Newborn Genetic Analysis

Transcription

1 Fulgent tics Newborn tic Analysis Newborn tic Analysis (NGA) is a highly sophisticated and sensitive genetic test that identifies DNA changes that can cause infants to develop severe or life-altering conditions. Since many of these disorders are not apparent at birth, this test can help screen for these conditions, where early detection, intervention, and management are essential for the infant's overall health and quality of life. tic analysis of 255 genes Screens over 200 conditions Coverage 20x * Newborn screening saves or improves the lives of more than 12,000 infants in the United States each year. - Health Resources and Services Administration This test is designed to: Evaluate sequencing variants and whole gene deletion/duplication Screen for conditions beyond standard newborn testing Only report diagnostic findings that are clinically actionable Serve as confirmatory/follow-up testing for an abnormal or inconclusive newborn screening result Early diagnosis and intervention are key in preventing or reducing severe complications Newborn tic Analysis covers conditions beyond standard newborn screening Conditions Example of Conditions Treatment Options # of s Metabolic s Propionic acidemia, Carnitine palmitoyltransferase II (CPT II) deficiency, PKU, Congenital hypothyroidism Dietary modificatioms, hormone replacement therapy, surgery 145 Blood s Thrombocytopenia, Spherocytosis, Hereditary hemorrhagic telangiectasia Surveillance, transfusions 12 Hearing Loss Connexin-related hearing loss, Pendred syndrome Hearing aids and devices 18 Congenital Heart Defect Heart defects/malformations, Marfan syndrome Surgery, increased surveillance 8 Immunodeficiency s (SCID) Agammaglobulinemia, Chronic granulomatous disease, Omenn syndrome Prophylactic administration of antibiotics, bone marrow transplantation 22 Pediatric Cancers Hemangioblastomas, Neurofibromatosis, Retinoblastoma, Xeroderma pigmentosum Increased surveillance and screening 13 Epilepsy Seizures, Encephalopathy Routine monitoring, anti-epileptic medication 10 Vision Loss Oculocutaneous albinism, Optic atrophy Dietary management, vision aids, reduced sun exposure 4 Other s Cystic Fibrosis, Polycystic kidney disease, Spinal muscular atrophy, Usher syndrome Surveillance, medication, transplantation 23 *Represents typical panel coverage of full-gene sequencing and deletion/duplication analysis. Technical limitations apply. NEWBORN GENETIC ANALYSIS FLY-NGA-V /2

2 Fulgent tics Newborn tic Analysis BENEFITS OF NEWBORN GENETIC ANALYSIS Tests for over 200 conditions Has higher specificity and lower false positive rates than standard newborn screening Reduces burden of ambiguous results or complex follow-up testing Reduces diagnostic odyssey for affected infants Results can be used to identify potential treatment/management plans POSSIBLE TEST RESULTS: + Positive: A change(s) was found in your baby s DNA that is likely to affect their health. This result may indicate necessary medical treatment or confirm a diagnosis of a genetic condition in your newborn. - Negative: Your baby s results showed that they tested negative for an inherited genetic condition screened by this test. Although a negative result does not rule out all possibilities for having or being a carrier for a genetic condition, it does suggest that the risk is meaningfully reduced. *Variants of uncertain clinical significance (VUS) will not be reported. IMPORTANT POINTS TO REMEMBER Turnaround time is 2-3 weeks from receipt of sample. This test only reports pathogenic DNA changes if they are diagnostic. This means a change was found in your baby s DNA that is likely to affect their health. Carrier status is NOT reported. If disease-causing DNA changes are identified, parents may be carriers for the condition, and future pregnancies may be at risk. Fulgent tics offers additional testing to determine if the parents and other family members are at-risk to have the same DNA change. Please contact the laboratory for details. Conditions were selected with beneficence in mind. In many cases this means there is an established medical intervention. For others, however, the considered benefit is early diagnosis only, and no interventions are yet established as effective. tic counseling is recommended to discuss the results. HQ 4978 Santa Anita Ave., Suite 205, Temple City, California P (+1) F (+1) W Fulgenttics.com E info@fulgenttics.com CLIA 05D CA CLF CAP D# FLY-NGA-V Fulgent tics. All rights reserved. 2/2

3 Newborn tic Analysis s and Conditions List BLOOD DISORDERS Beta-thalassemia Congenital amegakaryocytic thrombocytopaenia Congenital neutropenia Hemophilia B Hereditary hemorrhagic telangiectasia type 1 Hereditary hemorrhagic telangiectasia type 2 Spherocytosis Thrombotic thrombocytopenic purpura HBB MPL ELANE, HAX1 F9 ENG ACVRL1 ANK1, EPB42, SLC4A1, SPTB ADAMTS13 CANCER SYNDROMES (PEDIATRIC) Juvenile polyposis syndrome Multiple endocrine neoplasia I Neurofibromatosis type 1 Neurofibromatosis type 2 Nevoid basal cell carcinoma syndrome Peutz-Jeghers syndrome Retinoblastoma Von Hippel-Lindau syndrome Xeroderma pigmentosum BMPR1A, SMAD4 MEN1 NF1 NF2 PTCH1 STK11 RB1 VHL ERCC2, ERCC5, XPA, XPC CARDIAC DISORDERS Arrhythmogenic right ventricular dysplasia Barth syndrome Danon disease Heterotaxy Loeys-Dietz syndrome Marfan syndrome TMEM43 TAZ LAMP2 ZIC3 SMAD3, TGFBR1, TGFBR2 FBN1 EPILEPSY Benign familial neonatal seizures Dravet syndrome Early infantile epileptic encephalopathy; Benign familial infantile seizures Ethylmalonic encephalopathy Familial infantile convulsions with paroxysmal choreoathetosis Pyridoxal 5'-phosphate-dependent epilepsy Pyridoxine-dependent epilepsy Tuberous sclerosis KCNQ2 SCN1A SCN2A, SCN8A ETHE1 PRRT2 PNPO ALDH7A1 TSC1, TSC2 Newborn tic Analysis s and Conditions FLY-NGAGL-V1 1/5

4 HEARING LOSS Jervell and Lange-Nielsen syndrome Nonsyndromic hearing loss Pendred syndrome Sensorineural hearing loss Shah-Waardenburg syndrome Usher syndrome 1G Usher syndrome type 1C Usher syndrome type 2A Usher syndrome IID Waardenburg syndrome KCNE1 CDH23, GJB2, GJB6 OTOF, TECTA, TMIE TMPRSS3, TPRN, TRIOBP SLC26A4 MYO15A SOX10 USH1G USH1C USH2A WHRN PAX3 METABOLIC DISORDERS 3-beta-hydroxysteroid dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency; Congenital hyperinsulinism 3-Methylcrotonyl-CoA carboxylase 1 deficiency 3-Methylcrotonyl-CoA carboxylase 2 deficiency 3-phosphoglycerate dehydrogenase deficiency Abetalipoproteinemia Acrodermatitis enteropathica Adrenoleukodystrophy Arginase deficiency Argininosuccinic aciduria Beta-ketothiolase deficiency (Alpha-methylacetoacetic aciduria) Biotinidase deficiency Carbamoylphosphate synthetase I deficiency Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Central hypothyroidism and testicular enlargement Central hypothyroidism with thyrotropin-releasing hormone resistance Cerebral creatine deficiency syndrome Cerebral folate transport deficiency Cerebrotendinous xanthomatosis Citrullinemia Combined pituitary hormone deficiency Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hypoplasia Congenital bile acid synthesis defect type 1 Congenital bile acid synthesis defect type 2 Congenital disorder of glycosylation 1b Congenital hyperinsulinism Congenital hyperinsulinism with hyperammonemia Congenital hypothyroidism Congenital lipoid adrenal hyperplasia Corticosterone methyloxidase deficiency HSD3B2 HADH MCCC1 MCCC2 PHGDH MTTP SLC39A4 ABCD1 ARG1 ASL ACAT1 BTD CPS1 CPT1A CPT2 SLC25A20 IGSF1 TRHR GAMT, GATM FOLR1 CYP27A1 ASS1, SLC25A13 LHX3, PROP1 CYP11B1 CYP17A1 NR0B1 HSD3B7 AKR1D1 MPI ABCC8, HNF4A, KCNJ11 GLUD1 PAX8, SLC5A5, TG THRA, TPO, TSHB, TSHR STAR CYP11B2 Newborn tic Analysis s and Conditions FLY-NGAGL-V1 2/5

5 METABOLIC DISORDERS Crigler-Najjar syndrome Cystinosis Cytochrome P450 oxidoreductase deficiency Diabetes insipidus, nephrogenic Dihydropteridine reductase deficiency Fabry disease Familial glucocorticoid deficiency Fructose-biphosphatase deficiency Galactokinase deficiency with cataracts Galactosemia Glucose-6-phosphate dehydrogenase deficiency GLUT1 deficiency syndrome Glutaric acidemia IIA Glutaric acidemia IIB Glutaric acidemia IIC Glutaricaciduria type I Glutathione synthetase deficiency Glycogen storage disease Ia Glycogen storage disease II (Pompe disease) Glycogen storage disease IIIa Glycogen storage disease type 0 Glycogen storage disease type Ib Glycogen storage disease VI GM1-Gangliosidosis Hereditary fructose intolerance HMG-CoA lyase deficiency HMG-CoA synthase 2 deficiency Holocarboxylase synthetase deficiency Homocystinuria due to cystathionine beta-synthase deficiency Hypercholesterolemia Hypophosphatasia Isobutyryl-CoA dehydrogenase deficiency Isovaleric acidemia Krabbe disease Leigh syndrome Lipoprotein lipase deficiency (LPL) Lysinuric protein intolerance Lysosomal acid lipase deficiency Malonyl-CoA decarboxylase deficiency Maple syrup urine disease type Ia Maple syrup urine disease type Ib Maple syrup urine disease type II Maple syrup urine disease type III Medium chain acyl CoA dehydrogenase deficiency Menkes syndrome Metachromatic leukodystrophy Methionine adenosyltransferase deficiency Methylmalonic aciduria and homocystinuria Methylmalonic aciduria cbla type Methylmalonic aciduria cblb type Methylmalonic aciduria with homocystinuria cblc type Methylmalonic aciduria with homocystinuria cbld type Methylmalonic aciduria, mut(0) type Methylmalonyl-CoA epimerase deficiency UGT1A1 CTNS POR AVPR2 QDPR GLA MC2R FBP1 GALK1 GALE, GALT G6PD SLC2A1 ETFA ETFB ETFDH GCDH GSS G6PC GAA AGL GYS2 SLC37A4 PYGL GLB1 ALDOB HMGCL HMGCS2 HLCS CBS LDLR ALPL ACAD8 IVD GALC SURF1 LPL SLC7A7 LIPA MLYCD BCKDHA BCKDHB DBT DLD ACADM ATP7A ARSA MAT1A LMBRD1, MTR, MTRR MMAA MMAB MMACHC MMADHC MUT MCEE Newborn tic Analysis s and Conditions FLY-NGAGL-V1 3/5

6 METABOLIC DISORDERS Mitochondrial trifunctional protein deficiency Mucopolysaccharidosis IVA Mucopolysaccharidosis type I (Hurler syndrome) Mucopolysaccharidosis type II (Hunter syndrome) Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) Mucopolysaccharidosis VII N-acetylglutamate synthase deficiency Neonatal diabetes mellitus Neonatal hyperparathyroidism; Autosomal dominant hypocalcemia Nephrogenic diabetes insipidus type II Niemann-Pick disease type A/B Niemann-Pick disease type C1 Ornithine transcarbamylase deficiency Ornithine translocase deficiency; Triple H syndrome Phenylketonuria Pituitary hormone deficiency Primary hyperoxaluria type 1 Primary hyperoxaluria type 3 Primary hyperoxaluria type II Propionic acidemia Pseudohypoaldosteronism Pyruvate kinase deficiency Sepiapterin reductase deficiency Sitosterolemia Systemic primary carnitine deficiency Tetrahydrobiopterin deficiency Thyroid dyshormonogenesis Transcobalamin deficiency Transient infantile liver failure Tyrosine hydroxylase deficiency Tyrosinemia type I Tyrosinemia type II Tyrosinemia type III Vitamin D-dependent rickets Vitamin D-dependent rickets type I VLCAD deficiency Wilson disease HADHA, HADHB GALNS IDUA IDS ARSB GUSB NAGS INS CASR AQP2 SMPD1 NPC1 OTC SLC25A15 PAH POU1F1 AGXT HOGA1 GRHPR PCCA, PCCB SCNN1A, SCNN1B PKLR SPR ABCG5 SLC22A5 PCBD1, PTS DUOX2, DUOXA2, IYD TCN2 TRMU TH FAH TAT HPD VDR CYP27B1 ACADVL ATP7B Newborn tic Analysis s and Conditions FLY-NGAGL-V1 4/5

7 IMMUNODEFICIENCY DISORDERS Bare lymphocyte syndrome Bare lymphocyte syndrome type II Chronic granulomatous disease Hyper-IgE syndrome Immune dysregulation, polyendocrinopathy, enteropathy Omenn syndrome Severe combined immunodeficiency X-linked agammaglobulinemia X-linked hyper IgM syndrome RFX5, RFXANK, RFXAP CIITA CYBA, CYBB, NCF2 DOCK8 FOXP3 RAG1, RAG2 CD3D, CD3E, DCLRE1C IL7R, JAK3, PTPRC ZAP70, ADA, IL2RG BTK CD40LG VISION LOSS Gyrate atrophy of the choroid and retina Ocular albinism type I Oculocutaneous albinism type IV Optic atrophy 1 OAT GPR143 SLC45A2 OPA1 OTHER DISORDERS Alagille syndrome Alport syndrome Ataxia with isolated vitamin E deficiency Congenital insensitivity to pain with anhidrosis Craniometaphyseal dysplasia Crisponi syndrome Cystic fibrosis Dopa-responsive dystonia Familial hemophagocytic lymphohistiocytosis Familial Mediterranean fever Frasier syndrome Hermansky-Pudlak syndrome Hypophosphatemic rickets with hypercalciuria Osteogenesis imperfecta Osteopetrosis Polycystic kidney and hepatic disease Polycystic kidney disease Spinal muscular atrophy JAG1 COL4A3, COL4A4, COL4A5 TTPA NTRK1 ANKH CRLF1 CFTR GCH1 PRF1 MEFV WT1 HPS1, HPS4 SLC34A3 COL1A1, COL1A2 TCIRG1 PKHD1 PKD2 SMN1, SMN2 HQ 4978 Santa Anita Ave., Suite 205, Temple City, California P (+1) F (+1) W Fulgenttics.com E info@fulgenttics.com CLIA 05D CA CLF CAP D# FLY-NGAGL-V Fulgent tics. All rights reserved. 5/5