sign in sign up
<<
Home , Bartter syndrome, Biotinidase, Biotinidase deficiency, Cohen syndrome, Cutis laxa, Isovaleric acidemia

500 PLUS Panel Understanding more means empowering more Your patients are asking for even more insight as they plan for the future. Empower your patients with more genetic information to help guide family planning and treatment decisions. Our team will support you every step of the way.

In many cases, based on current and advanced treatment options, early, comprehensive knowledge can significantly enhance prenatal decision- making and neonatal care. One of the first carrier screens of this size and scope, the Inheritest® 500 PLUS Panel provides expanded coverage for hundreds of clinically-relevant genetic disorders.

Extensive gene coverage

• Panel comprises 525 , each associated with a clinically-relevant . • Thoughtful disorder selection based on ACOG and ACMG criteria and backed by our expert scientific and clinical team. These disorders are focused on severity, early childhood onset, identification of early intervention opportunities and increased childhood mortality. • Many disorders may have treatment benefit with early medical intervention. Cutting-edge science and methodology

Methodology/capability How you and your patients benefit Comprehensive full-exon sequencing with detection of 99% detection rates for most disorders deletions and duplications

Identification of patients at risk of being SMA silent carriers Potentially more carriers identified

Integrated CGG and AGG analysis for fragile X syndrome More precise risk information and rapid turnaround time

Positive result confirmation using alternative technology per Helps to reduce the risk of false positives, limiting ACMG guidelines1 unnecessary diagnostic procedures

Excellent support for your practice and patients • Pre- and post-test genetic counseling. National network of board-certified and state-licensed genetic counselors dedicated to patient care. • Access to experts. In-house lab genetic counselors, medical geneticists and lab directors available to support results interpretation. • Broad in-network coverage and access to multiple pricing options as well as our Patient Engagement Program. Send your patients to www.integratedgenetics. com/transparency or call 844.799.3243. Turnaround time of approximately 2 weeks • Simple, clear, and concise lab reports based on extensive customer insights. Combined reports for reproductive partners when tested simultaneously.

Types of disorders identified by the Inheritest® 500 PLUS Panel*†

Associated with severe, early onset; increased child mortality; decreased life expectancy; degenerative 525 and progressive disorders; affecting quality of life; and/or requiring medical management. 293 May cause intellectual disability in affected individuals. 286 May cause loss of vision/ eye problems in affected individuals – early identification may be beneficial. 182 Metabolic disorders; may have treatment benefit with early medical intervention.

154 May cause deafness/ in affected individuals – early identification could be beneficial. 36 X-linked genes, meaning only the mother has to be a carrier for the child to be at risk.

*Based on information on the relevant disorders compiled from Genetics Home Reference and GARD.2-3 †Due to category overlap, the total number of genes is greater than 525 One fast result for fragile X risk assessment AGG analysis in women who have a premutation with 55-90 CGG repeats provides a more accurate risk assessment compared to CGG testing alone.4-6

Risk of expansion to a full based on CGG repeat size and AGG data7

Maternal CGG 0 AGGs 1 AGG 2 or more repeat size range* AGGs

55-59 1.9% <1% <1% Example: In a patient with 75-79 CGG repeats, the risk of 60-64 5.4% <1% <1% expansion to a full mutation is 65-69 10% <1% <1% 10.7% for 2 AGG interruptions compared to 71.7% for no AGG 70-74 51.9% 7.6% <1% interruptions.

75-79 71.7% 40% 10.7%

80-84 88.2% 65.2% 20.7%

85-90 86.1% 84.6% 29.4%

*AGG analysis is not performed for CGG repeats >90 because once the repeat length exceeds this number, there is no apparent effect of AGG interruptions.6

Inheritest 500 PLUS Panel offers a rapid turnaround time of ~14 days for a complete fragile X result, with both CGG and AGG repeats reported simultaneously.

National network of approximately 130 genetic counselors to deliver genetics expertise to you and your patients.

• Genetic results counseling and comprehensive counseling customized to meet your practice needs. • Telegenetic counseling through an audio and video connection so patients can receive counseling in the comfort and privacy of their own home. • Quick and convenient online scheduling and patient management platform via www.integratedgenetics.com/genetic-counseling. Genetic • Genetic Education Video Series to help educate and inform patients about their testing options counseling available on www.integratedgenetics.com/videos.

GeneSeq PLUS Focused comprehensive single gene analysis • Provides an option for partner testing when an analysis of a particular gene is desired. • Valuable when a patient has a family history of a specific disorder or when prenatal diagnosis is requested. • Available with or without VUS (variants of unknown significance), based on provider or patient preference. • Detection of deletions and duplications contributes to high detection rates. Disorders covered by Inheritest 500 PLUS Panel, with their related genes:

3M syndrome (CCDC8) Autosomal recessive (SLC12A1) Combined malonic and Deafness and hearing loss, congenital (ARCI) methylmalonic aciduria (ACSF3) nonsyndromic (POU3F4) 3M syndrome (CUL7) (ALOX12B) Beta-hemoglobinopathies, includes sickle cell disease and Congenital adrenal hyperplasia Deafness and hearing loss, 3M syndrome (OBSL1) Autosomal recessive beta-thalassemias (HBB) (CYP11B1) nonsyndromic (STRC) congenital ichthyosis (ARCI) Congenital adrenal hyperplasia Deafness and hearing loss, 3-Methylcrotonyl-CoA Beta-ketothiolase deficiency (ALOXE3) (CYP17A1) nonsyndromic (SYNE4) carboxylase deficiency (ACAT1) Autosomal recessive Congenital adrenal hyperplasia (MCCC1) Beta- (MANBA) Dent disease (CLCN5) congenital ichthyosis (ARCI) (CYP21A2) 3-Methylcrotonyl-CoA (CASP14) Dent disease (OCRL) carboxylase deficiency deficiency (BTD) Congenital adrenal hyperplasia Autosomal recessive (MCCC2) (HSD3B2) Dihydrolipoamide congenital ichthyosis (ARCI) (BLM) dehydrogenase deficiency Abetalipoproteinemia (MTTP) (CERS3) Congenital adrenal hyperplasia Brittle cornea syndrome (POR) (DLD) Acute infantile failure Autosomal recessive (PRDM5) Congenital adrenal hyperplasia Dihydropyrimidine (LARS) congenital ichthyosis (ARCI) (CYP4F22) Brittle cornea syndrome (STAR) dehydrogenase deficiency Acute infantile (ZNF469) (DPYD) Congenital adrenal hypoplasia, (NBAS) Autosomal recessive congenital ichthyosis (ARCI) Canavan disease (ASPA) X-linked (NR0B1) Distal spinal muscular Acute infantile liver failure (LIPN) atrophy, autosomal recessive (TRMU) Carbamoyl phosphate Congenital amegakaryocytic (PLEKHG5) Autosomal recessive synthetase I deficiency (CPS1) thrombocytopenia (MPL) Donnai-Barrow syndrome congenital ichthyosis (ARCI) Congenital disorder of deficiency(ADA) (NIPAL4) palmitoyltransferase I (LRP2) deficiency(CPT1A) deglycosylation (NGLY1) , Dystrophinopathies, including Autosomal recessive Congenital disorders of X-linked (ABCD1) congenital ichthyosis (ARCI) Carnitine palmitoyltransferase Duchenne and Becker II deficiency (CPT2) glycosylation type 1 (ALG1) muscular dystrophy and Agammaglobulinemia, X-linked (PNPLA1) Congenital disorders of X-linked (DMD) (BTK) Autosomal recessive Carnitine-acylcarnitine deficiency glycosylation type 1 (ALG6) Early infantile epileptic Aicardi-Goutières syndrome congenital ichthyosis (ARCI) (SLC25A20) encephalopathy (CAD) (RNASEH2A) (SDR9C7) Congenital disorders of glycosylation type 1 (MPI) Aicardi-Goutières syndrome Autosomal recessive Carpenter syndrome (MEGF8) Early infantile epileptic (RNASEH2B) congenital ichthyosis (ARCI) Congenital disorders of encephalopathy (ITPA) Carpenter syndrome (RAB23) (SLC27A4) glycosylation type 1 (PMM2) Aicardi-Goutières syndrome Ehlers-Danlos syndrome type (RNASEH2C) Autosomal recessive Cartilage-hair hypoplasia Congenital generalized VIIC (ADAMTS2) (RMRP) lipodystrophy (AGPAT2) Aicardi-Goutières syndrome congenital ichthyosis (ARCI) Emery-Dreifuss muscular (SAMHD1) (TGM1) Cerebellar hypoplasia, VLDLR- Congenital generalized dystrophy (EMD) associated (VLDLR) lipodystrophy (CAVIN1) Allan-Herndon-Dudley Autosomal recessive spastic Emery-Dreifuss muscular syndrome (SLC16A2) of Charlevoix-Saguenay Cerebral deficiency Congenital insensitivity to pain dystrophy (FHL1) (ARSACS) (SACS) syndromes (GAMT) with anhidrosis (NTRK1) Ethylmalonic encephalopathy Alpha-mannosidosis (MAN2B1) Axonal neuropathy with Cerebral creatine deficiency Congenital myasthenic (ETHE1) Alpha-thalassemia (HBA1) , autosomal syndromes (GATM) syndrome (CHAT) recessive (HINT1) (GLA) Cerebral creatine deficiency Congenital myasthenic Alpha-thalassemia (HBA2) Bardet-Biedl syndrome (ARL6) syndromes (SLC6A8) syndrome (COLQ) Familial dysautonomia (ELP1) Alpha-thalassemia, X-linked Congenital myasthenic Bardet-Biedl syndrome (BBS1) Cerebrotendinous Familial hemophagocytic intellectual disability syndrome xanthomatosis (CYP27A1) syndrome (DOK7) lymphohistiocytosis (PRF1) (ATRX) Bardet-Biedl syndrome (BBS10) Chronic granulomatous Congenital myasthenic Familial hemophagocytic Alport syndrome, X-linked disease (CYBA) syndrome (GFPT1) lymphohistiocytosis (STX11) (COL4A5) Bardet-Biedl syndrome (BBS12) Chronic granulomatous Congenital myasthenic Familial hemophagocytic Alström syndrome (ALMS1) Bardet-Biedl syndrome (BBS2) disease (CYBB) syndrome (RAPSN) lymphohistiocytosis (STXBP2) Andermann syndrome Bardet-Biedl syndrome (BBS4) Chronic granulomatous Corneal dystrophy and Familial hemophagocytic (SLC12A6) disease (NCF1) perceptive deafness (SLC4A11) lymphohistiocytosis (UNC13D) Bardet-Biedl syndrome (BBS5) deficiency (ARG1) Chronic granulomatous Costeff optic atrophy Familial hyperinsulinism disease (NCF2) syndrome, autosomal recessive (ABCC8) Bardet-Biedl syndrome (BBS7) (OPA3) Argininosuccinic aciduria (ASL) Chronic granulomatous Familial Mediterranean Aromatic l- Bardet-Biedl syndrome (BBS9) disease (NCF4) (ATP6V0A2) (MEFV) decarboxylase deficiency Bardet-Biedl syndrome (MKKS) (CEP290) Fanconi (BRIP1) (DDC) Cutis laxa (ATP6V1E1) Bardet-Biedl syndrome Arterial tortuosity syndrome Ciliopathies (MKS1) Cutis laxa (EFEMP2) Fanconi anemia (FANCA) (SLC2A10) (SDCCAG8) (ASS1) Cutis laxa (LTBP4) Fanconi anemia (FANCB) Arthrogryposis, mental Bardet-Biedl syndrome (TTC8) retardation, and Citrullinemia (SLC25A13) Fanconi anemia (FANCC) Bare lymphocyte syndrome Cutis laxa (PYCR1) (AMRS) (SLC35A3) type II (CIITA) Coats plus syndrome and Fanconi anemia (FANCD2) Asparagine synthetase (CFTR) Bare lymphocyte syndrome (CTC1) deficiency(ASNS) Fanconi anemia (FANCE) type II (RFX5) Cockayne syndrome (ERCC6) (CTNS) (AGA) Bare lymphocyte syndrome Fanconi anemia (FANCF) Cockayne syndrome (ERCC8) Danon disease (LAMP2) Ataxia with E deficiency type II (RFXANK) Fanconi anemia (FANCG) (TTPA) Bare lymphocyte syndrome Coffin-Lowry syndrome D-bifunctional type II (RFXAP) (RPS6KA3) deficiency(HSD17B4) Ataxia-telangiectasia (ATM) Fanconi anemia (FANCI) Deafness and hearing loss, Barth syndrome (TAZ) Cohen syndrome (VPS13B) (ATP7A) copper transport nonsyndromic (GJB2) Fanconi anemia (FANCL) disorders, includes Menkes Bartter syndrome (BSND) Cold-induced sweating Deafness and hearing loss, Fragile X syndrome (FMR1) syndrome syndrome (includes Crisponi nonsyndromic (GJB6) Bartter syndrome (CLCNKA) syndrome (CLCF1) Autoimmune polyglandular Deafness and hearing loss, Fraser syndrome (FRAS1) syndrome type 1 (AIRE) Bartter syndrome (CLCNKB) nonsyndromic (LOXHD1) Cold-induced sweating Fraser syndrome (FREM2) Autosomal recessive syndrome (includes Crisponi Deafness and hearing loss, congenital ichthyosis (ARCI) Bartter syndrome (KCNJ1) syndrome (CRLF1) (ABCA12) nonsyndromic (OTOF) Fraser syndrome (GRIP1) (FUCA1) Hermansky-Pudlak syndrome Joubert syndrome and related Leukoencephalopathy with with (HPS4) disorders, including Meckel- vanishing white matter (EIF2B3) (HCFC1) Galactosemia (GALE) Gruber syndrome (TCTN3) Hermansky-Pudlak syndrome Leukoencephalopathy with Methylmalonic acidemia with Galactosemia (GALK1) (HPS5) Joubert syndrome and related vanishing white matter (EIF2B4) homocystinuria (LMBRD1) disorders, including Meckel- Hermansky-Pudlak syndrome Leukoencephalopathy with Methylmalonic acidemia with Gruber syndrome (TMEM138) Galactosemia (GALT) (HPS6) vanishing white matter (EIF2B5) homocystinuria (MMACHC) Joubert syndrome and related (CTSA) HMG-CoA deficiency Limb-girdle muscular Methylmalonic acidemia with (HMGCL) disorders, including Meckel- homocystinuria (MMADHC) Gruber syndrome (TMEM216) dystrophy, autosomal recessive Gaucher disease (GBA) Holocarboxylase synthetase (CAPN3) Mitochondrial complex I deficiency(HLCS) Joubert syndrome and related deficiency(ACAD9) Glutaric acidemia type I (GCDH) disorders, including Meckel- Limb-girdle muscular Homocystinuria (CBS) Gruber syndrome (TMEM231) dystrophy, autosomal recessive Mitochondrial complex V Glutaric acidemia type II (ETFA) (DYSF) deficiency(TMEM70) HSD10 disease (HSD17B10) Joubert syndrome and related Glutaric acidemia type II (ETFB) disorders, including Meckel- Limb-girdle muscular Mitochondrial DNA depletion Hyaline fibromatosis syndrome Gruber syndrome (TMEM237) dystrophy, autosomal recessive syndrome (MPV17) Glutaric acidemia type II (ANTXR2) (FKRP) (ETFDH) Joubert syndrome and related Mitochondrial DNA depletion Hydrolethalus syndrome disorders, including Meckel- Limb-girdle muscular syndrome (TK2) synthetase dystrophy, autosomal recessive (HYLS1) Gruber syndrome (TMEM67) Mitochondrial myopathy, lactic deficiency(GSS) (POMGNT1) Hypomyelination and Junctional epidermolysis acidosis, and sideroblastic encephalopathy (AMT) congenital cataract (FAM126A) bullosa (LAMA3) Limb-girdle muscular anemia (PUS1) dystrophy, autosomal recessive type II and III Hypophosphatasia (ALPL) Junctional epidermolysis (POMT1) (GLDC) bullosa (LAMB3) (GNPTAB) Immunodeficiency-centromeric Limb-girdle muscular Glycogen storage disease instability-facial anomalies (ICF) Junctional epidermolysis dystrophy, autosomal recessive Mucolipidosis type IV (MCOLN1) type I (G6PC) bullosa (LAMC2) syndrome (CDCA7) (POMT2) Mucopolysaccharidosis Glycogen storage disease Immunodeficiency-centromeric Juvenile hereditary Limb-girdle muscular type I (IDUA) type I (SLC37A4) hemochromatosis (HAMP) instability-facial anomalies (ICF) dystrophy, autosomal recessive Mucopolysaccharidosis Glycogen storage disease syndrome (DNMT3B) Juvenile hereditary (SGCA) type II (IDS) type III (AGL) hemochromatosis (HJV) Immunodeficiency-centromeric Limb-girdle muscular Mucopolysaccharidosis Glycogen storage disease instability-facial anomalies (ICF) (GALC) dystrophy, autosomal recessive type III (GNS) type IV (GBE1) syndrome (HELLS) (SGCB) Mucopolysaccharidosis L1 syndrome (L1CAM) Glycogen storage disease Immunodeficiency-centromeric Limb-girdle muscular type III (HGSNAT) type IX (PHKA1) instability-facial anomalies (ICF) dystrophy, autosomal recessive Leber congenital amaurosis Mucopolysaccharidosis syndrome (ZBTB24) (SGCD) Glycogen storage disease (AIPL1) type III (NAGLU) type IX (PHKA2) Immunodysregulation, Leber congenital amaurosis Limb-girdle muscular polyendocrinopathy, and Mucopolysaccharidosis Glycogen storage disease (LCA5) dystrophy, autosomal recessive type III (SGSH) type IX (PHKB) enteropathy (FOXP3) (SGCG) Leber congenital amaurosis Inclusion body myopathy 2 Mucopolysaccharidosis Glycogen storage disease (LRAT) Limb-girdle muscular type IVA (GALNS) type IX (PHKG2) (GNE) dystrophy, autosomal recessive Leber congenital amaurosis (TRAPPC11) Mucopolysaccharidosis Glycogen storage disease (IVD) (RD3) type IX (HYAL1) Limb-girdle muscular type V (PYGM) Joubert syndrome and related Leber congenital amaurosis dystrophy, autosomal recessive Mucopolysaccharidosis Glycogen storage disease disorders, including Meckel- (RDH12) (TRIM32) type VI (ARSB) type VII (PFKM) Gruber syndrome (AHI1) Leber congenital amaurosis Lipoprotein lipase deficiency, Mucopolysaccharidosis GM1 and Joubert syndrome and related (RPE65) familial (LPL) type VII (GUSB) mucopolysaccharidosis disorders, including Meckel- type IVB (GLB1) Gruber syndrome (ARL13B) Leber congenital amaurosis Long-chain 3-hydroxyacyl- Multiple pterygium syndrome (RPGRIP1) CoA dehydrogenase (LCHAD) (CHRNG) GRACILE syndrome (BCS1L) Joubert syndrome and related disorders, including Meckel- Leber congenital amaurosis deficiency(HADHA) Multiple sulphatase deficiency Gyrate atrophy of choroid and Gruber syndrome (B9D1) (SPATA7) Lysinuric protein intolerance (SUMF1) retina (OAT) Joubert syndrome and related Leber congenital amaurosis (SLC7A7) Muscular dystrophy (LAMA2) Hepatic venoocclusive disease disorders, including Meckel- (TULP1) Lysosomal acid lipase Myotubular myopathy (MTM1) with immunodeficiency (SP110) Gruber syndrome (B9D2) Leigh syndrome, autosomal deficiency(LIPA) Hereditary folate Joubert syndrome and related recessive (COX15) Maple syrup disease Nemaline myopathy (NEB) malabsorption (SLC46A1) disorders, including Meckel- Leigh syndrome, autosomal (BCKDHA) Gruber syndrome (CEP104) Nephrogenic diabetes Hereditary fructose Intolerance recessive (FBXL4) Maple syrup urine disease insipidus (AVPR2) (ALDOB) Joubert syndrome and related Leigh syndrome, autosomal (BCKDHB) Hereditary spastic paraplegia disorders, including Meckel- (NPHS1) recessive (FOXRED1) Maple syrup urine disease (CYP7B1) Gruber syndrome (CPLANE1) Leigh syndrome, autosomal (DBT) Nephrotic syndrome (NPHS2) Hereditary spastic paraplegia Joubert syndrome and related recessive (LRPPRC) Medium-chain acyl-CoA (SPG11) disorders, including Meckel- Neurodegeneration with brain Gruber syndrome (INPP5E) Leigh syndrome, autosomal dehydrogenase (MCAD) iron accumulation disorder Hereditary spastic paraplegia recessive (NDUFAF2) deficiency(ACADM) (ATP13A2) (SPG21) Joubert syndrome and related disorders, including Meckel- Leigh syndrome, autosomal Megalencephalic Neurodegeneration with brain Hereditary spastic paraplegia Gruber syndrome (KIF14) recessive (NDUFAF5) leukoencephalopathy with iron accumulation disorder (TECPR2) subcortical cysts type 1 (MLC1) Joubert syndrome and related Leigh syndrome, autosomal (C19orf12) Hermansky-Pudlak syndrome disorders, including Meckel- recessive (NDUFS4) Metachromatic Neurodegeneration with brain (AP3B1) (ARSA) Gruber syndrome (NPHP1) Leigh syndrome, autosomal iron accumulation disorder Hermansky-Pudlak syndrome Joubert syndrome and related recessive (NDUFS6) Metachromatic leukodystrophy (COASY) (AP3D1) (PSAP) disorders, including Meckel- Leigh syndrome, autosomal Neurodegeneration with brain Hermansky-Pudlak syndrome Gruber syndrome (NPHP3) recessive (NDUFS7) Methylmalonic acidemia iron accumulation disorder (CP) (BLOC1S3) Joubert syndrome and related (MCEE) Leigh syndrome, autosomal Neurodegeneration with brain Hermansky-Pudlak syndrome disorders, including Meckel- recessive (NDUFV1) Methylmalonic acidemia iron accumulation disorder (BLOC1S6) Gruber syndrome (RPGRIP1L) (MMAA) Leigh syndrome, autosomal (DCAF17) Hermansky-Pudlak syndrome Joubert syndrome and related recessive (SURF1) Methylmalonic acidemia Neurodegeneration with brain (DTNBP1) disorders, including Meckel- (MMAB) Leukoencephalopathy with iron accumulation disorder Hermansky-Pudlak syndrome Gruber syndrome (TCTN1) vanishing white matter (EIF2B1) Methylmalonic acidemia (FA2H) (HPS1) Joubert syndrome and related (MMUT) Neurodegeneration with brain Hermansky-Pudlak syndrome disorders, including Meckel- Leukoencephalopathy with Methylmalonic acidemia with iron accumulation disorder (HPS3) Gruber syndrome (TCTN2) vanishing white matter (EIF2B2) homocystinuria (ABCD4) (PLA2G6) Neuronal ceroid-lipofuscinosis Pitt-Hopkins-like syndrome 1 Retinitis pigmentosa (EYS) Severe combined Usher syndrome (hearing (CLN3) (CNTNAP2) immunodeficiency (SCID) loss and retinitis pigmentosa) Retinitis pigmentosa (FAM161A) (PRKDC) (USH1G) Neuronal ceroid-lipofuscinosis Polycystic disease, (CLN5) autosomal recessive (PKHD1) Retinitis pigmentosa (IFT140) Severe combined Usher syndrome (hearing immunodeficiency (SCID) loss and retinitis pigmentosa) Neuronal ceroid-lipofuscinosis Pompe disease (GAA) (PTPRC) (USH2A) (CLN6) Retinitis pigmentosa (MAK) Pontocerebellar hypoplasia Severe combined Usher syndrome (hearing Neuronal ceroid-lipofuscinosis (AMPD2) Retinitis pigmentosa (PRCD) immunodeficiency (SCID) loss and retinitis pigmentosa) (CLN8) Pontocerebellar hypoplasia Retinitis pigmentosa (RLBP1) (STK4) (WHRN) Neuronal ceroid-lipofuscinosis (CHMP1A) Severe combined Very long-chain acyl-CoA (CTSD) Pontocerebellar hypoplasia Retinitis pigmentosa (RP2) immunodeficiency (SCID) dehydrogenase (VLCAD) Neuronal ceroid-lipofuscinosis (TTC7A) deficiency(ACADVL) (CLP1) Retinitis pigmentosa (RPGR) (CTSF) Pontocerebellar hypoplasia Severe combined Walker-Warburg syndrome and Neuronal ceroid-lipofuscinosis (EXOSC3) Rhizomelic chondrodysplasia immunodeficiency (SCID) other FKTN related dystrophies (KCTD7) punctata (AGPS) (ZAP70) Pontocerebellar hypoplasia Werner syndrome (WRN) Neuronal ceroid-lipofuscinosis (RARS2) Rhizomelic chondrodysplasia Severe combined (MFSD8) punctata (GNPAT) Immunodeficiency(SCID) , Wilson disease (ATP7B) Pontocerebellar hypoplasia X-linked (IL2RG) Neuronal ceroid-lipofuscinosis (SEPSECS) Rhizomelic chondrodysplasia (PPT1) punctata (PEX7) Severe congenital neutropenia, (DDB2) Pontocerebellar hypoplasia autosomal recessive (HAX1) Neuronal ceroid-lipofuscinosis (TSEN2) Sandhoff disease (HEXB) Xeroderma pigmentosum Sialic acid storage disorders (TPP1) Pontocerebellar hypoplasia (ERCC2) SELENON-related disorders (SLC17A5) Niemann-Pick disease type C (TSEN34) Xeroderma pigmentosum (NPC1) Pontocerebellar hypoplasia Severe combined (NEU1) (ERCC3) immunodeficiency (SCID) (AK2) Niemann-Pick disease type C (TSEN54) Sjogren-Larsson syndrome Xeroderma pigmentosum (NPC2) Pontocerebellar hypoplasia Severe combined (ALDH3A2) (ERCC4) Niemann-Pick disease types A (VPS53) immunodeficiency (SCID) Smith-Lemli-Opitz syndrome Xeroderma pigmentosum (CD247) and B (SMPD1) Pontocerebellar hypoplasia (DHCR7) (ERCC5) Severe combined Nijmegen breakage syndrome (VRK1) Spinal muscular atrophy (SMN1) Xeroderma pigmentosum immunodeficiency (SCID) (NBN) Primary carnitine deficiency (POLH) (CD3D) (SLC22A5) Spondylothoracic dysostosis Omenn syndrome (DCLRE1C) (MESP2) Xeroderma pigmentosum (XPA) Primary congenital glaucoma Severe combined Omenn syndrome (RAG1) (CYP1B1) immunodeficiency (SCID) ) Xeroderma pigmentosum (XPC) (CD3E) osteochondrodysplasias, X-linked syndromic mental Omenn syndrome (RAG2) Primary hyperoxaluria (AGXT) includes Severe combined type 1B, atelosteogenesis type retardation (NONO) immunodeficiency (SCID) transcarbamylase Primary hyperoxaluria (GRHPR) 2, , and Zellweger spectrum disorder/ (CD3G) deficiency(OTC) recessive multiple epiphyseal peroxisome biogenesis Primary hyperoxaluria (HOGA1) Ornithine translocase Severe combined dysplasia (SLC26A2) disorder (PEX1) deficiency(SLC25A15) Progressive familial immunodeficiency (SCID) Sulfite oxidase deficiency Zellweger spectrum disorder/ (CD8A) Osteogenesis imperfecta, intrahepatic cholestasis (SUOX) peroxisome biogenesis (ABCB11) Severe combined disorder (PEX10) autosomal recessive (BMP1) Tay-Sachs disease (HEXA) Progressive familial immunodeficiency (SCID) Osteogenesis imperfecta, Zellweger spectrum disorder/ intrahepatic cholestasis (CORO1A) Tetrahydrobiopterin deficiency autosomal recessive (CRTAP) peroxisome biogenesis (ABCB4) Severe combined (PCBD1) disorder (PEX11B) Osteogenesis imperfecta, Progressive familial immunodeficiency (SCID) Tetrahydrobiopterin deficiency autosomal recessive (FKBP10) Zellweger spectrum disorder/ intrahepatic cholestasis (DOCK8) (PTS) peroxisome biogenesis Osteogenesis imperfecta, (ATP8B1) Severe combined Tetrahydrobiopterin deficiency disorder (PEX12) autosomal recessive (P3H1) Progressive pseudorheumatoid immunodeficiency (SCID) (QDPR) Zellweger spectrum disorder/ Osteogenesis imperfecta, dysplasia (CCN6) (FOXN1) Trichohepatoenteric syndrome peroxisome biogenesis autosomal recessive (PLOD2) (PCCA) Severe combined (SKIV2L) disorder (PEX13) Osteogenesis imperfecta, immunodeficiency (SCID) Trichohepatoenteric syndrome Zellweger spectrum disorder/ autosomal recessive (PPIB) Propionic acidemia (PCCB) (IKBKB) (TTC37) peroxisome biogenesis disorder (PEX14) Osteogenesis imperfecta, Pseudocholinesterase Severe combined Trifunctional protein deficiency autosomal recessive deficiency(BCHE) immunodeficiency (SCID) (HADHB) Zellweger spectrum disorder/ (SERPINF1) (IL2RA) peroxisome biogenesis Pycnodysostosis (CTSK) Triple A syndrome (AAAS) disorder (PEX16) Osteogenesis imperfecta, Severe combined autosomal recessive Pyridoxal 5'-phosphate- immunodeficiency (SCID) (IL7R) hydroxylase Zellweger spectrum disorder/ (TMEM38B) dependent epilepsy (PNPO) deficiency(TH) peroxisome biogenesis Severe combined Pyridoxine-dependent disorder (PEX19) Osteogenesis imperfecta, immunodeficiency (SCID) type I (FAH) epilepsy (ALDH7A1) autosomal recessive (WNT1) (JAK3) Zellweger spectrum disorder/ Tyrosinemia type II (TAT) peroxisome biogenesis , autosomal Pyruvate dehydrogenase deficiency(DLAT) Severe combined disorder (PEX2) recessive (OSTM1) immunodeficiency (SCID) (LCK) Tyrosinemia type III (HPD) Zellweger spectrum disorder/ Osteopetrosis, autosomal Pyruvate dehydrogenase Severe combined Usher syndrome (hearing peroxisome biogenesis recessive (TCIRG1) deficiency(PDHA1) immunodeficiency (SCID) (LIG4) loss and retinitis pigmentosa) disorder (PEX26) Osteopetrosis, autosomal Pyruvate dehydrogenase Severe combined (ADGRV1) Zellweger spectrum disorder/ recessive (TNFSF11) deficiency(PDHB) immunodeficiency (SCID) Usher syndrome (hearing peroxisome biogenesis Pantothenate kinase- Pyruvate dehydrogenase (MALT1) loss and retinitis pigmentosa) disorder (PEX3) associated neurodegeneration deficiency(PDHX) (CDH23) Severe combined Zellweger spectrum disorder/ (PANK2) Pyruvate dehydrogenase immunodeficiency (SCID) Usher syndrome (hearing loss peroxisome biogenesis deficiency(PDP1) Pendred syndrome (SLC26A4) (MTHFD1) and retinitis pigmentosa) (CIB2) disorder (PEX5) and Usher syndrome (hearing Peroxisomal acyl-CoA oxidase Severe combined Zellweger spectrum disorder/ deafness (ATP6V0A4) loss and retinitis pigmentosa) deficiency(ACOX1) immunodeficiency (SCID) peroxisome biogenesis Renal tubular acidosis and (NHEJ1) (CLRN1) disorder (PEX6) hydroxylase deafness (ATP6V1B1) Usher syndrome (hearing deficiency, includes Severe combined loss and retinitis pigmentosa) (PKU) (PAH) Retinitis pigmentosa (CERKL) immunodeficiency (SCID) (PGM3) (PCDH15) Phosphoglycerate Retinitis pigmentosa (CWC27) Usher syndrome (hearing dehydrogenase deficiency Severe combined loss and retinitis pigmentosa) (PHGDH) Retinitis pigmentosa (DHDDS) immunodeficiency (SCID) (PNP) (USH1C) Toll-free (within the US) at Test/panel name Test no. Turnaround time* 800.848.4436 Inheritest® 500 PLUS Panel 630049 12-16 days www.integratedgenetics.com Inheritest® 500 PLUS Panel with Repro Partners Report 630217 12-16 days Integrated Genetics GeneSeq® PLUS 630068 14-21 days 3400 Computer Drive GeneSeq® PLUS without VUS 630085 14-21 days Westborough Massachusetts 01581 GeneSeq® PLUS, Prenatal 630119 14-21 days GeneSeq® PLUS without VUS, Prenatal 630102 14-21 days View short videos on genetic testing: *From the date of pickup of a specimen for testing to when the result is released. www.integratedgenetics.com/videos

Integrated Genetics is a brand used by Esoterix Genetic 10 mL whole in a yellow-top (ACD-A) tube Laboratories, LLC, a wholly owned subsidiary of Laboratory Corporation of America® Holdings. or lavender-top (EDTA) tube Applies to tests noted above except prenatal options

Continuity of care, pioneering science, professional service

REFERENCES Inheritest is available through Integrated Genetics, which delivers continuity of 1. Rehm et al. ACMG clinical laboratory standards for next- generation sequencing. ACMG Practice Guidelines. Gen care for your patients, from carrier screening to noninvasive prenatal testing (NIPT, Med. Volume 15, Number 9, September 2013;733-747. also known as cfDNA testing) to diagnostic testing. 2. Genetic and Rare Diseases Information Center (GARD). https://rarediseases.info.nih.gov. Accessed August 7, 2019 3. Genetics Home Reference. https://ghr.nlm.nih.gov. Accessed August 7, 2019 We provide the scientific expertise you need, and the customer experience 4. Yrigollen CM, Durbin-Johnson B, Gane L, et al. AGG patients want. interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012. 14(8):729–736. 5. Nolin SL, Sah S, Glicksman A, et. Al. Fragile X AGG analysis provides new risk predictions for 45-69 repeat . Am Rapid results J Med Genet Part A 2013. 161A:771-778 6. Nolin SL, Glicksman A, Ersalesi N, et al. Fragile X full Samples have a turnaround time of ~ 2 weeks from the date of pickup of a mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. Gen Med, 2015 specimen for testing to when the result is released. May;17(5):358-64. 7. Domniz N, Ries-Levavi L, Cohen Y, et al. Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers. Front Genet. 2018. 9:606. Extensive managed care contracts Help patients maximize their benefits.

Convenient blood draws We have a nationwide network of patient service centers, allowing for convenient access to sample collection. Visit www.LabCorp.com to find your nearest location.

Genetic counseling Patients with a positive test result may be offered counseling, and Integrated Genetics offers the largest national commercial network of genetic counselors to help inform and support patients. Visit our online scheduler at integratedgenetics.com or call 855.422.2557. To learn more about genetic inheritance and carrier screening for genetic disorders visit www.integratedgenetics.com/videos.

© 2019 Laboratory Corporation of America® Holdings. All rights reserved. | rep-1379-v1-0919 | L 21419-0919-v1