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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*
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HQ | 4978 Santa Anita Ave., Suite 205, Temple City, California
91780 P | (+1) 626-350-0537 F | (+1) 626-454-1667W |
FulgentGenetics.com E | [email protected]
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
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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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FLY-NGAGL-V2
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(continued from previous page)
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
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Methylmalonic aciduria, mut(0) typeMethylmalonyl-CoA epimerase
deficiency MCEE
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(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
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FLY-NGAGL-V2
Disorder
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(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 | [email protected]
CLIA | 05D2043189 CA | CLF 00342581 CAP | 8042697 D# |
FLY-NGAGL-V22019 © Fulgent Genetics. All rights reserved.
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Disorder