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Beacon Carrier Screening Detecting 400+ Conditions

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Beacon Carrier Screening Detecting 400+ Conditions Beacon Carrier Screening Detecting 400+ Conditions 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. 4978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667 2019 © Fulgent Genetics. All Rights Reserved. D#FLY-Beacon_Genes_Conds_v2 1 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 - - * 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. 4978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667 2019 © Fulgent Genetics. All Rights Reserved. D#FLY-Beacon_Genes_Conds_v2 2 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 * 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. 4978 Santa Anita Ave, Suite 205, Temple City, CA 91780 | www.FulgentGenetics.com | [email protected] | P +1 626.350.0537 | F +1 626.454.1667 2019 © Fulgent Genetics. All Rights Reserved. D#FLY-Beacon_Genes_Conds_v2 3 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
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