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Beacon Carrier Screening Detecting 320+ Conditions

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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 mus- cular 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 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†) 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 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†) 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 FulgentGenetics.com *Turnaround time may vary if specimen requires additional confrmatory testing.
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    A mouse forward genetics screen identifies INAUGURAL ARTICLE LISTERIN as an E3 ubiquitin ligase involved in neurodegeneration Jessie Chua,1, Nancy A. Hongb,2, Claudio A. Masudac,3, Brian V. Jenkinsa, Keats A. Nelmsd, Christopher C. Goodnowd, Richard J. Glynnec, Hua Wub,4, Eliezer Masliahe, Claudio A. P. Joazeiroc,5, and Steve A. Kaya,6,7 aDepartment of Biochemistry, Institute for Childhood and Neglected Diseases, The Scripps Research Institute, ICND216, 10550 North Torrey Pines Road, La Jolla, CA 90237; bPhenomix Corporation, 5871 Oberlin Drive, Suite 200, San Diego, CA 92121; cGenomics Institute of the Novartis Research Foundation, 10675 John Jay Hopkins Drive, San Diego, CA 92121; dPhenomix Australia, Pty., Ltd., Level 3 Building 117, Australian Phenomics Facility, Garran Road, Acton, ACT 2601, Australia; and eDepartment of Neurosciences, University of California San Diego, School of Medicine, La Jolla, CA 92093 This contribution is part of the special series of Inaugural Articles by members of the National Academy of Sciences elected in 2008. Contributed by Steve A. Kay, December 19, 2008 (sent for review November 13, 2008) A mouse neurological mutant, lister, was identified through a ENU generated a rat model for human Usher syndrome type 1B genome-wide N-ethyl-N-nitrosourea (ENU) mutagenesis screen. (9). Further, ENU-induced mutation in dynein led to progressive Homozygous lister mice exhibit profound early-onset and progres- motor neuron degeneration in mice (10). Although no human sive neurological and motor dysfunction. lister encodes a RING disease has yet been mapped to dynein itself, mutation in the finger protein, LISTERIN, which functions as an E3 ubiquitin ligase dynein activator, dynactin, causes degeneration of lower motor in vitro.
  • The University of Chicago Genetic Services Laboratories

    The University of Chicago Genetic Services Laboratories

    The University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room G701/MC0077, Chicago, IL 60637 Toll Free: 888.824.3637 | Local: 773.834.0555 | Fax: 773-702-9130 [email protected] | dnatesting.uchicago.edu | CLIA#: 14D0917593 | CAP#: 18827-49 QUICK GUIDE TO GENETIC TESTING TEST DISORDER CPT TAT COST Aceruloplasminemia testing CP sequencing 81406 4 weeks $2,200 Aceruloplasminemia CP deletion/duplication 81405 4 weeks $1,000 Albinism testing Albinism Sequencing Panel (20 genes sequencing)** 81407 8 weeks $3,500 Albinism Deletion/Duplication Panel (20 genes deletion/duplication analysis) 81407 6 weeks $2,500 Alstrom syndrome testing ALMS1 sequencing 81406 4 weeks $1,700 Alstrom syndrome ALMS1 deletion/duplication 81405 4 weeks $1,000 Alternating Hemiplegia of Childhood testing ATP1A3 sequencing Alternating hemiplegia of childhood 81406 4 weeks $2,025 Angelman syndrome MS-MLPA (detects methylation and deletions in 15q11- 81331 4 weeks $525 13) UPD 15 testing (requires samples from both parents 81402 4 weeks $540 also) Angelman syndrome Imprinting center deletion analysis 81403 4 weeks $450 UBE3A sequencing 81406 4 weeks $1,500 UBE3A deletion/duplication 81405 4 weeks $1,000 SLC9A6 sequencing 81406 4 weeks $1,500 X-linked Angelman-like syndrome SLC9A6 deletion/duplication 81405 4 weeks $1,000 Angelman Syndrome Tier 2 Panel ( MECP2,TCF4, SLC9A6 and UBE3A sequencing and 81479 4 weeks $4,400 deletion/duplication) Rett/Angelman Syndrome Sequencing Panel (21 genes sequencing)** 81407 8 weeks $4,400 Rett/Angelman