Newborn Genetic AnalysisFulgent Genetics

Newborn Genetic 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.

Genetic analysisof 255 genes

Screens over 200 conditions

�is 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

“Newborn screening saves or improves the livesof more than 12,000 infants in the United States each year.”- Health Resources andServices Administration

Early diagnosis and intervention are key in preventing or reducing severe complications

Newborn Genetic Analysis covers conditions beyond standard newborn screening

Conditions # of Genes

Propionic acidemia, Carnitine palmitoyltransferase II (CPT II) deficiency, PKU, Congenital hypothyroidism

Thrombocytopenia, Spherocytosis, Hereditary hemorrhagic telangiectasia

Connexin-related hearing loss, Pendred syndrome

Heart defects/malformations, Marfan syndrome

Agammaglobulinemia, Chronic granulomatous disease, Omenn syndrome

Hemangioblastomas, Neurofibromatosis, Retinoblastoma, Xeroderma pigmentosum

Seizures, Encephalopathy

Oculocutaneous albinism, Optic atrophy

Cystic Fibrosis, Polycystic kidney disease, Spinal muscular atrophy, Usher syndrome

Dietary modificatioms, hormone replacement therapy, surgery

Surveillance, transfusions

Hearing aids and devices

Surgery, increased surveillance

Prophylactic administration of antibiotics, bone marrow transplantation

Increased surveillance and screening

Routine monitoring, anti-epileptic medication

Dietary management, vision aids, reduced sun exposure

Surveillance, medication, transplantation

Treatment OptionsExample of Conditions

Metabolic Disorders

Blood Disorders

Hearing Loss

Congenital Heart Defect

Immunodeficiency Disorders (SCID)

Pediatric Cancers

Epilepsy

Vision Loss

Other Disorders

*Represents typical panel coverage of full-gene sequencing and deletion/duplication analysis. Technical limitations apply.

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NEWBORN GENETIC ANALYSIS | FLY-NGA-V2 | 2019 1/2

Coverage~99% @ 20x*

HQ | 4978 Santa Anita Ave., Suite 205, Temple City, California 91780 P | (+1) 626-350-0537 F | (+1) 626-454-1667W | FulgentGenetics.com E | info@FulgentGenetics.com

CLIA | 05D2043189 CA | CLF 00342581 CAP | 8042697 D# | FLY-NGA-V22019 © Fulgent Genetics. All rights reserved.NEWBORN GENETIC ANALYSIS | FLY-NGA-V2 | 2019 2019 © Fulgent Genetics. All rights reserved.NEWBORN GENETIC ANALYSIS | FLY-NGA-V2 | 2019

Newborn Genetic AnalysisFulgent Genetics

BENEFITS OF NEWBORN GENETIC ANALYSISTests 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

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 Genetics 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.Genetic counseling is recommended to discuss the results.

IMPORTANT POINTS TO REMEMBER

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.

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Disorder Gene

BLOOD DISORDERS

Beta-thalassemiaCongenital amegakaryocytic thrombocytopaeniaCongenital neutropeniaHemophilia BHereditary hemorrhagic telangiectasia type 1Hereditary hemorrhagic telangiectasia type 2SpherocytosisThrombotic thrombocytopenic purpura

HBBMPLELANE, HAX1F9ENGACVRL1ANK1, EPB42, SLC4A1, SPTBADAMTS13

Newborn Genetic AnalysisGenes and Conditions List

Disorder Gene

CANCER SYNDROMES (PEDIATRIC)

Juvenile polyposis syndromeMultiple endocrine neoplasia INeurofibromatosis type 1Neurofibromatosis type 2Nevoid basal cell carcinoma syndromePeutz-Jeghers syndromeRetinoblastomaVon Hippel-Lindau syndromeXeroderma pigmentosum

BMPR1A, SMAD4MEN1NF1NF2PTCH1STK11RB1VHLERCC2, ERCC5, XPA, XPC

Disorder Gene

CARDIAC DISORDERS

Barth syndromeDanon diseaseHeterotaxyLoeys-Dietz syndromeMarfan syndromeNoonan syndrome

TAZLAMP2ZIC3SMAD3, TGFBR1, TGFBR2FBN1PTPN11

Newborn Genetic Analysis | Genes and Conditions | FLY-NGAGL-V2 1/5

Disorder Gene

EPILEPSY

Benign familial neonatal seizuresDravet syndromeEarly infantile epileptic encephalopathy; Benign familial infantile seizuresEthylmalonic encephalopathyFamilial infantile convulsions with paroxysmal choreoathetosisPyridoxal 5'-phosphate-dependent epilepsyPyridoxine-dependent epilepsyTuberous sclerosis

KCNQ2SCN1ASCN2A, SCN8AETHE1PRRT2PNPOALDH7A1TSC1, TSC2

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Disorder Gene

HEARING LOSS

Jervell and Lange-Nielsen syndromeNonsyndromic hearing loss

Pendred syndromeSensorineural hearing lossShah-Waardenburg syndromeUsher syndrome 1GUsher syndrome type 1CUsher syndrome type 2AUsher syndrome IIDWaardenburg syndrome

KCNE1CDH23, GJB2, GJB6OTOF, TECTA, TMIETMPRSS3, TPRN, TRIOBPSLC26A4MYO15ASOX10USH1GUSH1CUSH2AWHRNPAX3

Gene

METABOLIC DISORDERS

3-beta-hydroxysteroid dehydrogenase deficiency3-hydroxyacyl-CoA dehydrogenase deficiency; Congenital hyperinsulinism3-Methylcrotonyl-CoA carboxylase 1 deficiency3-Methylcrotonyl-CoA carboxylase 2 deficiency3-phosphoglycerate dehydrogenase deficiencyAbetalipoproteinemiaAcrodermatitis enteropathicaAdrenoleukodystrophyArginase deficiencyArgininosuccinic aciduriaBeta-ketothiolase deficiency (Alpha-methylacetoacetic aciduria)Biotinidase deficiencyCarbamoylphosphate synthetase I deficiencyCarnitine palmitoyltransferase I deficiencyCarnitine palmitoyltransferase II deficiencyCarnitine-acylcarnitine translocase deficiencyCentral hypothyroidism and testicular enlargementCentral hypothyroidism with thyrotropin-releasing hormone resistanceCerebral creatine deficiency syndromeCerebral folate transport deficiencyCerebrotendinous xanthomatosisCitrullinemiaCombined pituitary hormone deficiencyCongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyCongenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyCongenital adrenal hypoplasiaCongenital bile acid synthesis defect type 1Congenital bile acid synthesis defect type 2Congenital disorder of glycosylation 1bCongenital hyperinsulinismCongenital hyperinsulinism with hyperammonemiaCongenital hypothyroidism

Congenital lipoid adrenal hyperplasiaCorticosterone methyloxidase deficiency

HSD3B2HADHMCCC1MCCC2PHGDHMTTPSLC39A4ABCD1ARG1ASLACAT1BTDCPS1CPT1ACPT2SLC25A20IGSF1TRHRGAMT, GATMFOLR1CYP27A1ASS1, SLC25A13LHX3, PROP1CYP11B1CYP17A1NR0B1HSD3B7AKR1D1MPIABCC8, HNF4A, KCNJ11GLUD1PAX8, SLC5A5, TGTHRA, TPO, TSHB, TSHRSTARCYP11B2

Disorder

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Gene

METABOLIC DISORDERS

DisorderCrigler-Najjar syndromeCystinosisCytochrome P450 oxidoreductase deficiencyDiabetes insipidus, nephrogenicDihydropteridine reductase deficiencyFabry diseaseFamilial glucocorticoid deficiencyFructose-biphosphatase deficiencyGalactokinase deficiency with cataractsGalactosemiaGlucose-6-phosphate dehydrogenase deficiencyGLUT1 deficiency syndromeGlutaric acidemia IIAGlutaric acidemia IIBGlutaric acidemia IICGlutaricaciduria type IGlutathione synthetase deficiencyGlycogen storage disease IaGlycogen storage disease II (Pompe disease)Glycogen storage disease IIIaGlycogen storage disease type 0Glycogen storage disease type IbGlycogen storage disease VIGM1-GangliosidosisHereditary fructose intoleranceHMG-CoA lyase deficiencyHMG-CoA synthase 2 deficiencyHolocarboxylase synthetase deficiencyHomocystinuria due to cystathionine beta-synthase deficiencyHypercholesterolemiaHypophosphatasiaIsobutyryl-CoA dehydrogenase deficiencyIsovaleric acidemiaKrabbe diseaseLeigh syndromeLipoprotein lipase deficiency (LPL)Lysinuric protein intoleranceLysosomal acid lipase deficiencyMalonyl-CoA decarboxylase deficiencyMaple syrup urine disease type IaMaple syrup urine disease type IbMaple syrup urine disease type IIMaple syrup urine disease type IIIMedium chain acyl CoA dehydrogenase deficiencyMenkes syndromeMetachromatic leukodystrophyMethionine adenosyltransferase deficiencyMethylmalonic aciduria and homocystinuriaMethylmalonic aciduria cblA typeMethylmalonic aciduria cblB typeMethylmalonic aciduria with homocystinuria cblC typeMethylmalonic aciduria with homocystinuria cblD typeMethylmalonic aciduria, mut(0) typeMethylmalonyl-CoA epimerase deficiency

UGT1A1CTNSPORAVPR2QDPRGLAMC2RFBP1GALK1GALE, GALTG6PDSLC2A1ETFAETFBETFDHGCDHGSSG6PCGAAAGLGYS2SLC37A4PYGLGLB1ALDOBHMGCLHMGCS2HLCSCBSLDLRALPLACAD8IVDGALCSURF1LPLSLC7A7LIPAMLYCDBCKDHABCKDHBDBTDLDACADMATP7AARSAMAT1ALMBRD1, MTR, MTRRMMAAMMABMMACHCMMADHCMUTMCEE

Newborn Genetic Analysis | Genes and Conditions | FLY-NGAGL-V2 3/5

Methylmalonic aciduria, mut(0) typeMethylmalonyl-CoA epimerase deficiency MCEE

(continued from previous page)

Gene

METABOLIC DISORDERS

Mitochondrial trifunctional protein deficiencyMucopolysaccharidosis IVAMucopolysaccharidosis type I (Hurler syndrome)Mucopolysaccharidosis type II (Hunter syndrome)Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)Mucopolysaccharidosis VIIN-acetylglutamate synthase deficiencyNeonatal diabetes mellitusNeonatal hyperparathyroidism; Autosomal dominant hypocalcemiaNephrogenic diabetes insipidus type IINiemann-Pick disease type A/BNiemann-Pick disease type C1Ornithine transcarbamylase deficiencyOrnithine translocase deficiency; Triple H syndromePhenylketonuriaPituitary hormone deficiencyPrimary hyperoxaluria type 1Primary hyperoxaluria type 3Primary hyperoxaluria type IIPropionic acidemiaPseudohypoaldosteronismPyruvate kinase deficiencySepiapterin reductase deficiencySitosterolemiaSystemic primary carnitine deficiencyTetrahydrobiopterin deficiencyThyroid dyshormonogenesisTranscobalamin deficiencyTransient infantile liver failureTyrosine hydroxylase deficiencyTyrosinemia type ITyrosinemia type IITyrosinemia type IIIVitamin D-dependent ricketsVitamin D-dependent rickets type IVLCAD deficiencyWilson disease

HADHA, HADHBGALNSIDUAIDSARSBGUSBNAGSINSCASRAQP2SMPD1NPC1OTCSLC25A15PAHPOU1F1AGXTHOGA1GRHPRPCCA, PCCBSCNN1A, SCNN1BPKLRSPRABCG5SLC22A5PCBD1, PTSDUOX2, DUOXA2, IYDTCN2TRMUTHFAHTATHPDVDRCYP27B1ACADVLATP7B

4/5 Newborn Genetic Analysis | Genes and Conditions | FLY-NGAGL-V2

Disorder

(continued from previous page)

Disorder Gene

IMMUNODEFICIENCY DISORDERS

Bare lymphocyte syndromeBare lymphocyte syndrome type IIChronic granulomatous diseaseHyper-IgE syndromeImmune dysregulation, polyendocrinopathy, enteropathyOmenn syndromeSevere combined immunodeficiency

X-linked agammaglobulinemiaX-linked hyper IgM syndrome

RFX5, RFXANK, RFXAPCIITACYBA, CYBB, NCF2DOCK8FOXP3RAG1, RAG2CD3D, CD3E, DCLRE1CIL7R, JAK3, PTPRCZAP70, ADA, IL2RGBTKCD40LG

Disorder Gene

VISION LOSS

Gyrate atrophy of the choroid and retinaOcular albinism type IOculocutaneous albinism type IVOptic atrophy 1

OATGPR143SLC45A2OPA1

Disorder Gene

OTHER DISORDERS

Alagille syndromeAlport syndromeAtaxia with isolated vitamin E deficiencyCongenital insensitivity to pain with anhidrosisCraniometaphyseal dysplasiaCrisponi syndromeCystic fibrosisDopa-responsive dystoniaFamilial hemophagocytic lymphohistiocytosisFamilial Mediterranean feverFrasier syndromeHermansky-Pudlak syndromeHypophosphatemic rickets with hypercalciuriaOsteogenesis imperfectaOsteopetrosisPolycystic kidney and hepatic diseasePolycystic kidney diseaseSpinal muscular atrophy

JAG1COL4A3, COL4A4, COL4A5TTPANTRK1ANKHCRLF1CFTRGCH1PRF1MEFVWT1HPS1, HPS4SLC34A3COL1A1, COL1A2TCIRG1PKHD1PKD2SMN1, SMN2

HQ | 4978 Santa Anita Ave., Suite 205, Temple City, California 91780 P | (+1) 626-350-0537 F | (+1) 626-454-1667W | FulgentGenetics.com E | info@FulgentGenetics.com

CLIA | 05D2043189 CA | CLF 00342581 CAP | 8042697 D# | FLY-NGAGL-V22019 © Fulgent Genetics. All rights reserved.

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Disorder