Beacon Carrier Screening Detecting 400+ Conditions

Home , Alport syndrome, Asparagine synthetase, BCS1L, DNAI1, Fumarase deficiency, Hunter syndrome

COVERAGE ~99% at 20x DELETION / DUPLICATION ≥ 2 exons TURNAROUND TIME 2 weeks*

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Alpha thalassemia HBA1/HBA2 AR ü ü ü ü

Cystic fibrosis CFTR AR ü ü ü ü

Fragile X syndrome FMR1 XL ü ü ü ü

Sickle cell disease; Beta thalassemia HBB AR ü ü ü ü

Spinal muscular atrophy SMN1 AR ü ü ü ü

Bloom syndrome BLM AR - ü ü ü

Canavan disease ASPA AR - ü ü ü

Congenital disorder of glycosylation type 1a PMM2 AR - ü ü ü

ELP1 Familial dysautonomia AR - ü ü ü (IKBKAP)

Fanconi anemia group C FANCC AR - ü ü ü

Galactosemia GALT AR - ü ü ü

Gaucher disease GBA AR - ü ü ü

Glycogen storage disease, type 1a G6PC AR - ü ü ü

Niemann-Pick disease, type A/B SMPD1 AR - ü ü ü

Polycystic kidney disease, PKHD1-related PKHD1 AR - ü ü ü

Smith-Lemli-Opitz syndrome DHCR7 AR - ü ü ü

Tay-Sachs disease HEXA AR - ü ü ü

Tyrosinemia, type 1 FAH AR - ü ü ü

Citrullinemia ASS1 AR - ü ü ü

Duchenne muscular dystrophy DMD XL - ü ü ü

Isovaleric acidemia IVD AR - ü ü ü

Medium-chain acyl-CoA dehydrogenase ACADM AR ü ü ü (MCAD) deficiency -

Methylmalonic aciduria and homocystinuria, MMACHC AR ü ü ü cblC type -

Mucopolysaccharidosis, type I (Hurler syndrome) IDUA AR - ü ü ü

Neuronal ceroid lipofuscinosis, CLN3-related CLN3 AR - ü ü ü

Phenylalanine hydroxylase deficiency PAH AR ü ü ü (Phenylketonuria) -

Pompe disease GAA AR - ü ü ü

Rhizomelic chondrodysplasia punctata, type 1 PEX7 AR - ü ü ü

Zellweger syndrome, PEX1-related PEX1 AR - ü ü ü

* Turnaround time may vary if specimen requires additional confirmatory testing. Please contact the laboratory for additional details. † This gene count reflects testing for female patients. Male patients will not be screened for X-linked conditions. ‡ Please visit our website for ethnicity-specific analytical detection rates.

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ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Abetalipoproteinemia MTTP AR - - ü ü

Alport syndrome, COL4A3-related COL4A3 AR - - ü ü

Arthrogryposis, mental retardation, and seizures SLC35A3 AR - - ü ü

Bardet-Biedl syndrome 2; Retinitis Pigmentosa 74 BBS2 AR - - ü ü

Carnitine palmitoyltransferase II deficiency CPT2 AR - - ü ü

Congenital amegakaryocytic thrombocytopenia MPL AR - - ü ü

Dihydrolipoamide dehydrogenase deficiency DLD AR - - ü ü

Dyskeratosis congenita type 5 RTEL1 AR - - ü ü

Ehlers-Danlos syndrome, Dermatosparaxis ADAMTS2 AR ü ü type VIIC - -

Factor XI deficiency F11 AR - - ü ü

Familial hyperinsulinism, ABCC8-related ABCC8 AR - - ü ü

Joubert syndrome 2; Meckel syndrome 2 TMEM216 AR - - ü ü

Maple syrup urine disease type Ia BCKDHA AR - - ü ü

Maple syrup urine disease type Ib BCKDHB AR - - ü ü

Mucolipidosis IV MCOLN1 AR - - ü ü

Multiple sulfatase deficiency SUMF1 AR - - ü ü

Muscular dystrophy-dystroglycanopathy, FKTN- FKTN AR ü ü related; Fukuyama congenital muscular dystrophy - -

Nemaline myopathy NEB AR - - ü ü

Non-syndromic hearing loss, PCDH15-related; PCDH15 AR / Digenic ü ü Usher syndrome, type 1F - -

Phosphoglycerate dehydrogenase deficiency PHGDH AR - - ü ü

Retinitis pigmentosa 59 DHDDS AR - - ü ü

Usher syndrome, type 3A CLRN1 AR - - ü ü

Wilson disease ATP7B AR - - ü ü

Zellweger syndrome, PEX2-related PEX2 AR - - ü ü

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL AR - - ü ü

3-Ketothiolase deficiency ACAT1 AR - - ü ü

3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1 AR ü ü (3-MCC deficiency) - -

3-Methylcrotonyl-CoA carboxylase 2 deficiency MCCC2 AR ü ü (3-MCC deficiency) - -

Achondrogenesis, type IB; Atelosteogenesis II; Diastrophic dysplasia; Multiple epiphyseal SLC26A2 AR - - ü ü dysplasia

Achromatopsia CNGB3 AR - - ü ü

Acrodermatitis enteropathica SLC39A4 AR - - ü ü

Acyl-CoA dehydrogenase-9 (ACAD9) Deficiency ACAD9 AR - - ü ü

Adenosine deaminase deficiency ADA AR - - ü ü

Adrenoleukodystrophy, X-linked ABCD1 XL - - ü ü

Aicardi-Goutieres syndrome SAMHD1 AR - - ü ü

Alkaptonuria HGD AR - - ü ü

Alpha thalassemia X-linked intellectual ATRX XL ü ü disability syndrome - -

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Alpha-mannosidosis MAN2B1 AR - - ü ü

Alport syndrome, COL4A4-related COL4A4 AR - - ü ü

Alport syndrome, COL4A5-related COL4A5 XL - - ü ü

Alstrom syndrome ALMS1 AR - - ü ü

Anauxetic dysplasia; Cartilage-hair hypoplasia; RMRP AR ü ü Metaphyseal dysplasia without hypotrichosis - -

Andermann syndrome SLC12A6 AR - - ü ü

Arginase deficiency ARG1 AR - - ü ü

Argininosuccinate lyase deficiency ASL AR - - ü ü

Aromatase deficiency CYP19A1 AR - - ü ü

Arts syndrome; Rosenberg-Chutorian syndrome; Phosphoribosylpyrophosphate synthetase PRPS1 XL ü ü superactivity; Non-syndromic hearing loss, - - PRPS1-related

Asparagine synthetase deficiency ASNS AR - - ü ü

Aspartylglucosaminuria AGA AR - - ü ü

Ataxia with isolated vitamin E deficiency TTPA AR - - ü ü

Ataxia-telangiectasia ATM AR - - ü ü

Autoimmune polyendocrinopathy syndrome type I AIRE AR - - ü ü

Autosomal Recessive Spastic Ataxia of SACS AR ü ü Charlevoix-Saguenay - -

Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome CEP290 AR - - ü ü 4; Senior-Løken syndrome 6

Bardet-Biedl syndrome type 1 BBS1 AR - - ü ü

Bardet-Biedl syndrome type 10 BBS10 AR - - ü ü

Bardet-Biedl syndrome type 12 BBS12 AR - - ü ü

Bare lymphocyte syndrome, type II CIITA AR - - ü ü

Bartter syndrome BSND AR - - ü ü

Bernard-Soulier syndrome type A1 GP1BA AR - - ü ü

Bernard-Soulier syndrome type C GP9 AR - - ü ü

Bilateral frontoparietal polymicrogyria ADGRG1 AR - - ü ü

Biotinidase deficiency BTD AR - - ü ü

Björnstad syndrome; GRACILE syndrome; BCS1L AR ü ü Mitochondrial complex III deficiency - -

Carbamoylphosphate synthetase I deficiency CPS1 AR - - ü ü

Carnitine palmitoyltransferase IA deficiency CPT1A AR - - ü ü

Carnitine-acylcarnitine translocase deficiency SLC25A20 AR - - ü ü

Carpenter syndrome RAB23 AR - - ü ü

Cerebrotendinous xanthomatosis CYP27A1 AR - - ü ü

Charcot-Marie-Tooth disease, type 4D NDRG1 AR - - ü ü

Charcot-Marie-Tooth disease, X-linked type 1 GJB1 XL - - ü ü

Chediak-Higashi syndrome LYST AR - - ü ü

Chondrodysplasia punctata type 1, X-linked ARSE XL - - ü ü

Choreoacanthocytosis VPS13A AR - - ü ü

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Choroideremia CHM XL - - ü ü

Chronic granulomatous disease CYBA AR - - ü ü

Chronic granulomatous disease, X-linked CYBB XL - - ü ü

Citrin deficiency SLC25A13 AR - - ü ü

Cockayne syndrome type A ERCC8 AR - - ü ü

Cockayne syndrome type B; ERCC6 AR ü ü De Sanctis-Cacchione syndrome - -

Cohen syndrome VPS13B AR - - ü ü

Combined malonic and methylmalonic aciduria ACSF3 AR - - ü ü

Combined oxidative phosphorylation deficiency, GFM1 AR ü ü GFM1-related - -

Combined oxidative phosphorylation deficiency, TSFM AR ü ü TSFM-related - -

Combined pituitary hormone deficiency 2 PROP1 AR - - ü ü

Combined pituitary hormone deficiency 3 LHX3 AR - - ü ü

Congenital adrenal hyperplasia due to CYP11B1 AR ü ü 11-beta-hydroxylase deficiency - -

Congenital adrenal hyperplasia due to CYP17A1 AR ü ü 17-alpha-hydroxylase deficiency - -

Congenital adrenal hyperplasia due to CYP21A2 AR ü ü 21-hydroxylase deficiency - -

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase HSD3B2 AR - - ü ü 2 deficiency

Congenital adrenal hypoplasia, X-linked NR0B1 XL - - ü ü

Congenital disorder of glycosylation type Ib MPI AR - - ü ü

Congenital disorder of glycosylation type Ic ALG6 AR - - ü ü

Congenital hyperinsulinism; KCNJ11 AR ü ü Permanent neonatal diabetes mellitus - -

Congenital ichthyosis TGM1 AR - - ü ü

Congenital insensitivity to pain with anhidrosis NTRK1 AR - - ü ü

Congenital myasthenic syndrome, CHRNE AR ü ü CHRNE-related - -

Congenital myasthenic syndrome, RAPSN-related; Fetal akinesia RAPSN AR - - ü ü deformation sequence

Congenital nephrotic syndrome, type 1 NPHS1 AR - - ü ü

Congenital nephrotic syndrome, type 2 NPHS2 AR - - ü ü

Congenital secretory chloride diarrhea SLC26A3 AR - - ü ü

Corneal endothelial dystrophy SLC4A11 AR - - ü ü

Corticosterone methyloxidase deficiency CYP11B2 AR - - ü ü

Costeff syndrome OPA3 AR - - ü ü

Creatine deficiency syndrome SLC6A8 XL - - ü ü

Crigler-Najjar syndrome UGT1A1 AR - - ü ü

Cystinosis CTNS AR - - ü ü

D-bifunctional protein deficiency HSD17B4 AR - - ü ü

Dent disease 2; Lowe syndrome OCRL XL - - ü ü

Dihydropyrimidine dehydrogenase deficiency DPYD AR - - ü ü

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Dystrophic epidermolysis bullosa COL7A1 AR - - ü ü

Ellis-van Creveld syndrome, EVC2-related; EVC2 AR ü ü Weyers acrodental dysostosis, EVC2-related - -

Ellis-van Creveld syndrome, EVC-related; EVC AR ü ü Weyers acrofacial dysostosis, EVC-related - -

Emery-Dreifuss muscular dystrophy EMD XL - - ü ü

Enhanced S-cone syndrome; NR2E3 AR ü ü Retinitis pigmentosa 37 - -

Ethylmalonic encephalopathy ETHE1 AR - - ü ü

Fabry disease GLA XL - - ü ü

Familial Mediterranean fever MEFV AR - - ü ü

Fanconi anemia group A FANCA AR - - ü ü

Fanconi anemia group G FANCG AR - - ü ü

Fumarase deficiency FH AR - - ü ü

Galactokinase deficiency GALK1 AR - - ü ü

Gitelman syndrome SLC12A3 AR - - ü ü

Glutaric aciduria IIA ETFA AR - - ü ü

Glutaric aciduria IIB ETFB AR - - ü ü

Glutaric aciduria IIC ETFDH AR - - ü ü

Glutaric aciduria, type I GCDH AR - - ü ü

Glycine encephalopathy, AMT-related AMT AR - - ü ü

Glycine encephalopathy, GLDC-related GLDC AR - - ü ü

Glycogen storage disease IV GBE1 AR - - ü ü

Glycogen storage disease type III AGL AR - - ü ü

Glycogen storage disease type V PYGM AR - - ü ü

Glycogen storage disease VII PFKM AR - - ü ü

Glycogen storage disease, type Ib SLC37A4 AR - - ü ü

Guanidinoacetate methyltransferase deficiency GAMT AR - - ü ü

Gyrate atrophy of choroid and retina OAT AR - - ü ü

Hemochromatosis, type 2A HJV (HFE2) AR - - ü ü

Hemochromatosis, type 3 TFR2 AR - - ü ü

Hemophilia A F8 XL - - ü ü

Hemophilia B F9 XL - - ü ü

Hepatocerebral mitochondrial DNA MPV17 AR ü ü depletion syndrome, MPV17-related - -

Hereditary fructose intolerance ALDOB AR - - ü ü

Hermansky-Pudlak syndrome 1 HPS1 AR - - ü ü

Hermansky-Pudlak syndrome 3 HPS3 AR - - ü ü

Holocarboxylase synthetase deficiency HLCS AR - - ü ü

Homocystinuria due to cystathionine CBS AR ü ü beta-synthase deficiency - -

Homocystinuria-megaloblastic anemia, MTRR AR ü ü cobalamin E type - -

Hydrolethalus syndrome HYLS1 AR - - ü ü

Hyper IgM syndrome, X-linked CD40LG XL - - ü ü

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Hyperornithinemia-hyperammonemia- SLC25A15 AR ü ü homocitrullinemia syndrome (Triple H syndrome) - -

Hypohidrotic ectodermal dysplasia EDA XL - - ü ü

Hypophosphatasia ALPL AR - - ü ü

Inclusion body myopathy type 2 GNE AR ü ü (Nonaka myopathy) - -

Infantile neuroaxonal dystrophy PLA2G6 AR - - ü ü

Joubert syndrome 28; Meckel syndrome 1; MKS1 AR ü ü Bardet-Biedl syndrome 13 - -

Joubert syndrome 4; Senior-Løken syndrome 1; NPHP1 AR ü ü Nephronophthisis - -

Junctional epidermolysis bullosa, LAMA3-related; LAMA3 AR ü ü Laryngo-onycho-cutaneous syndrome - -

Junctional epidermolysis bullosa, LAMB3-related LAMB3 AR - - ü ü

Junctional epidermolysis bullosa, LAMC2-related LAMC2 AR - - ü ü

Juvenile retinoschisis, X-linked RS1 XL - - ü ü

Krabbe disease GALC AR - - ü ü

L1 syndrome L1CAM XL - - ü ü

Leber congenital amaurosis 2; RPE65 AR ü ü Retinitis pigmentosa 20 - -

Leber congenital amaurosis 5 LCA5 AR - - ü ü

Leber congenital amaurosis 8; CRB1 AR ü ü Retinitis pigmentosa 12 - -

Leber congenital amaurosis type 13 RDH12 AR - - ü ü

Leigh syndrome with Complex IV deficiency LRPPRC AR - - ü ü

Lethal congenital contracture syndrome 1 GLE1 AR - - ü ü

Leukoencephalopathy with vanishing white matter EIF2B5 AR - - ü ü

Limb-girdle muscular dystrophy type 2A CAPN3 AR - - ü ü

Limb-girdle muscular dystrophy type 2B DYSF AR - - ü ü

Limb-girdle muscular dystrophy, type 2C SGCG AR - - ü ü

Limb-girdle muscular dystrophy, type 2D SGCA AR - - ü ü

Limb-girdle muscular dystrophy, type 2E SGCB AR - - ü ü

Limb-girdle muscular dystrophy, type 2F SGCD AR - - ü ü

Limb-girdle muscular dystrophy, type 2H; TRIM32 AR ü ü Bardet-Biedl syndrome 11 - -

Lipoid congenital adrenal hyperplasia STAR AR - - ü ü

Lissencephaly, X-linked DCX XL - - ü ü

Liver failure, acute infantile TRMU AR - - ü ü

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency; HADHA AR - - ü ü Trifunctional protein deficiency

Lysinuric protein intolerance SLC7A7 AR - - ü ü

Lysosomal acid lipase deficiency LIPA AR - - ü ü

Maple syrup urine disease, type II DBT AR - - ü ü

Meckel syndrome 5; Joubert syndrome 7; RPGRIP1L AR ü ü COACH syndrome - -

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Megalencephalic leukoencephalopathy MLC1 AR ü ü with subcortical cysts - -

Menkes disease ATP7A XL - - ü ü

Metachromatic leukodystrophy ARSA AR - - ü ü

Metachromatic leukodystrophy due to PSAP AR ü ü saposin-b deficiency - -

Methylmalonic acidemia, MUT-related MUT AR - - ü ü

Methylmalonic aciduria and homocystinuria, MMADHC AR ü ü cblD type - -

Methylmalonic aciduria, cblA type MMAA AR - - ü ü

Methylmalonic aciduria, cblB type MMAB AR - - ü ü

Microphthalmia with or without coloboma VSX2 AR - - ü ü

Mitochondrial complex I deficiency NDUFAF5 AR ü ü (Leigh syndrome), NDUFAF5-related - -

Mitochondrial complex I deficiency NDUFS6 AR ü ü (Leigh syndrome), NDUFS6-related - -

Mitochondrial myopathy and sideroblastic PUS1 AR ü ü anemia 1 - -

Mitochondrial neurogastrointestinal TYMP AR ü ü encephalopathy (MNGIE) disease - -

Mucolipidosis III alpha/beta; GNPTAB AR ü ü Mucolipidosis II alpha/beta - -

Mucolipidosis III gamma GNPTG AR - - ü ü

Mucopolysaccharidosis IIIA SGSH AR ü ü (Sanfilippo syndrome A) - -

Mucopolysaccharidosis IIID GNS AR ü ü (Sanfilippo syndrome D) - -

Mucopolysaccharidosis IVA GALNS AR ü ü (Morquio syndrome A) - -

Mucopolysaccharidosis type II (Hunter syndrome) IDS XL - - ü ü

Mucopolysaccharidosis type IIIB NAGLU AR ü ü (Sanfilippo syndrome B) - -

Mucopolysaccharidosis type IIIC HGSNAT AR ü ü (Sanfilippo syndrome C) - -

Mucopolysaccharidosis type IVB GLB1 AR ü ü (Morquio syndrome B); GM1-gangliosidosis - -

Mucopolysaccharidosis type IX HYAL1 AR - - ü ü

Mucopolysaccharidosis type VI ARSB AR ü ü (Maroteaux-Lamy syndrome) - -

Mucopolysaccharidosis type VII GUSB AR - - ü ü

Multiple pterygium syndrome CHRNG AR - - ü ü

Muscular dystrophy, LAMA2-related LAMA2 AR - - ü ü

Muscular dystrophy-dystroglycanopathy, FKRP AR ü ü FKRP-related - -

Muscular dystrophy-dystroglycanopathy; POMGNT1 AR ü ü Retinitis pigmentosa 76 - -

Myotubular myopathy, X-linked MTM1 XL - - ü ü

N-acetylglutamate synthase deficiency NAGS AR - - ü ü

Nephrogenic diabetes insipidus AQP2 AR - - ü ü

Neuronal ceroid lipofuscinosis, CLN5-related CLN5 AR - - ü ü

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Neuronal ceroid lipofuscinosis, CLN6-related CLN6 AR - - ü ü

Neuronal ceroid lipofuscinosis, CLN8-related CLN8 AR - - ü ü

Neuronal ceroid lipofuscinosis, MFSD8-related MFSD8 AR - - ü ü

Neuronal ceroid lipofuscinosis, PPT1-related PPT1 AR - - ü ü

Neuronal ceroid lipofuscinosis, TPP1-related TPP1 AR - - ü ü

Niemann-Pick disease, type C1 NPC1 AR - - ü ü

Niemann-Pick disease, type C2 NPC2 AR - - ü ü

Nijmegen breakage syndrome NBN AR - - ü ü

Nonsyndromic hearing loss, GJB2-related GJB2 AR - - ü ü

Nonsyndromic hearing loss, GJB6-related GJB6 AR - - ü ü

Nonsyndromic hearing loss, LOXHD1-related LOXHD1 AR - - ü ü

Non-syndromic hearing loss, MYO7A-related; MYO7A AR ü ü Usher syndrome, type 1B - -

Non-syndromic hearing loss, USH1C-related; USH1C AR ü ü Usher syndrome, type IC - -

Omenn syndrome, RAG1-related RAG1 AR - - ü ü

Omenn syndrome, RAG2-related RAG2 AR - - ü ü

Ornithine transcarbamylase deficiency OTC XL - - ü ü

Osteopetrosis, TCIRG1-related TCIRG1 AR - - ü ü

Pendred syndrome SLC26A4 AR - - ü ü

Peroxisomal acyl-CoA oxidase deficiency ACOX1 AR - - ü ü

Pontocerebellar hypoplasia type 1A VRK1 AR - - ü ü

Pontocerebellar hypoplasia type 1B EXOSC3 AR - - ü ü

Pontocerebellar hypoplasia type 6 RARS2 AR - - ü ü

Pontocerebellar hypoplasia, type 2D SEPSECS AR - - ü ü

Postnatal progressive microcephaly with MED17 AR ü ü seizures and brain atrophy - -

Primary ciliary dyskinesia, DNAH5-related DNAH5 AR - - ü ü

Primary ciliary dyskinesia, DNAI1-related DNAI1 AR - - ü ü

Primary ciliary dyskinesia, DNAI2-related DNAI2 AR - - ü ü

Primary ciliary dyskinesia, DNAL1-related DNAL1 AR - - ü ü

Primary ciliary dyskinesia, type 14 CCDC39 AR - - ü ü

Primary ciliary dyskinesia, type 17 CCDC103 AR - - ü ü

Primary ciliary dyskinesia, type 30 CCDC151 AR - - ü ü

Primary congenital glaucoma CYP1B1 AR - - ü ü

Primary hyperoxaluria type 1 AGXT AR - - ü ü

Primary Hyperoxaluria type II GRHPR AR - - ü ü

Primary hyperoxaluria type III HOGA1 AR - - ü ü

Progressive external ophthalmoplegia; Alpers-Huttenlocher syndrome; Ataxia neuropathy POLG AR - - ü ü spectrum; Myocerebrohepatopathy syndrome

Progressive Familial Intrahepatic Cholestasis ABCB11 AR - - ü ü

Propionic acidemia, PCCA-related PCCA AR - - ü ü

Propionic acidemia, PCCB-related PCCB AR - - ü ü

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Pycnodysostosis CTSK AR - - ü ü

Pyruvate carboxylase deficiency PC AR - - ü ü

Pyruvate dehydrogenase E1-alpha deficiency PDHA1 XL - - ü ü

Pyruvate dehydrogenase E1-beta deficiency PDHB AR - - ü ü

Renal tubular acidosis with deafness ATP6V1B1 AR - - ü ü

Retinitis pigmentosa 25 EYS AR - - ü ü

Retinitis pigmentosa 26 CERKL AR - - ü ü

Retinitis pigmentosa 28 FAM161A AR - - ü ü

Rhizomelic chondrodysplasia punctata, type 3 AGPS AR - - ü ü

Roberts syndrome ESCO2 AR - - ü ü

Sandhoff disease HEXB AR - - ü ü

Schimke immunoosseous dysplasia SMARCAL1 AR - - ü ü

Schopf-Schulz-Passarge syndrome; WNT10A AR ü ü Odontoonychodermal dysplasia - -

Segawa syndrome TH AR - - ü ü

Severe combined immunodeficiency with DCLRE1C AR ü ü sensitivity to ionizing radiation - -

Severe combined immunodeficiency, X-linked IL2RG XL - - ü ü

Severe Congenital Neutropenia, HAX1-related HAX1 AR - - ü ü

Severe congenital neutropenia, VPS45-related VPS45 AR - - ü ü

Short-chain acyl-coA dehydrogenase ACADS AR ü ü (SCAD) Deficiency - -

Sialic acid storage disorder SLC17A5 AR - - ü ü

Sjögren-Larsson syndrome ALDH3A2 AR - - ü ü

Spastic paraplegia 15 ZFYVE26 AR - - ü ü

Spastic paraplegia 49 TECPR2 AR - - ü ü

Spondylocostal dysostosis MESP2 AR - - ü ü

Steel syndrome COL27A1 AR - - ü ü

Stuve-Wiedemann syndrome LIFR AR - - ü ü

Systemic primary carnitine deficiency SLC22A5 AR - - ü ü

Tetrahydrobiopterin deficiency PTS AR - - ü ü

Trichohepatoenteric syndrome TTC37 AR - - ü ü

Tyrosinemia, type II TAT AR - - ü ü

Usher syndrome, type 1D CDH23 AR/Digenic - - ü ü

Usher syndrome, type 2A USH2A AR - - ü ü

Very long-chain acyl-CoA dehydrogenase ACADVL AR ü ü (VLCAD) deficiency - -

Wiskott-Aldrich syndrome; Thrombocytopenia, X-linked; WAS XL - - ü ü Severe Congenital Neutropenia, WAS-related

Wolcott-Rallison syndrome EIF2AK3 AR - - ü ü

Xeroderma pigmentosum, group A XPA AR - - ü ü

Xeroderma pigmentosum, group C XPC AR - - ü ü

Zellweger syndrome, PEX10-related PEX10 AR - - ü ü

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Zellweger syndrome, PEX12-related PEX12 AR - - ü ü

Zellweger syndrome, PEX6-related PEX6 AR - - ü ü

Alpha-1 antitrypsin deficiency SERPINA1 AR - - - ü

Butyrlcholinesterase deficiency BCHE AR - - - ü

Factor V deficiency F5 AR - - - ü

Familial hypercholesterolemia LDLRAP1 AR - - - ü

Familial lipoprotein lipase deficiency LPL AR - - - ü

Glucose-6-phosphate dehydrogenase deficiency G6PD XL - - - ü

Hemochromatosis, HFE-related HFE AR - - - ü

Homocystinuria, MTHFR-related MTHFR AR - - - ü

Prothrombin-related conditions F2 AR - - - ü

Allan-Herndon-Dudley syndrome SLC16A2 XL - - ü+ ü+ Catecholaminergic polymorphic ventricular CASQ2 AR tachycardia, CASQ2-related - - ü+ ü+

Catecholaminergic polymorphic ventricular TRDN AR tachycardia, TRDN-related - - ü+ ü+

Charcot-Marie-Tooth disease, GDAP1-related GDAP1 AR - - ü+ ü+

Charcot-Marie-Tooth disease, SH3TC2-related SH3TC2 AR - - ü+ ü+

Charcot-Marie-Tooth disease, SURF1-related SURF1 AR - - ü+ ü+

Charcot-Marie-Tooth disease, type 4B1 MTMR2 AR - - ü+ ü+ Childhood-onset severe retinal dystrophy, AIPL1 AR AIPL1-related - - ü+ ü+

Congenital hypothyroidism, TSHB-related TSHB AR - - ü+ ü+

Congential hypothyroidism, DUOX2-related DUOX2 AR - - ü+ ü+

Congential hypothyroidism, DUOXA2-related DUOXA2 AR - - ü+ ü+ Ehlers-Danlos syndrome with kyphoscoliosis, PLOD1 AR PLOD1-related - - ü+ ü+

Galactose epimerase deficiency GALE AR - - ü+ ü+

Glutamate formiminotransferase deficiency FTCD AR - - ü+ ü+

Hartnup disorder SLC6A19 AR - - ü+ ü+

Hereditary folate malabsorption SLC46A1 AR - - ü+ ü+

Hyperimmunoglobulinemia D syndrome MVK AR - - ü+ ü+ Hypermethioninemia due to adenosine kinase ADK AR deficiency - - ü+ ü+

Hypermethioninemia due to deficiency of AHCY AR S-adenosylhomocysteine hydrolase - - ü+ ü+

Hyperprolinemia type II ALDH4A1 AR - - ü+ ü+ Hypogonadotropic hypogonadism, GNRHR AR GNRHR-related - - ü+ ü+

Joubert syndrome, AHI1-related AHI1 AR - - ü+ ü+

Joubert syndrome, ARL13B-related ARL13B AR - - ü+ ü+

Lujan-Fryns syndrome, UPF3B-related UPF3B XL - - ü+ ü+

Lujan-Fryns syndrome, ZDHHC9-related ZDHHC9 XL - - ü+ ü+

Macular corneal dystrophy, CHST6-related CHST6 AR - - ü+ ü+

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

Methylmalonic aciduria and homocystinuria, LMBRD1 AR cblF type - - ü+ ü+

Methylmalonic aciduria and homocystinuria, ABCD4 AR cblJ type - - ü+ ü+

Methylmalonyl-CoA epimerase deficiency MCEE AR - - ü+ ü+

Microphthalmia, isolated 3 RAX AR - - ü+ ü+ Muscular dystrophy-dystroglycanopathy, POMT1 AR POMT1-related - - ü+ ü+

Muscular dystrophy-dystroglycanopathy, POMT2 AR POMT2-related - - ü+ ü+

Nonsyndromic hearing loss, OTOF-related OTOF AR - - ü+ ü+

Norrie disease NDP XL - - ü+ ü+

Osteogenesis imperfecta, type VIII P3H1 AR - - ü+ ü+ Pantothenate kinase-associated PANK2 AR neurodegeneration - - ü+ ü+

Phosphoglycerate kinase 1 deficiency PGK1 AR - - ü+ ü+

Renpenning syndrome PQBP1 XL - - ü+ ü+

Retinitis Pigmentosa, CNGA1-related CNGA1 AR - - ü+ ü+

Retinitis Pigmentosa, CNGB1-related CNGB1 AR - - ü+ ü+

Retinitis pigmentosa, IDH3B-related IDH3B AR - - ü+ ü+

Retinitis pigmentosa, PDE6A-related PDE6A AR - - ü+ ü+ Severe combined immunodeficiency, JAK3 AR JAK3-related - - ü+ ü+

Short branched chain acyl-CoA dehydrogenase ACADSB AR (SBCAD) deficiency - - ü+ ü+

Spastic paraplegia type 7 SPG7 AR - - ü+ ü+

SPG11-related Neuromuscular Disorders SPG11 AR - - ü+ ü+

Tetrahydrobiopterin deficiency, PCBD1-related PCBD1 AR - - ü+ ü+

Tetrahydrobiopterin deficiency, QDPR-related QDPR AR - - ü+ ü+

Thyroid dyshormonogenesis, IYD-related IYD AR - - ü+ ü+

Thyroid dyshormonogenesis, SLC5A5-related SLC5A5 AR - - ü+ ü+

Thyroid dyshormonogenesis, TG-related TG AR - - ü+ ü+

Thyroid dyshormonogenesis, TPO-related TPO AR - - ü+ ü+

Treacher Collins syndrome, POLR1C-related POLR1C AR - - ü+ ü+

Usher syndrome type 2D WHRN AR - - ü+ ü+

Usher syndrome type IG USH1G AR - - ü+ ü+

X-linked Aarskog-Scott syndrome FGD1 XL - - ü+ ü+

X-linked epilepsy with variable learning disabilities SYN1 XL - - ü+ ü+

X-linked hearing loss, POU3F4-related POU3F4 XL - - ü+ ü+ X-linked intellectual disability with cerebellar OPHN1 XL hypoplasia and distinctive facial appearance - - ü+ ü+

X-linked Intellectual disability, AP1S2-related AP1S2 XL - - ü+ ü+

X-linked intellectual disability, ARX-related ARX XL - - ü+ ü+

X-linked intellectual disability, BRWD3-related BRWD3 XL - - ü+ ü+

ACOG/ Expanded Focus Expanded Condition Gene Inheritance ACMG Plus (30 genes†) (401 genes†) (6 genes†) (410 genes†)

X-linked intellectual disability, CUL4B-related CUL4B XL - - ü+ ü+ X-linked intellectual disability, DLG3-related DLG3 XL - - ü+ ü+ X-linked intellectual disability, FTSJ1-related FTSJ1 XL - - ü+ ü+ X-linked intellectual disability, IL1RAPL1-related IL1RAPL1 XL - - ü+ ü+

X-linked intellectual disability, KDM5C-related KDM5C XL - - ü+ ü+

X-linked intellectual disability, PAK3-related PAK3 XL - - ü+ ü+

X-linked intellectual disability, Siderius type PHF8 XL - - ü+ ü+

X-linked Intellectual disability, THOC2-related THOC2 XL - - ü+ ü+

X-linked intellectual disability, ZNF711-related ZNF711 XL - - ü+ ü+

X-linked Ocular albinism, GPR143-related GPR143 XL - - ü+ ü+

X-linked Retinitis pigmentosa, RP2-related RP2 XL - - ü+ ü+

X-linked Retinitis pigmentosa, RPGR-related RPGR XL - - ü+ ü+