseaseGBAGlycogen Storage Disease, Type VIIPFKM
Hereditary Fructose IntoleranceALDOBGlycogen Storage Disease, Type IVGBE1Phosphoglycerate Dehydrogenase DeficiencyPHGDH
Congenital Disorder of Glycosylation, Type 1CALG6Glutaric Acidemia, Type 1GCDHMultiple congenital anomalies-hypotonia-seizures syndrome 1PIGN
Alstrom SyndromeALMS1Dopa-responsive dystoniaGCH1Polycystic Kidney Disease, Autosomal RecessivePKHD1
Hypophosphatasia, ALPL-RelatedALPLGrebe syndromeGDF5Infantile neuroaxonal dystrophy 1PLA2G6
Persistent Müllerian duct syndrome type 1AMHCombined Oxidative Phosphorylation Deficiency 1GFM1Congenital Disorder of Glycosylation, Type 1A, PMM2-RelatedPMM2
Persistent Müllerian duct syndrome type 2AMHR2Isolated growth hormone deficiency, Type IA/IIGH1Pyridoxal 5′-phosphate-dependent epilepsyPNPO
Glycine Encephalopathy, AMT-RelatedAMTIsolated growth hormone deficiency, Type IBGHRHRPOLG-Related DisordersPOLG
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK)AP1S1Charcot-Marie-Tooth Disease with Deafness, X-LinkedGJB1Xeroderma pigmentosum VariantPOLH
Familial Nephrogenic Diabetes Insipidus, AQP2-RelatedAQP2Non-Syndromic Hearing Loss (a.k.a. Connexin 26)GJB2Muscle-Eye-Brain Disease, POMGNT1-RelatedPOMGNT1
Androgen insensitivity syndrome, X-LinkedARErythrokeratodermia variabilis et progressivaGJB3Cytochrome P450 oxidoreductase deficiencyPOR
ArgininemiaARG1Non-Syndromic Hearing Loss (a.k.a. Connexin 30)GJB6Ceroid Lipofuscinosis, Neuronal, 1PPT1
Metachromatic Leukodystrophy, ARSA-RelatedARSAFabry DiseaseGLAMyasthenic syndrome, congenital, 22PREPL
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)ARSBMucopolysaccharidosis, Type IVB / GM1 GangliosidosisGLB1Combined Pituitary Hormone Deficiency 2PROP1
Argininosuccinate Lyase DeficiencyASLGlycine Encephalopathy, GLDC-RelatedGLDCArts syndrome, X-LinkedPRPS1
Asparagine Synthetase DeficiencyASNSLethal Congenital Contracture Syndrome 1GLE1Metachromatic Leukodystrophy, PSAP-RelatedPSAP
Canavan DiseaseASPAInclusion Body Myopathy 2GNE6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) DeficiencyPTS
Citrullinemia, Type 1ASS1Mucolipidosis II/IIIAGNPTABMitochondrial Myopathy and Sideroblastic Anemia (MLASA1)PUS1
Ataxia-TelangiectasiaATMMucolipidosis III gammaGNPTGGlycogen Storage Disease, Type V (McArdle Disease)PYGM
Renal Tubular Acidosis and Deafness, ATP6V1B1-RelatedATP6V1B1Mucopolysaccharidosis, Type IIID (Sanfilippo D)GNSCarpenter SyndromeRAB23
Menkes Syndrome, X-LinkedATP7AGeroderma osteodysplasticaGORABOmenn Syndrome, RAG1-RelatedRAG1
Wilson DiseaseATP7BBernard-Soulier Syndrome, Type A2GP1BAOmenn Syndrome, RAG2-RelatedRAG2
Progressive Familial Intrahepatic Cholestasis, Type 1ATP8B1Bernard-Soulier Syndrome, Type BGP1BBCongenital Myasthenic Syndrome, RAPSN-RelatedRAPSN
Alpha-Thalassemia Intellectual Disability Syndrome, X-LinkedATRXBernard-Soulier Syndrome, Type CGP9Pontocerebellar Hypoplasia, Type 1 and 6, RARS2-RelatedRARS2
Bardet-Biedl Syndrome 1BBS1Primary Hyperoxaluria, Type 2GRHPRLeber Congenital Amaurosis, Type RDH12RDH12
Bardet-Biedl Syndrome 10BBS10Leber congenital amaurosis 1GUCY2DRetinal Dystrophies, RLBP1-AssociatedRLBP1
Bardet-Biedl Syndrome 12BBS12Mucopolysaccharidosis, Type VIIGUSBCartilage-Hair HypoplasiaRMRP
Bardet-Biedl Syndrome 2BBS2Long Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyHADHAAicardi-Goutieres syndrome, RNASEH2C-relatedRNASEH2C
Bardet-Biedl Syndrome 4BBS4Trifunctional protein deficiencyHADHBLeber Congenital Amaurosis 2RPE65
Bardet-Biedl Syndrome 9BBS9Congenital Neutropenia, HAX1-RelatedHAX1Ciliopathies, RPGRIP1L-RelatedRPGRIP1L
Pseudocholinesterase DeficiencyBCHEAlpha-ThalassemiaHBA1Juvenile Retinoschisis, X-LinkedRS1
Maple Syrup Urine Disease, Type 1ABCKDHAAlpha-ThalassemiaHBA2Dyskeratosis Congenita, RTEL1-RelatedRTEL1
Maple Syrup Urine Disease, Type 1BBCKDHBBeta-HemoglobinopathiesHBBAutosomal Recessive Spastic Ataxia of Charlevoix-SaguenaySACS
GRACILE SyndromeBCS1LTay-Sachs DiseaseHEXAMIRAGE syndromeSAMD9
Bloom SyndromeBLMSandhoff DiseaseHEXBAicardi-Goutières SyndromeSAMHD1
Fanconi anemia, Group JBRIP1Hemochromatosis, Type 1HFEShwachman-Diamond syndromeSBDS
Bartter syndrome, Type 4aBSNDHemochromatosis, Type 2AHFE2Pontocerebellar Hypoplasia, Type 2DSEPSECS
Biotinidase DeficiencyBTDAlkaptonuriaHGDAlpha-1-Antitrypsin DeficiencySERPINA1
Isolated growth hormone deficiency, Type III, X-linkedBTKMucopolysaccharidosis, Type IIIC (Sanfilippo C)HGSNATLimb-Girdle Muscular Dystrophy, Type 2DSGCA
Desbuquois dysplasia 1CANT1Holocarboxylase Synthetase DeficiencyHLCSLimb-Girdle Muscular Dystrophy, Type 2ESGCB
Limb-Girdle Muscular Dystrophy, Type 2ACAPN33-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase DeficiencyHMGCLLimb-Girdle Muscular Dystrophy, Type 2FSGCD
Catecholaminergic polymorphic ventricular tachycardiaCASQ2Heme Oxygenase-1 DeficiencyHMOX1Limb-Girdle Muscular Dystrophy, Type 2CSGCG
Homocystinuria, CBS-RelatedCBSPrimary Hyperoxaluria, Type 3HOGA1Mucopolysaccharidosis, Type IIIA (Sanfilippo A)SGSH
Mental retardation, autosomal recessive 3CC2D1ATyrosinemia, Type IIIHPDGitelman SyndromeSLC12A3
Usher Syndrome, Type 1DCDH23Hermansky-Pudlak Syndrome 1HPS1Agenesis of the Corpus Callosum with Peripheral Neuropathy (Andermann Syndrome)SLC12A6
Leber Congenital Amaurosis, Type CEP290CEP290Hermansky-Pudlak Syndrome 3HPS3Salla DiseaseSLC17A5
Retinitis Pigmentosa 26CERKLHermansky-Pudlak syndrome 4HPS4Megaloblastic Anemia SyndromeSLC19A2
Cystic FibrosisCFTR17-beta hydroxysteroid dehydrogenase 3 deficiencyHSD17B3Carnitine DeficiencySLC22A5
Choroideremia, X-LinkedCHMD-Bifunctional Protein DeficiencyHSD17B4Citrullinemia, Type IISLC25A13
Congenital Myasthenic Syndrome, CHRNE-RelatedCHRNE3-Beta-Hydroxysteroid Dehydrogenase Type II DeficiencyHSD3B2Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) SyndromeSLC25A15
Escobar SyndromeCHRNGHydrolethalus SyndromeHYLS1Carnitine-acylcarnitine translocase deficiencySLC25A20
Bare Lymphocyte Syndrome, CIITA-RelatedCIITAMucopolysaccharidosis, Type II (Hunter Syndrome)IDSAchondrogenesis, Type 1BSLC26A2
Ceroid Lipofuscinosis, Neuronal, 3CLN3Mucopolysaccharidosis, Type I (Hurler Syndrome)IDUACongenital Chloride DiarrheaSLC26A3
Ceroid Lipofuscinosis, Neuronal, 5CLN5Severe Combined Immunodeficiency, X-LinkedIL2RGPendred SyndromeSLC26A4
Ceroid Lipofuscinosis, Neuronal, 6CLN6Glanzmann thrombastheniaITGB3Autism Spectrum, Epilepsy and ArthrogryposisSLC35A3
Ceroid Lipofuscinosis, Neuronal, 8 (a.ka. Northern Epilepsy)CLN8Isovaleric AcidemiaIVDGlycogen Storage Disease, Type IBSLC37A4
Usher Syndrome, Type 3CLRN1Congenital Hyperinsulinism, KCNJ11-RelatedKCNJ11Acrodermatitis EnteropathicaSLC39A4
Achromatopsia, CNGA3-RelatedCNGA3LAMA2-related Muscular DystrophyLAMA2Cystinuria, Type ASLC3A1
Achromatopsia, CNGB3-RelatedCNGB3Herlitz Junctional Epidermolysis Bullosa, LAMA3-RelatedLAMA3Oculocutaneous albinism, Type 4SLC45A2
Fibrochondrogenesis type 2COL11A2Herlitz Junctional Epidermolysis Bullosa, LAMB3-RelatedLAMB3Corneal Dystrophy and Perceptive DeafnessSLC4A11
Alport Syndrome, COL4A3-RelatedCOL4A3Herlitz Junctional Epidermolysis Bullosa, LAMC2-RelatedLAMC2Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked)SLC6A8
Alport Syndrome, COL4A4-RelatedCOL4A4Leber Congenital Amaurosis, Type LCA5LCA5Lysinuric Protein IntoleranceSLC7A7
Alport Syndrome, X-LinkedCOL4A5Familial Hypercholesterolemia, LDLR-RelatedLDLRCystinuria, Type BSLC7A9
Dystrophic Epidermolysis Bullosa, COL7A1-RelatedCOL7A1Familial Hypercholesterolemia, LDLRAP1-RelatedLDLRAP1Schimke Immunoosseous DysplasiaSMARCAL1
Carbamoyl Phosphate Synthetase I DeficiencyCPS1Leydig cell hypoplasiaLHCGRSpinal Muscular AtrophySMN1
Carnitine Palmitoyltransferase IA DeficiencyCPT1AStuve-Wiedemann SyndromeLIFRNiemann-Pick Disease, Types A/BSMPD1
Carnitine Palmitoyltransferase II DeficiencyCPT2Lysosomal Acid Lipase DeficiencyLIPA5-alpha reductase deficiencySRD5A2
Leber congenital amaurosis 8CRB1Woolly Hair/Hypotrichosis SyndromeLIPHGM3 synthase deficiencyST3GAL5
CystinosisCTNSDeafness, Autosomal Recessive 77LOXHD1Lipoid Congenital Adrenal HyperplasiaSTAR
Papillon-Lefevre SyndromeCTSCLipoprotein Lipase DeficiencyLPLDeafness, autosomal recessive 16STRC
Ceroid Lipofuscinosis, Neuronal, 10 (CLN10 Disease)CTSDLeigh Syndrome, French-Canadian TypeLRPPRCMitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)SUCLA2
PycnodysostosisCTSKChediak-Higashi syndromeLYSTMultiple Sulfatase DeficiencySUMF1
Chronic Granulomatous Disease, CYBA-RelatedCYBAAlpha-MannosidosisMAN2B1Leigh SyndromeSURF1
Chronic Granulomatous Disease, X-LinkedCYBBHypermethioninemiaMAT1ATyrosinemia, Type IITAT
Congenital Adrenal Hyperplasia, 11-beta-hydroxylase-deficientCYP11B13-Methylcrotonyl-CoA Carboxylase 1 DeficiencyMCCC1Osteopetrosis, Infantile Malignant, TCIRG1-RelatedTCIRG1
Corticosterone Methyloxidase DeficiencyCYP11B23-Methylcrotonyl-CoA Carboxylase 2 DeficiencyMCCC2Hereditary Spastic Paraparesis, Type 49TECPR2
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase DeficiencyCYP17A1Mucolipidosis, Type IVMCOLN1Hemochromatosis, Type 3, TFR2-RelatedTFR2
Aromatase DeficiencyCYP19A1RETT SyndromeMECP2Lamellar Ichthyosis, Type 1TGM1
Primary Congenital GlaucomaCYP1B1Microcephaly, postnatal progressive, with seizures and brain atrophyMED17Segawa Syndrome, TH-RelatedTH
Congenital Adrenal Hyperplasia, 21-hydroxylase-deficientCYP21A2Familial Mediterranean FeverMEFVDeafness, autosomal dominant 36, autosomal recessive 7TMC1
Cerebrotendinous XanthomatosisCYP27A1Spondylothoracic Dysostosis, MESP2-RelatedMESP2Joubert Syndrome 2 / Meckel Syndrome 2TMEM216
Vitamin D-dependent rickets type 1ACYP27B1Ceroid Lipofuscinosis, Neuronal, 7MFSD8Congenital hypothyroidismTPO
Maple Syrup Urine Disease, Type 2DBTBardet-Biedl Syndrome 6MKKSCeroid Lipofuscinosis, Neuronal, 2TPP1
Severe Combined Immunodeficiency, Type AthabaskanDCLRE1CMeckel-Gruber Syndrome, Type 1MKS1Aicardi-Goutieres Syndrome, TREX1-relatedTREX1
Xeroderma Pigmentosum Group EDDB2Megalencephalic Leukoencephalopathy with Subcortical CystsMLC1Bardet-Biedl syndrome 11TRIM32
Smith-Lemli-Opitz SyndromeDHCR7Malonyl-CoA decarboxylase deficiencyMLYCDMulibrey nanism syndromeTRIM37
Retinitis Pigmentosa 59DHDDSMethylmalonic Aciduria, MMAA-RelatedMMAAAcute Infantile Liver Failure, TRMU-RelatedTRMU
Dyskeratosis congenita, X-LinkedDKC1Methylmalonic Aciduria, MMAB-RelatedMMABPontocerebellar hypoplasiaTSEN54
Dihydrolipoamide Dehydrogenase DeficiencyDLDMethylmalonic Aciduria and Homocystinuria, Type cblCMMACHCCombined Oxidative Phosphorylation Deficiency 3TSFM
Duchenne/Becker Muscular DystrophyDMDMethylmalonic Aciduria and Homocystinuria, Type cblDMMADHCCongenital hypothyroidismTSHB
Ciliary Dyskinesia, Primary 3DNAH5Molybdenum cofactor deficiencyMOCS1Hypothyroidism, congenital, nongoitrous, 1TSHR
Ciliary Dyskinesia, Primary 1DNAI1Congenital Disorder of Glycosylation, Type 1BMPITricho-Hepato-Enteric SyndromeTTC37
Ciliary Dyskinesia, Primary 9DNAI2Congenital Amegakaryocytic ThrombocytopeniaMPLFamilial dilated cardiomyopathyTTN
Ciliary Dyskinesia, Primary, 16DNAL1Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-RelatedMPV17Ataxia with Vitamin E DeficiencyTTPA
Congenital Myasthenic Syndrome, DOK7-RelatedDOK7Ataxia-telangiectasia-like disorder 1MRE11Myoneurogastrointestinal Encephalopathy (MNGIE)TYMP
Dihydropyrimidine Dehydrogenase DeficiencyDPYDHomocystinuria due to Deficiency of MTHFRMTHFROculocutaneous Albinism, Type 1TYR
Limb-Girdle Muscular Dystrophy, Type 2BDYSFMyotubular Myopathy, X-LinkedMTM1Oculocutaneous albinism, Type 3TYRP1
Hypohidrotic Ectodermal Dysplasia, X-LinkedEDAHomocystinuria, Type cblEMTRRCrigler-Najjar SyndromeUGT1A1
Hypohidrotic Ectodermal DysplasiaEDARAbetalipoproteinemiaMTTPBeta-ureidopropionase deficiencyUPB1
Wolcott-Rallison SyndromeEIF2AK3Methylmalonic Aciduria, Type mut(0)MUTUsher Syndrome, Type 1CUSH1C
Leukoencephalopathy with Vanishing White MatterEIF2B5Deafness, autosomal recessive, 3MYO15AUsher Syndrome, Type 2AUSH2A
Dysautonomia, familialELP1Usher Syndrome, Type 1BMYO7AChoreo-acanthocytosisVPS13A
Emery-Dreifuss Muscular Dystrophy 1, X-LinkedEMDMucopolysaccharidosis, Type IIIB (Sanfilippo B)NAGLUCohen SyndromeVPS13B
Xeroderma Pigmentosum Group DERCC2N-acetylglutamate Synthase DeficiencyNAGSCongenital Neutropenia, VPS45-RelatedVPS45
Xeroderma Pigmentosum Group BERCC3Nijmegen Breakage SyndromeNBNPontocerebellar Hypoplasia, Type 2EVPS53
Xeroderma Pigmentosum Group FERCC4Charcot-Marie-Tooth Disease type 4DNDRG1Pontocerebellar Hypoplasia, Type 1AVRK1
Xeroderma pigmentosum Group GERCC5Mitochondrial Complex I Deficiency, NDUFAF5-RelatedNDUFAF5Microphthalmia/Anophthalmia, VSX2-RelatedVSX2
Cockayne syndrome, type BERCC6Mitochondrial complex I deficiencyNDUFS4Von Willebrand diseaseVWF
Cockayne syndrome, type AERCC8Mitochondrial Complex I Deficiency, NDUFS6-RelatedNDUFS6Wiskott-Aldrich syndrome, X-LinkedWAS
Roberts SyndromeESCO2Nemaline Myopathy, NEB-RelatedNEBProgressive Pseudorheumatoid DysplasiaWISP3
Glutaric Acidemia, Type 2AETFASialidosisNEU1Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge SyndromeWNT10A
Glutaric Acidemia, Type 2BETFBHydatidiform Mole, RecurrentNLRP7Werner SyndromeWRN
Glutaric Acidemia, Type 2CETFDHNiemann-Pick Disease, Type C1/DNPC1Xeroderma pigmentosum Group AXPA
Ethylmalonic EncephalopathyETHE1Niemann-Pick Disease, Type C2NPC2Xeroderma Pigmentosum Group CXPC
Ellis-van Creveld Syndrome, EVC-RelatedEVCJuvenile NephronophthisisNPHP1Spastic Paraplegia Type 15ZFYVE26

Technical Information

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.


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