Beacon Carrier Screening Detecting 320+ Conditions

Coverage: 99% at 20x Deletion/Duplication: ≥ 2 exons Turnaround Time: 2 weeks*

Condition Gene Inheritance Analytical ACOG/ Focus Ashkenazi Expanded Expanded Detection ACMG (30 genes†) Jewish (326 genes†) Plus Rate‡ (6 genes†) (43 genes†) (335 genes†)

Alpha thalassemia HBA1/HBA2 AR 90% ü ü ü ü ü

Cystic fbrosis CFTR AR 99% ü ü ü ü ü

Fragile X syndrome FMR1 XL 99% ü ü ü ü ü

Sickle cell disease; Beta thalassemia HBB AR 95% ü ü ü ü ü

Spinal muscular atrophy SMN1 AR 91% ü ü ü ü ü

Bloom syndrome BLM AR 87% - ü ü ü ü

Canavan disease ASPA AR 97% - ü ü ü ü

Congenital disorder of glycosylation type PMM2 AR 99% - ü ü ü ü 1a

Familial dysautonomia ELP1 (IKBKAP) AR 99% - ü ü ü ü

Fanconi anemia group C FANCC AR 99% - ü ü ü ü

Galactosemia GALT AR 95% - ü ü ü ü

Gaucher disease GBA AR 99% - ü ü ü ü

Glycogen storage disease, type 1a G6PC AR 95% - ü ü ü ü

Niemann-Pick disease, type A/B SMPD1 AR 95% - ü ü ü ü

Polycystic kidney disease, PKHD1-related PKHD1 AR 98% - ü ü ü ü

Smith-Lemli-Opitz syndrome DHCR7 AR 96% - ü ü ü ü

Tay-Sachs disease HEXA AR 99% - ü ü ü ü

Tyrosinemia, type 1 FAH AR 95% - ü ü ü ü

Citrullinemia ASS1 AR 96% - ü - ü ü

Duchenne muscular dystrophy DMD XL 93% - ü - ü ü

Isovaleric acidemia IVD AR 90% - ü - ü ü

Medium-chain acyl-CoA dehydrogenase ACADM AR 98% - ü - ü ü (MCAD) defciency

Methylmalonic aciduria and homocystin- MMACHC AR 90% - ü - ü ü uria, cblC type

Mucopolysaccharidosis, type I (Hurler IDUA AR 95% - ü - ü ü syndrome)

Neuronal ceroid lipofuscinosis, CLN3-re- CLN3 AR 98% - ü - ü ü lated

Phenylalanine hydroxylase defciency PAH AR 99% - ü - ü ü (Phenylketonuria)

Pompe disease GAA AR 98% - ü - ü ü

Rhizomelic chondrodysplasia punctata, PEX7 AR 99% - ü - ü ü type 1

Zellweger syndrome, PEX1-related PEX1 AR 95% - ü - ü ü

FulgentGenetics.com *Turnaround time may vary if specimen requires additional confrmatory 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. v1.4 ‡Please visit our website for ethnicity-specifc analytical detection rates. Condition Gene Inheritance Analytical ACOG/ Focus Ashkenazi Expanded Expanded Detection ACMG (30 genes†) Jewish (326 genes†) Plus Rate‡ (6 genes†) (43 genes†) (335 genes†)

Abetalipoproteinemia MTTP AR 98% - - ü ü ü

Alport syndrome, COL4A3-related COL4A3 AR 98% - - ü ü ü

Arthrogryposis, mental retardation, and SLC35A3 AR 98% - - ü ü ü seizures

Bardet-Biedl syndrome 2; Retinitis Pigmen- BBS2 AR 99% - - ü ü ü tosa 74

Carnitine palmitoyltransferase II defciency CPT2 AR 95% - - ü ü ü

Congenital amegakaryocytic thrombocy- MPL AR 98% - - ü ü ü topenia

Dihydrolipoamide dehydrogenase def- DLD AR 98% - - ü ü ü ciency

Dyskeratosis congenita type 5 RTEL1 AR 99% - - ü ü ü

Ehlers-Danlos syndrome, Dermatosparaxis ADAMTS2 AR 98% - - ü ü ü type VIIC

Factor XI defciency F11 AR 98% - - ü ü ü

Familial hyperinsulinism, ABCC8-related ABCC8 AR 98% - - ü ü ü

Joubert syndrome 2; Meckel syndrome 2 TMEM216 AR 98% - - ü ü ü

Maple syrup urine disease type Ia BCKDHA AR 98% - - ü ü ü

Maple syrup urine disease type Ib BCKDHB AR 98% - - ü ü ü

Mucolipidosis IV MCOLN1 AR 99% - - ü ü ü

Multiple sulfatase defciency SUMF1 AR 98% - - ü ü ü

Muscular dystrophy-dystroglycanopathy, FKTN AR 99% - - ü ü ü FKTN-related; Fukuyama congenital muscular dystrophy

Nemaline myopathy NEB AR 98% - - ü ü ü

Non-syndromic hearing loss, PCDH15-re- PCDH15 AR/Digenic 98% - - ü ü ü lated; Usher syndrome, type 1F

Phosphoglycerate dehydrogenase def- PHGDH AR 98% - - ü ü ü ciency

Retinitis pigmentosa 59 DHDDS AR 98% - - ü ü ü

Usher syndrome, type 3A CLRN1 AR 98% - - ü ü ü

Wilson disease ATP7B AR 98% - - ü ü ü

Zellweger syndrome, PEX2-related PEX2 AR 95% - - ü ü ü

3-Hydroxy-3-methylglutaryl-CoA lyase HMGCL AR 98% - - - ü ü defciency

3-Ketothiolase defciency ACAT1 AR 98% - - - ü ü

3-Methylcrotonyl-CoA carboxylase 1 def- MCCC1 AR 98% - - - ü ü ciency (3-MCC defciency)

3-Methylcrotonyl-CoA carboxylase 2 def- MCCC2 AR 98% - - - ü ü ciency (3-MCC defciency)

Achondrogenesis, type IB; Atelosteogen- SLC26A2 AR 90% - - - ü ü esis II; Diastrophic dysplasia; Multiple epiphyseal dysplasia

Achromatopsia CNGB3 AR 99% - - - ü ü

Acrodermatitis enteropathica SLC39A4 AR 98% - - - ü ü

Acyl-CoA dehydrogenase-9 (ACAD9) ACAD9 AR 98% - - - ü ü Defciency

Adenosine deaminase defciency ADA AR 93% - - - ü ü

Adrenoleukodystrophy, X-linked ABCD1 XL 99% - - - ü ü

Aicardi-Goutieres syndrome SAMHD1 AR 95% - - - ü ü

Alkaptonuria HGD AR 90% - - - ü ü

Alpha thalassemia X-linked intellectual ATRX XL 99% - - - ü ü disability syndrome

Alpha-mannosidosis MAN2B1 AR 99% - - - ü ü

Alport syndrome, COL4A4-related COL4A4 AR 98% - - - ü ü

Alport syndrome, COL4A5-related COL4A5 XL 98% - - - ü ü

Alstrom syndrome ALMS1 AR 98% - - - ü ü

Anauxetic dysplasia; Cartilage-hair RMRP AR 99% - - - ü ü hypoplasia; Metaphyseal dysplasia without hypotrichosis

Andermann syndrome SLC12A6 AR 98% - - - ü ü

Arginase defciency ARG1 AR 98% - - - ü ü

Argininosuccinate lyase defciency ASL AR 90% - - - ü ü

Aromatase defciency CYP19A1 AR 98% - - - ü ü

Arts syndrome; Rosenberg-Chutorian PRPS1 XL 98% - - - ü ü syndrome; Phosphoribosylpyrophosphate synthetase superactivity; Non-syndromic hearing loss, PRPS1-related

Asparagine synthetase defciency ASNS AR 98% - - - ü ü

Aspartylglucosaminuria AGA AR 98% - - - ü ü

Ataxia with isolated vitamin E defciency TTPA AR 98% - - - ü ü

Ataxia-telangiectasia ATM AR 92% - - - ü ü

Autoimmune polyendocrinopathy syn- AIRE AR 98% - - - ü ü drome type I

Autosomal Recessive Spastic Ataxia of SACS AR 95% - - - ü ü Charlevoix-Saguenay

Bardet-Biedl syndrome 14; Joubert CEP290 AR 98% - - - ü ü syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Senior-Løken syndrome 6

Bardet-Biedl syndrome type 1 BBS1 AR 99% - - - ü ü

Bardet-Biedl syndrome type 10 BBS10 AR 99% - - - ü ü

Bardet-Biedl syndrome type 12 BBS12 AR 99% - - - ü ü

Bare lymphocyte syndrome, type II CIITA AR 98% - - - ü ü

Bartter syndrome BSND AR 98% - - - ü ü

Bernard-Soulier syndrome type A1 GP1BA AR 98% - - - ü ü

Bernard-Soulier syndrome type C GP9 AR 98% - - - ü ü

Bilateral frontoparietal polymicrogyria ADGRG1 AR 98% - - - ü ü

Biotinidase defciency BTD AR 99% - - - ü ü

Björnstad syndrome; GRACILE syndrome; BCS1L AR 98% - - - ü ü Mitochondrial complex III defciency

Carbamoylphosphate synthetase I CPS1 AR 98% - - - ü ü defciency

Carnitine palmitoyltransferase IA def- CPT1A AR 90% - - - ü ü ciency

Carnitine-acylcarnitine translocase SLC25A20 AR 98% - - - ü ü defciency

Carpenter syndrome RAB23 AR 98% - - - ü ü

Cerebrotendinous xanthomatosis CYP27A1 AR 98% - - - ü ü

Charcot-Marie-Tooth disease, type 4D NDRG1 AR 98% - - - ü ü

Charcot-Marie-Tooth disease, X-linked GJB1 XL 90% - - - ü ü type 1

Chediak-Higashi syndrome LYST AR 90% - - - ü ü

Chondrodysplasia punctata type 1, ARSE XL 98% - - - ü ü X-linked

Choreoacanthocytosis VPS13A AR 98% - - - ü ü

Choroideremia CHM XL 95% - - - ü ü

Chronic granulomatous disease CYBA AR 99% - - - ü ü

Chronic granulomatous disease, X-linked CYBB XL 99% - - - ü ü

Citrin defciency SLC25A13 AR 95% - - - ü ü

Cockayne syndrome type A ERCC8 AR 98% - - - ü ü

Cockayne syndrome type B; De Sanc- ERCC6 AR 99% - - - ü ü tis-Cacchione syndrome

Cohen syndrome VPS13B AR 98% - - - ü ü

Combined malonic and methylmalonic ACSF3 AR 98% - - - ü ü aciduria

Combined oxidative phosphorylation GFM1 AR 98% - - - ü ü defciency, GFM1-related

Combined oxidative phosphorylation TSFM AR 98% - - - ü ü defciency, TSFM-related

Combined pituitary hormone defciency 2 PROP1 AR 98% - - - ü ü

Combined pituitary hormone defciency 3 LHX3 AR 98% - - - ü ü

Congenital adrenal hyperplasia due to CYP11B1 AR 98% - - - ü ü 11-beta-hydroxylase defciency

Congenital adrenal hyperplasia due to CYP17A1 AR 98% - - - ü ü 17-alpha-hydroxylase defciency

Congenital adrenal hyperplasia due to CYP21A2 AR 99% - - - ü ü 21-hydroxylase defciency

Congenital adrenal hyperplasia due to HSD3B2 AR 98% - - - ü ü 3-beta-hydroxysteroid dehydrogenase 2 defciency

Congenital adrenal hypoplasia, X-linked NR0B1 XL 99% - - - ü ü

Congenital disorder of glycosylation type MPI AR 98% - - - ü ü Ib

Congenital disorder of glycosylation type Ic ALG6 AR 98% - - - ü ü

Congenital hyperinsulinism; Permanent KCNJ11 AR 99% - - - ü ü neonatal diabetes mellitus

Congenital ichthyosis TGM1 AR 95% - - - ü ü

Congenital insensitivity to pain with NTRK1 AR 99% - - - ü ü anhidrosis

Congenital myasthenic syndrome, CHRNE AR 99% - - - ü ü CHRNE-related

Congenital myasthenic syndrome, RAPSN AR 99% - - - ü ü RAPSN-related; Fetal akinesia deformation sequence

Congenital nephrotic syndrome, type 1 NPHS1 AR 98% - - - ü ü

Congenital nephrotic syndrome, type 2 NPHS2 AR 98% - - - ü ü

Congenital secretory chloride diarrhea SLC26A3 AR 98% - - - ü ü

Corneal endothelial dystrophy SLC4A11 AR 98% - - - ü ü

Corticosterone methyloxidase defciency CYP11B2 AR 98% - - - ü ü

Costeff syndrome OPA3 AR 98% - - - ü ü

Creatine defciency syndrome SLC6A8 XL 98% - - - ü ü

Crigler-Najjar syndrome UGT1A1 AR 98% - - - ü ü

Cystinosis CTNS AR 99% - - - ü ü

D-bifunctional protein defciency HSD17B4 AR 98% - - - ü ü

Dent disease 2; Lowe syndrome OCRL XL 95% - - - ü ü

Dihydropyrimidine dehydrogenase def- DPYD AR 98% - - - ü ü ciency

Dystrophic epidermolysis bullosa COL7A1 AR 97% - - - ü ü

Ellis-van Creveld syndrome, EVC2-related; EVC2 AR 98% - - - ü ü Weyers acrodental dysostosis, EVC2-related

Ellis-van Creveld syndrome, EVC-related; EVC AR 98% - - - ü ü Weyers acrofacial dysostosis, EVC-related

Emery-Dreifuss muscular dystrophy EMD XL 99% - - - ü ü

Enhanced S-cone syndrome; Retinitis NR2E3 AR 98% - - - ü ü pigmentosa 37

Ethylmalonic encephalopathy ETHE1 AR 98% - - - ü ü

Fabry disease GLA XL 99% - - - ü ü

Familial Mediterranean fever MEFV AR 99% - - - ü ü

Fanconi anemia group A FANCA AR 98% - - - ü ü

Fanconi anemia group G FANCG AR 90% - - - ü ü

Fumarase defciency FH AR 90% - - - ü ü

Galactokinase defciency GALK1 AR 95% - - - ü ü

Gitelman syndrome SLC12A3 AR 98% - - - ü ü

Glutaric aciduria IIA ETFA AR 98% - - - ü ü

Glutaric aciduria IIB ETFB AR 98% - - - ü ü

Glutaric aciduria IIC ETFDH AR 98% - - - ü ü

Glutaric aciduria, type I GCDH AR 98% - - - ü ü

Glycine encephalopathy, AMT-related AMT AR 98% - - - ü ü

Glycine encephalopathy, GLDC-related GLDC AR 98% - - - ü ü

Glycogen storage disease IV GBE1 AR 99% - - - ü ü

Glycogen storage disease type III AGL AR 95% - - - ü ü

Glycogen storage disease type V PYGM AR 99% - - - ü ü

Glycogen storage disease VII PFKM AR 98% - - - ü ü

Glycogen storage disease, type Ib SLC37A4 AR 95% - - - ü ü

Guanidinoacetate methyltransferase GAMT AR 99% - - - ü ü defciency

Gyrate atrophy of choroid and retina OAT AR 98% - - - ü ü

Hemochromatosis, type 2A HJV (HFE2) AR 99% - - - ü ü

Hemochromatosis, type 3 TFR2 AR 98% - - - ü ü

Hemophilia A F8 XL 48% - - - ü ü

Hemophilia B F9 XL 99% - - - ü ü

Hepatocerebral mitochondrial DNA deple- MPV17 AR 96% - - - ü ü tion syndrome, MPV17-related

Hereditary fructose intolerance ALDOB AR 99% - - - ü ü

Hermansky-Pudlak syndrome 1 HPS1 AR 98% - - - ü ü

Hermansky-Pudlak syndrome 3 HPS3 AR 98% - - - ü ü

Holocarboxylase synthetase defciency HLCS AR 98% - - - ü ü

Homocystinuria due to cystathionine CBS AR 99% - - - ü ü beta-synthase defciency

Homocystinuria-megaloblastic anemia, MTRR AR 98% - - - ü ü cobalamin E type

Hydrolethalus syndrome HYLS1 AR 98% - - - ü ü

Hyper IgM syndrome, X-linked CD40LG XL 98% - - - ü ü

Hyperornithinemia-hyperammonemia-ho- SLC25A15 AR 99% - - - ü ü mocitrullinemia syndrome (Triple H syndrome)

Hypohidrotic ectodermal dysplasia EDA XL 99% - - - ü ü

Hypophosphatasia ALPL AR 95% - - - ü ü

Inclusion body myopathy type 2 (Nonaka GNE AR 80% - - - ü ü myopathy)

Infantile neuroaxonal dystrophy PLA2G6 AR 97% - - - ü ü

Joubert syndrome 28; Meckel syndrome 1; MKS1 AR 98% - - - ü ü Bardet-Biedl syndrome 13

Joubert syndrome 4; Senior-Løken syn- NPHP1 AR 98% - - - ü ü drome 1; Nephronophthisis

Junctional epidermolysis bullosa, LA- LAMA3 AR 98% - - - ü ü MA3-related; Laryngo-onycho-cutaneous syndrome

Junctional epidermolysis bullosa, LAMB3 AR 98% - - - ü ü LAMB3-related

Junctional epidermolysis bullosa, LAMC2 AR 98% - - - ü ü LAMC2-related

Juvenile retinoschisis, X-linked RS1 XL 96% - - - ü ü

Krabbe disease GALC AR 99% - - - ü ü

L1 syndrome L1CAM XL 99% - - - ü ü

Leber congenital amaurosis 2; Retinitis RPE65 AR 98% - - - ü ü pigmentosa 20

Leber congenital amaurosis 5 LCA5 AR 98% - - - ü ü

Leber congenital amaurosis 8; Retinitis CRB1 AR 98% - - - ü ü pigmentosa 12

Leber congenital amaurosis type 13 RDH12 AR 98% - - - ü ü

Leigh syndrome with Complex IV def- LRPPRC AR 98% - - - ü ü ciency

Lethal congenital contracture syndrome 1 GLE1 AR 98% - - - ü ü

Leukoencephalopathy with vanishing EIF2B5 AR 98% - - - ü ü white matter

Limb-girdle muscular dystrophy type 2A CAPN3 AR 98% - - - ü ü

Limb-girdle muscular dystrophy type 2B DYSF AR 95% - - - ü ü

Limb-girdle muscular dystrophy, type 2C SGCG AR 98% - - - ü ü

Limb-girdle muscular dystrophy, type 2D SGCA AR 98% - - - ü ü

Limb-girdle muscular dystrophy, type 2E SGCB AR 98% - - - ü ü

Limb-girdle muscular dystrophy, type 2F SGCD AR 98% - - - ü ü

Limb-girdle muscular dystrophy, type 2H; TRIM32 AR 98% - - - ü ü Bardet-Biedl syndrome 11

Lipoid congenital adrenal hyperplasia STAR AR 98% - - - ü ü

Lissencephaly, X-linked DCX XL 98% - - - ü ü

Liver failure, acute infantile TRMU AR 98% - - - ü ü

Long-chain 3-hydroxyacyl-CoA dehydro- HADHA AR 98% - - - ü ü genase (LCHAD) defciency; Trifunctional protein defciency

Lysinuric protein intolerance SLC7A7 AR 95% - - - ü ü

Lysosomal acid lipase defciency LIPA AR 99% - - - ü ü

Maple syrup urine disease, type II DBT AR 98% - - - ü ü

Meckel syndrome 5; Joubert syndrome 7; RPGRIP1L AR 98% - - - ü ü COACH syndrome

Megalencephalic leukoencephalopathy MLC1 AR 97% - - - ü ü with subcortical cysts

Menkes disease ATP7A XL 99% - - - ü ü

Metachromatic leukodystrophy ARSA AR 95% - - - ü ü

Metachromatic leukodystrophy due to PSAP AR 98% - - - ü ü saposin-b defciency

Methylmalonic acidemia, MUT-related MUT AR 96% - - - ü ü

Methylmalonic aciduria and homocystin- MMADHC AR 98% - - - ü ü uria, cblD type

Methylmalonic aciduria, cblA type MMAA AR 97% - - - ü ü

Methylmalonic aciduria, cblB type MMAB AR 98% - - - ü ü

Microphthalmia with or without coloboma VSX2 AR 98% - - - ü ü

Mitochondrial complex I defciency (Leigh NDUFAF5 AR 98% - - - ü ü syndrome), NDUFAF5-related

Mitochondrial complex I defciency (Leigh NDUFS6 AR 98% - - - ü ü syndrome), NDUFS6-related

Mitochondrial myopathy and sideroblastic PUS1 AR 98% - - - ü ü anemia 1

Mitochondrial neurogastrointestinal TYMP AR 98% - - - ü ü encephalopathy (MNGIE) disease

Mucolipidosis III alpha/beta; Mucolipidosis GNPTAB AR 95% - - - ü ü II alpha/beta

Mucolipidosis III gamma GNPTG AR 95% - - - ü ü

Mucopolysaccharidosis IIIA (Sanflippo SGSH AR 98% - - - ü ü syndrome A)

Mucopolysaccharidosis IIID (Sanflippo GNS AR 98% - - - ü ü syndrome D)

Mucopolysaccharidosis IVA (Morquio GALNS AR 97% - - - ü ü syndrome A)

Mucopolysaccharidosis type II (Hunter IDS XL 91% - - - ü ü syndrome)

Mucopolysaccharidosis type IIIB (Sanflip- NAGLU AR 99% - - - ü ü po syndrome B)

Mucopolysaccharidosis type IIIC (Sanflip- HGSNAT AR 98% - - - ü ü po syndrome C)

Mucopolysaccharidosis type IVB (Morquio GLB1 AR 99% - - - ü ü syndrome B); GM1-gangliosidosis

Mucopolysaccharidosis type IX HYAL1 AR 98% - - - ü ü

Mucopolysaccharidosis type VI (Maro- ARSB AR 98% - - - ü ü teaux-Lamy syndrome)

Mucopolysaccharidosis type VII GUSB AR 98% - - - ü ü

Multiple pterygium syndrome CHRNG AR 98% - - - ü ü

Muscular dystrophy, LAMA2-related LAMA2 AR 99% - - - ü ü

Muscular dystrophy-dystroglycanopathy, FKRP AR 98% - - - ü ü FKRP-related

Muscular dystrophy-dystroglycanopathy; POMGNT1 AR 98% - - - ü ü Retinitis pigmentosa 76

Myotubular myopathy, X-linked MTM1 XL 98% - - - ü ü

N-acetylglutamate synthase defciency NAGS AR 98% - - - ü ü

Nephrogenic diabetes insipidus AQP2 AR 95% - - - ü ü

Neuronal ceroid lipofuscinosis, CLN5-re- CLN5 AR 95% - - - ü ü lated

Neuronal ceroid lipofuscinosis, CLN6-re- CLN6 AR 92% - - - ü ü lated

Neuronal ceroid lipofuscinosis, CLN8-re- CLN8 AR 95% - - - ü ü lated

Neuronal ceroid lipofuscinosis, MFSD8-re- MFSD8 AR 95% - - - ü ü lated

Neuronal ceroid lipofuscinosis, PPT1-re- PPT1 AR 98% - - - ü ü lated

Neuronal ceroid lipofuscinosis, TPP1-re- TPP1 AR 97% - - - ü ü lated

Niemann-Pick disease, type C1 NPC1 AR 90% - - - ü ü

Niemann-Pick disease, type C2 NPC2 AR 99% - - - ü ü

Nijmegen breakage syndrome NBN AR 99% - - - ü ü

Nonsyndromic hearing loss, GJB2-related GJB2 AR 99% - - - ü ü

Nonsyndromic hearing loss, GJB6-related GJB6 AR 99% - - - ü ü

Nonsyndromic hearing loss, LOXHD1-re- LOXHD1 AR 98% - - - ü ü lated

Non-syndromic hearing loss, MYO7A-relat- MYO7A AR 98% - - - ü ü ed; Usher syndrome, type 1B

Non-syndromic hearing loss, USH1C-relat- USH1C AR 90% - - - ü ü ed; Usher syndrome, type IC

Omenn syndrome, RAG1-related RAG1 AR 98% - - - ü ü

Omenn syndrome, RAG2-related RAG2 AR 98% - - - ü ü

Ornithine transcarbamylase defciency OTC XL 90% - - - ü ü

Osteopetrosis, TCIRG1-related TCIRG1 AR 98% - - - ü ü

Pendred syndrome SLC26A4 AR 98% - - - ü ü

Peroxisomal acyl-CoA oxidase defciency ACOX1 AR 98% - - - ü ü

Pontocerebellar hypoplasia type 1A VRK1 AR 98% - - - ü ü

Pontocerebellar hypoplasia type 1B EXOSC3 AR 98% - - - ü ü

Pontocerebellar hypoplasia type 6 RARS2 AR 98% - - - ü ü

Pontocerebellar hypoplasia, type 2D SEPSECS AR 98% - - - ü ü

Postnatal progressive microcephaly with MED17 AR 99% - - - ü ü seizures and brain atrophy

Primary ciliary dyskinesia, DNAH5-related DNAH5 AR 98% - - - ü ü

Primary ciliary dyskinesia, DNAI1-related DNAI1 AR 98% - - - ü ü

Primary ciliary dyskinesia, DNAI2-related DNAI2 AR 98% - - - ü ü

Primary ciliary dyskinesia, DNAL1-related DNAL1 AR 98% - - - ü ü

Primary ciliary dyskinesia, type 14 CCDC39 AR 98% - - - ü ü

Primary ciliary dyskinesia, type 17 CCDC103 AR 98% - - - ü ü

Primary ciliary dyskinesia, type 30 CCDC151 AR 98% - - - ü ü

Primary congenital glaucoma CYP1B1 AR 99% - - - ü ü

Primary hyperoxaluria type 1 AGXT AR 99% - - - ü ü

Primary Hyperoxaluria type II GRHPR AR 99% - - - ü ü

Primary hyperoxaluria type III HOGA1 AR 99% - - - ü ü

Progressive external ophthalmoplegia; POLG AR 95% - - - ü ü Alpers-Huttenlocher syndrome; Ataxia neuropathy spectrum; Myocerebrohepa- topathy syndrome

Progressive Familial Intrahepatic Cholesta- ABCB11 AR 98% - - - ü ü sis

Propionic acidemia, PCCA-related PCCA AR 96% - - - ü ü

Propionic acidemia, PCCB-related PCCB AR 99% - - - ü ü

Pycnodysostosis CTSK AR 98% - - - ü ü

Pyruvate carboxylase defciency PC AR 95% - - - ü ü

Pyruvate dehydrogenase E1-alpha def- PDHA1 XL 98% - - - ü ü ciency

Pyruvate dehydrogenase E1-beta def- PDHB AR 98% - - - ü ü ciency

Renal tubular acidosis with deafness ATP6V1B1 AR 98% - - - ü ü

Retinitis pigmentosa 25 EYS AR 98% - - - ü ü

Retinitis pigmentosa 26 CERKL AR 98% - - - ü ü

Retinitis pigmentosa 28 FAM161A AR 98% - - - ü ü

Rhizomelic chondrodysplasia punctata, AGPS AR 98% - - - ü ü type 3

Roberts syndrome ESCO2 AR 99% - - - ü ü

Sandhoff disease HEXB AR 98% - - - ü ü

Schimke immunoosseous dysplasia SMARCAL1 AR 90% - - - ü ü

Schopf-Schulz-Passarge syndrome; Odon- WNT10A AR 99% - - - ü ü toonychodermal dysplasia

Segawa syndrome TH AR 98% - - - ü ü

Severe combined immunodefciency with DCLRE1C AR 98% - - - ü ü sensitivity to ionizing radiation

Severe combined immunodefciency, IL2RG XL 99% - - - ü ü X-linked

Severe Congenital Neutropenia, HAX1-re- HAX1 AR 98% - - - ü ü lated

Severe congenital neutropenia, VPS45-re- VPS45 AR 98% - - - ü ü lated

Short-chain acyl-coA dehydrogenase ACADS AR 99% - - - ü ü (SCAD) Defciency

Sialic acid storage disorder SLC17A5 AR 91% - - - ü ü

Sjögren-Larsson syndrome ALDH3A2 AR 98% - - - ü ü

Spastic paraplegia 15 ZFYVE26 AR 98% - - - ü ü

Spastic paraplegia 49 TECPR2 AR 98% - - - ü ü

Spondylocostal dysostosis MESP2 AR 98% - - - ü ü

Steel syndrome COL27A1 AR 98% - - - ü ü

Stuve-Wiedemann syndrome LIFR AR 98% - - - ü ü

Systemic primary carnitine defciency SLC22A5 AR 76% - - - ü ü

Tetrahydrobiopterin defciency PTS AR 96% - - - ü ü

Trichohepatoenteric syndrome TTC37 AR 98% - - - ü ü

Tyrosinemia, type II TAT AR 98% - - - ü ü

Usher syndrome, type 1D CDH23 AR/Digenic 90% - - - ü ü

Usher syndrome, type 2A USH2A AR 96% - - - ü ü

Very long-chain acyl-CoA dehydrogenase ACADVL AR 93% - - - ü ü (VLCAD) defciency

Wiskott-Aldrich syndrome; Thrombo- WAS XL 99% - - - ü ü cytopenia, X-linked; Severe Congenital Neutropenia, WAS-related

Wolcott-Rallison syndrome EIF2AK3 AR 98% - - - ü ü

Xeroderma pigmentosum, group A XPA AR 99% - - - ü ü

Xeroderma pigmentosum, group C XPC AR 99% - - - ü ü

Zellweger syndrome, PEX10-related PEX10 AR 95% - - - ü ü

Zellweger syndrome, PEX12-related PEX12 AR 95% - - - ü ü

Zellweger syndrome, PEX6-related PEX6 AR 95% - - - ü ü

Alpha-1 antitrypsin defciency SERPINA1 AR 95% - - - - ü

Butyrlcholinesterase defciency BCHE AR 99% - - - - ü

Factor V defciency F5 AR 99% - - - - ü

Familial hypercholesterolemia LDLRAP1 AR 99% - - - - ü

Familial lipoprotein lipase defciency LPL AR 99% - - - - ü

Glucose-6-phosphate dehydrogenase G6PD XL 98% - - - - ü defciency

Hemochromatosis, HFE-related HFE AR 99% - - - - ü

Homocystinuria, MTHFR-related MTHFR AR 98% - - - - ü

Prothrombin-related conditions F2 AR 99% - - - - ü

*Turnaround time may vary if specimen requires additional confrmatory 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.

Phone (USA) Fax Email v1.4 (+1) 626-350-0537 (+1) 626-454-1667 [email protected] Shipping Address CLIA: 05D2043189 CLF: 00342581 CAP: 8042697 4978 Santa Anita Ave., Suite 205, Temple City, California 91780