Invitae Carrier Screening (Continued)

Home , ABCD1, ACAD9, Achondrogenesis type 1B, Aldosterone synthase, Alkaptonuria, Alport syndrome

Invitae CarrierScreening COMPREHENSIVE CARRIER SCREEN

BROAD CORE Spinal muscularatrophy Adenosine deaminasedeficiency Acrodermatitis enteropathica Achromatopsia (CNGB3-related) ACAD9 deficiency Abetalipoproteinemia 17-alpha-hydroxylase-deficient congenital adrenalhyperplasia 11-beta-hydroxylase-deficient congenitaladrenalhyperplasia 3-methylglutaconic aciduriatypeIII(Costeffopticatrophy) 3-hydroxy-3-methylglutarayl-CoA (HMG-CoA)lyasedeficiency (congenital adrenalhyperplasia) 3-beta-hydroxysteroid dehydrogenasetypeIIdeficiency Disorder Mucolipidosis typeIV Medium chainacyl-CoAdehydrogenase(MCAD)deficiency Maple syrupurinedisease(MSUD)type1B Maple syrupurinedisease(MSUD)type1A Krabbe disease and sicklecelldisease) HBB-related hemoglobinopathies(includingbeta-thalassemia Glycogen storagediseasetypeII(Pompedisease) Glycogen storagediseasetypeIa GJB2-related DFNB1nonsyndromichearinglossanddeafness Gaucher disease Galactosemia (GALT-related) FKTN-related disorders(including Walker-Warburg syndrome) Fanconi anemiatypeC Familial hyperinsulinism(ABCC8-related) Familial dysautonomia muscular dystrophyanddilatedcardiomyopathy) DMD-related dystrophinopathy*(includingDuchenne/Becker Dihydrolipoamide dehydrogenasedeficiency(DLD) Congenital disorderofglycosylation(PMM2-related) Citrullinemia type1 Canavan disease Bloom syndrome Alpha-thalassemia Disorder Fragile Xsyndrome Cystic fibrosisandotherCFTR-relateddisorders Disorder * SMN1 FMR1 ADA SLC39A4 CNGB3 ACAD9 MTTP CYP17A1 CYP11B1 OPA3 HMGCL HSD3B2 Gene MCOLN1 ACADM BCKDHB BCKDHA GALC HBB GAA G6PC GJB2 GBA GALT FKTN FANCC ABCC8 ELP1 DMD DLD PMM2 ASS1 ASPA BLM HBA1/HBA2 Gene CFTR Gene Ornithine transcarbamylase(OTC)deficiency Niemann-Pick diseasetypeA/B Neuronal ceroid-lipofuscinosis(CLN3-related) Nemaline myopathy2 Scheie, andScheiesyndromes) Mucopolysaccharidosis typeI(includingHurler, Hurler- Disorder Alpha-thalassemia X-linkedintellectualdisabilitysyndrome Alpha-mannosidosis Aldosterone synthasedeficiency Aicardi-Goutieres syndrome(SAMHD1-related) Disorder Arginase deficiency Andermann syndrome Alström syndrome Alport syndrome,X-linked(COL4A5-related) Alport syndrome(COL4A4-related) Alport syndrome(COL4A3-related) Zellweger spectrumdisorder(PEX6-related) Zellweger spectrumdisorder(PEX1-related) X-linked adrenoleukodystrophy Usher syndrometypeIIIA Usher syndrometypeIIA/USH2A-relateddisorders Usher syndrometypeIF/PCDH15-relateddisorders Tyrosinemia typeI and Meckelsyndrome2) TMEM216-related disorders(includingJoubertsyndrome2 Tay-Sachs disease/hexosaminidaseAdeficiency Smith-Lemli-Opitz syndrome (PEX7-related) Rhizomelic chondrodysplasiapunctatatype1/Refsumdisease Polycystic kidneydisease(PKHD1-related) phenylketonuria (PKU)) Phenylalanine hydroxylasedeficiency(including Pendred syndrome X-linked severecombinedimmunodeficiency(X-SCID) *

*Indicates disorder withX-linked inheritance. * *

* * SMPD1 CLN3 NEB IDUA Gene MAN2B1 CYP11B2 SAMHD1 Gene COL4A5 ATRX IL2RG ARG1 SLC12A6 ALMS1 COL4A4 COL4A3 PEX6 PEX1 OTC CLRN1 USH2A PCDH15 FAH TMEM216 HEXA DHCR7 PEX7 PKHD1 PAH SLC26A4 ABCD1 Invitae CarrierScreening COMPREHENSIVE CARRIER SCREEN (CONTINUED) Combined SAPdeficiency Combined pituitary hormonedeficiency(PROP1-related) Combined pituitaryhormonedeficiency (LHX3-related) Combined oxidativephosphorylation deficiency(TSFM-related) Combined oxidativephosphorylation deficiency(GFM1-related) Combined malonicandmethylmalonicaciduria(ACSF3-related) Cohen syndrome Cockayne syndrometypeB Cockayne syndrometypeA Citrin deficiency Chronic granulomatousdisease(CYBB-related) Chronic granulomatousdisease(CYBA-related) Choroideremia Chorea-acanthocytosis Charcot-Marie-Tooth disease,X-linked(GJB1-related) Charcot-Marie-Tooth disease(NDRG1-related) Cerebrotendinous xanthomatosis Cartilage-hair hypoplasia-anauxeticdysplasiaspectrumdisorders Carpenter syndrome(RAB23-related) Carnitine palmitoyltransferaseIIdeficiency Carnitine palmitoyltransferaseIdeficiency Carbamoylphosphate synthetaseIdeficiency Beta-ketothiolase deficiency Bartter syndrometypeIV(BSND-related) Bardet-Biedl syndrome(BBS12-related) Bardet-Biedl syndrome(BBS10-related) Bardet-Biedl syndrome(BBS2-related) Bardet-Biedl syndrome(BBS1-related) (ARSACS) Autosomal recessivespasticataxiaofCharlevoix-Saguenay Autosomal recessivedeafness77(DFNB77) ectodermal dysplasia Autoimmune polyendocrinopathywithcandidiasisand Ataxia-telangiectasia Ataxia withvitaminEdeficiency Aspartylglucosaminuria Asparagine synthetasedeficiency Aromatase deficiency Argininosuccinic aciduria Disorder * * * (continued) PSAP PROP1 LHX3 TSFM GFM1 ACSF3 VPS13B ERCC6 ERCC8 SLC25A13 CYBB CYBA CHM VPS13A GJB1 NDRG1 CYP27A1 RMRP RAB23 CPT2 CPT1A CPS1 ACAT1 BSND BBS12 BBS10 BBS2 BBS1 SACS LOXHD1 AIRE ATM TTPA AGA ASNS CYP19A1 ASL Gene Emery-Dreifuss musculardystrophy(EMD-related) Ellis-van Creveldsyndrome(EVC2-related) Ellis-van Creveldsyndrome(EVC-related) Ehlers-Danlos syndrome,dermatosparaxistype Dystrophic epidermolysisbullosa(COL7A1-related) glycoslylation/retinitis pigmentosa59) DHDDS-related disorders(includingcongenitaldisorderof D-bifunctional proteindeficiency Cystinosis Aldosterone synthasedeficiency Corneal dystrophyandperceptivedeafness Congenital neutropenia(HAX1-related) Congenital myasthenicsyndrome(RAPSN-related) Congenital myasthenicsyndrome(CHRNE-related) Congenital insensitivitytopainwithanhidrosis Congenital ichthyosis(TGM1-related) Congenital disorderofglycosylation(MPI-related) Congenital disorderofglycosylation(ALG6-related) Congenital amegakaryocyticthrombocytopenia Disorder Glycogen storage disease typeIb Glycine encephalopathy(GLDC-related) Glycine encephalopathy(AMT-related) Glutaric acidemiatypeII(ETFDH-related) Glutaric acidemiatypeII(ETFA-related) Glutaric acidemiatypeI Gitelman syndrome(SLC12A3-related) Galactokinase deficiencygalactosemia Fumarate hydratasedeficiency FKRP-related disorders(including Walker-Warburg syndrome) Fanconi anemiatypeG Fanconi anemiatypeA Familial hyperinsulinism(KCNJ11-related) Familial hypercholesterolemia(LDLRAP1-related) Familial hypercholesterolemia(LDLR-related) Factor IXdeficiency(hemophiliaB) Fabry disease Ethylmalonic encephalopathy Enhanced S-conesyndrome/retinitispigmentosa37 * * *Indicates disorder withX-linked inheritance. * EVC2 EVC ADAMTS2 COL7A1 DHDDS HSD17B4 CTNS CYP11B2 SLC4A11 HAX1 RAPSN CHRNE NTRK1 TGM1 MPI ALG6 MPL Gene SLC37A4 GLDC AMT ETFDH ETFA GCDH SLC12A3 GALK1 FH FKRP FANCG FANCA KCNJ11 LDLRAP1 LDLR F9 GLA ETHE1 NR2E3 EMD Invitae CarrierScreening COMPREHENSIVE CARRIER SCREEN (CONTINUED) Limb-girdle musculardystrophy type2D Limb-girdle muscular dystrophytype2C Limb-girdle muscular dystrophytype2B(dysferlinopathy) Limb-girdle musculardystrophytype 2A(calpainopathy) Leukoencephalopathy withvanishing whitematter(EIF2B5-related) with anteriorhorncelldisease Lethal congenitalcontracturesyndrome 1/lethalarthrogryposis Leigh syndrome,French Canadiantype Leber congenitalamaurosis13 Leber congenitalamaurosis10/CEP290-relateddisorders Leber congenitalamaurosis8/CRB1-relateddisorders Leber congenitalamaurosis5 Leber congenitalamaurosis2 LAMA2-related musculardystrophy Junctional epidermolysisbullosa(LAMC2-related) Junctional epidermolysisbullosa(LAMB3-related) Junctional epidermolysisbullosa(LAMA3-related) Isovaleric acidemia Inclusion bodymyopathy2 Hypophosphatasia Hypohidrotic ectodermaldysplasia(EDA-related) (HHH) syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria Hydrolethalus syndrometype1 Homocystinuria, cobalaminEtype Homocystinuria duetoMTHFRdeficiency Homocystinuria (CBS-related) Holocarboxylase synthetasedeficiency Hermansky-Pudlak syndrome(HPS3-related) Hermansky-Pudlak syndrome(HPS1-related) Hereditary hemochromatosis(TFR2-related) Hereditary hemochromatosis(HJV-related) Hereditary fructoseintolerance Guanidinoacetate methyltransferasedeficiency Leigh syndrome) mitochondrial complexIIIdeficiency, Bjornstad syndrome, GRACILE syndrome/BCS1L-relateddisorders(including Glycogen storagediseasetype VII Glycogen storagediseasetype V Glycogen storagediseasetypeIV/adultpolyglucosanbody Glycogen storagediseasetypeIII Disorder * (continued) SGCA SGCG DYSF CAPN3 EIF2B5 GLE1 LRPPRC RDH12 CEP290 CRB1 LCA5 RPE65 LAMA2 LAMC2 LAMB3 LAMA3 IVD GNE ALPL EDA SLC25A15 HYLS1 MTRR MTHFR CBS HLCS HPS3 HPS1 TFR2 HJV ALDOB GAMT BCS1L PFKM PYGM GBE1 AGL Gene Menkes disease/ATP7A-related disorders Megalencephalic leukoencephalopathywithsubcorticalcyststype1 Maple syrupurinedisease(MSUD)type2 Major histocompatibilitycomplexclassIIdeficiency(CIITA-related) cholesterol esterstoragedisease) Lysosomal acidlipasedeficiency(includes Wolman diseaseand Lysinuric proteinintolerance Long chain3-hydroxyacyl-CoAdehydrogenase(LCHAD)deficiency Lipoprotein lipasedeficiency Lipoid congenitaladrenalhyperplasia(STAR-related) Limb-girdle musculardystrophytype2E Disorder Multiple sulfatase deficiency Mucopolysaccharidosis type VI (Maroteaux-Lamysyndrome) Mucopolysaccharidosis typeIX GM1 gangliosidosis Mucopolysaccharidosis typeIVB(Morquio Bsyndrome)/ Mucopolysaccharidosis typeIIID(Sanfilipposyndrome) pigmentosa 73 Mucopolysaccharidosis typeIIIC(Sanfilipposyndrome)/retinitis Mucopolysaccharidosis typeIIIB Mucopolysaccharidosis typeIIIA(SanfilippoAsyndrome) Mucopolysaccharidosis typeII(Huntersyndrome) Mucolipidosis typeIII(GNPTG-related) Mucolipidosis typeII/III(GNPTAB-related) MKS1-related disorders (MNGIE) disease Mitochondrial neurogastrointestinalencephalopathy Mitochondrial myopathyandsideroblasticanemia1 Mitochondrial DNAdepletionsyndrome(MPV17-related) (NDUFS6-related) Mitochondrial complexIdeficiency/Leighsyndrome (NDUFAF5-related) Mitochondrial complexIdeficiency/Leighsyndrome Microphthalmia/clinical anophthalmia(VSX2-related) Methylmalonic acidemiawithhomocystinuria,cobalaminDtype Methylmalonic acidemiawithhomocystinuria,cobalaminCtype Methylmalonic acidemia(MUT-related) Methylmalonic acidemia(MMAB-related) Methylmalonic acidemia(MMAA-related) Metachromatic leukodystrophy(ARSA-related) horn syndromeanddistalhereditarymotorneuropathy) *Indicates disorder withX-linked inheritance. * (includingoccipital * MLC1 DBT CIITA LIPA SLC7A7 HADHA LPL STAR SGCB Gene SUMF1 ARSB HYAL1 GLB1 GNS HGSNAT NAGLU SGSH IDS GNPTG GNPTAB MKS1 TYMP PUS1 MPV17 NDUFS6 NDUFAF5 VSX2 MMADHC MMACHC MUT MMAB MMAA ARSA ATP7A Invitae Carrier Screening (continued)

Disorder Gene Disorder Gene N-acetylglutamate synthase deficiency NAGS Renal tubular acidosis with deafness (ATP6V1B1-related) ATP6V1B1

Nephrogenic diabetes insipidus (AQP2-related) AQP2 Retinitis pigmentosa 25 EYS

Nephrotic syndrome/congenital Finnish nephrosis (NPHS1-related) NPHS1 Retinitis pigmentosa 26 CERKL

Nephrotic syndrome/steroid-resistant nephrotic syndrome Retinitis pigmentosa 28 FAM161A NPHS2 (NPHS2-related) Rhizomelic chondrodysplasia punctata type 3 AGPS Neuronal ceroid-lipofuscinosis (MFSD8-related) MFSD8 Roberts syndrome ESCO2 Neuronal ceroid-lipofuscinosis (PPT1-related) PPT1 RPGRIP1L-related disorders (including Joubert syndrome 7, RPGRIP1L Neuronal ceroid-lipofuscinosis (TPP1-related) TPP1 COACH syndrome and Meckel syndrome 5)

Neuronal ceroid-lipofuscinosis (CLN5-related) CLN5 RTEL-1-related disorders (including dyskeratosis congenita) RTEL1

Neuronal ceroid-lipofuscinosis (CLN6-related) CLN6 Sandhoff disease HEXB

Neuronal ceroid-lipofuscinosis/Northern epilepsy (CLN8-related) CLN8 Schimke immuno-osseous dysplasia SMARCAL1

Niemann-Pick disease type C (NPC1-related) NPC1 Severe combined immune deficiency (DCLRE1C-related) DCLRE1C Severe combined immunodeficiency/Omenn syndrome Niemann-Pick disease type C (NPC2-related) NPC2 RAG2 (RAG2-related) Nijmegen breakage syndrome NBN Severe congenital neutropenia (VPS45-related) VPS45 Ornithine aminotransferase deficiency OAT Sialic acid storage disorders SLC17A5 Osteopetrosis (TCIRG1-related) TCIRG1 Sjögren-Larsson syndrome ALDH3A2 Peroxisomal acyl-CoA oxidase deficiency ACOX1 SLC26A2-related disorders (including diatrophic dysplasia, Phosphoglycerate dehydrogenase deficiency/Neu-Laxova syndrome PHGDH atelosteogenesis type 2, achondrogenesis type 1B/multiple SLC26A2 metaphyseal dysplasia) Polymicrogyria (ADGRG1-related) ADGRG1 SLC35A3-related disorder SLC35A3 POMGNT1-related disorders (including muscle eye brain disease) POMGNT1 Spastic paraplegia type 15 ZFYVE26 Pontocerebellar hypoplasia (RARS2-related) RARS2 Spastic paraplegia type 49 TECPR2 Pontocerebellar hypoplasia (SEPSECS-related) SEPSECS Spondylothoracic dysostosis MESP2 Pontocerebellar hypoplasia (VRK1-related) VRK1 Steel syndrome COL27A1 Postnatal progressive microcephaly with seizures and brain MED17 atrophy/infantile cerebral and cerebellar atrophy (MED17-related) Stüve-Wiedemann syndrome LIFR

Primary carnitine deficiency SLC22A5 Tetrahydrobiopterin deficiency (PTS-related) PTS

Primary ciliary dyskinesia (DNAH5-related) DNAH5 Transient infantile liver failure (TRMU-related) TRMU

COMPREHENSIVE CARRIER SCREEN (CONTINUED) Primary ciliary dyskinesia (DNAI1-related) DNAI1 Tyrosine hydroxylase deficiency TH

Primary ciliary dyskinesia (DNAI2-related) DNAI2 Tyrosinemia type II TAT

Primary hyperoxaluria type 1 AGXT Usher syndrome type IB/MYO7A-related disorders MYO7A

Primary hyperoxaluria type 2 GRHPR Usher syndrome type IC/USH1C-related disorders USH1C

Primary hyperoxaluria type 3 HOGA1 Usher syndrome type ID CDH23

Progressive familial intrahepatic cholestasis type 2 ABCB11 Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency ACADVL

Propionic acidemia (PCCA-related) PCCA Wilson disease ATP7B

Propionic acidemia (PCCB-related) PCCB WNT10A-related disorders (including odonto-onycho-dermal WNT10A dysplasia and Schopf-Schulz-Passarge syndrome) PRPS1-related disorders* (including Charcot-Marie-Tooth disease PRPS1 type 5 and Arts syndrome) X-linked creatine transporter deficiency* SLC6A8

Pycnodysostosis CTSK X-linked juvenile retinoschisis* RS1

Pyruvate carboxylase deficiency PC X-linked myotubular myopathy* MTM1

Pyruvate dehydrogenase deficiency (PDHA1-related)* PDHA1 Xeroderma pigmentosum complementation group A XPA Pyruvate dehydrogenase deficiency (PDHB-related) PDHB

*Indicates disorder with X-linked inheritance. Invitae Carrier Screening (continued)

Disorder Gene

Xeroderma pigmentosum complementation group C XPC

Zellweger spectrum disorder (PEX2-related) PEX2

Zellweger spectrum disorder (PEX10-related) PEX10

Zellweger spectrum disorder (PEX12-related) PEX12 COMPREHENSIVE

Disorder Gene 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency MCCC1 (MCCC1-related)

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency MCCC2 (MCCC2-related)

Alkaptonuria HGD

Alpha-1 antitrypsin deficiency SERPINA1

Bernard-Soulier syndrome (GP1BA-related) GP1BA

Bernard-Soulier syndrome (GP9-related) GP9

Biotinidase deficiency BTD

Factor V Leiden thrombophilia F5

Factor XI deficiency (hemophilia C) F11

Familial Mediterranean fever MEFV

Glucose-6-phosphate dehydrogenase (G6PD) deficiency* G6PD

Hereditary hemochromatosis (HFE-related) HFE

ADD-ON GENES (CAN BE ADDED TO ANY PANEL) Prothrombin-related thrombophilia F2

*Indicates disorder with X-linked inheritance.