HERES Carrier Screening TEST
|
|
|
- Suzanna Casey
- 5 years ago
- Views:
Transcription
1 LISTADO DE ENFERMEDADES ANALIZADAS HERES Carrier Screening TEST 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 17-Alpha-Hydroxylase Deficiency 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 21-Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia 21-Hydroxylase-Deficient Non classical Congenital Adrena lhyperplasia 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCA Related 3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCB Related 3-Methylglutaconic Aciduria: Type 3 3-Phosphoglycerate Dehydrogenase Deficiency 5-Alpha Reductase Deficiency 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Abetalipoproteinemia Acrodermatitis Enteropathica Acute Infantile Liver Failure: TRMURelated Acyl-CoAOxidaseI Deficiency Adenosine Deaminase Deficiency Adrenoleuko dystrophy: X-Linked Alkaptonuria Alpha-1-Antitrypsin Deficiency Alpha-Mannosidosis Alpha Thalassemia Alport Syndrome: COL4A3 Related Alport Syndrome: COL4A4 Related Alport Syndrome: X-linked Amegakaryocytic Thrombocytopenia Andermann Syndrome Androgen Insensitivity Syndrome: Complete Antley-Bixler Syndrome Argininemia Argininosuccinate Lyase Deficiency AromataseDeficiency ARSACS Arthrogryposis,Mental Retardation, & Seizures (AMRS) Arts Syndrome Asparagine Synthetase Deficiency Aspartylglycosaminuria Ataxia-Telangiectasia Ataxia with Vitamin E Deficiency Autosomal Recessive Polycystic Kidney Disease Bardet-Biedl Syndrome: BBS11 Related Bardet-Biedl Syndrome: BBS10 Related CYP11B1 CYP17A1 HSD17B3 CYP21A2 CYP21A2 HSD3B2 MCCA MCCB OPA3 PHGDH SRD5A2 PTS MTTP SLC39A4 TRMU ACOX1 AMPD1 ABCD1 HGD SERPINA1 MAN2B1 HBA1,HBA2 COL4A3 COL4A4 COL4A5 MPL SLC12A6 AR POR ARG1 ASL CYP19A1 SACS SLC35A3 AGA PRPS1 ASNS TTPA ATM PKHD1 TRIM32 BBS10
2 Bardet-Biedl Syndrome: BBS12 Related Bardet-Biedl Syndrome: BBS1 Related Bardet-Biedl Syndrome: BBS2 Related Bare Lymphocyte Syndrome: Type II Bartter Syndrome:Type 4A Beta-Hexosaminidase Pseudodeficiency Beta-Ketothiolase Deficiency Beta Thalassemia Biotinidase Deficiency Bloom Syndrome Canavan Disease Carnitine-Acylcarnitine Translocase Deficiency Carnitine Palmitoyltransferase I A Deficiency Carnitine Palmitoyltransferase II Deficiency Carpenter Syndrome Cartilage-Hair Hypoplasia Cerebrotendinous Xanthomatosis Charcot-Marie-Tooth Disease with Deafness: X-Linked: GJB1 Related Charcot-Marie-Tooth Disease with Deafness: X-Linked: PRPS1 Related Chediak-Higashi Syndrome Cholesteryl Ester Storage Disease Choreoacanthocytosis Choroideremia Chronic Granulomatous Disease: CYBA Related Chronic Granulomatous Disease: X-Linked Citrin Deficiency Citrullinemia: Type I Classical Galactosemia Cockayne Syndrome:TypeA Cockayne Syndrome:TypeB Cohen Syndrome Combined Pituitary Hormone Deficiency: PROP1 Related Congenital Disorder of Glycosylation: Type 1A: PMM2 Related Congenital Disorder of Glycosylation: Type 1B: MPI Related Congenital Disorder of Glycosylation: Type 1C: ALG6 Related Congenital Insensitivity to Pain with Anhidrosis Congenital Lipoid Adrenal Hyperplasia Congenital Myasthenic Syndrome: CHRNE Related Congenital Myasthenic Syndrome: DOK7 Related Congenital Myasthenic Syndrome: RAPSN Related Congenital Ichthyosis: ABCA12 Related Congenital Neutropenia: Recessive Copper Transport Disorders Corneal Dystrophyand Perceptive Deafness Corticosterone Methyloxidase Deficiency Crigler-Najjar Syndrome Cystic Fibrosis BBS12 BBS1 BBS2 CIITA BSND ACAT1 HEXA BTD BLM ASPA CPT2 SLC25A20 CPT1A RAB23 RMRP CYP27A1 GJB1 PRPS1 VPS13A CHM LYST LIPA CYBA CYBB SLC25A13 ASS1 GALT ERCC8 ERCC6 VPS13B PROP1 PMM2 MPI ALG6 NTRK1 STAR CHRNE DOK7 RAPSN ABCA12 HAX1 ATP7A SLC4A11 CYP11B2 UGT1A1 CFTR
3 Cystinosis Cystinuria: Non-Type I Cystinuria: Type I D-Bifunctional Protein Deficiency Diabetes:Recessive Permanent Neonatal Duchenn muscula dystrophy Becke muscula dystrophy Du Pan Syndrome Dyskeratosis Congenita:RTEL1 Related Dystrophic Epidermolysis Bullosa: Recessive Ehlers-Danlos Syndrome: Type VIIC Ellis-van Creveld Syndrome: EVC2 Related Ellis-van Creveld Syndrome: EVC Related Emery-Dreifuss Myopathy: X-Linked Enhanced S-Cone Ethylmalonic Aciduria Fabry s Disease Factor IX Deficiency Factor VIII Deficiency Familial Chloride Diarrhea Familial Dysautonomia Familial Hyperinsulinism:Type 1: ABCC8 Related Familial Hyperinsulinism:Type 2: KCNJ11 Related Familial Mediterranean Fever Fanconi Anemia: Type A Fanconi Anemia: Type C Fancon ianemia: Type G Fanconi Anemia: Type J Fragile X Syndrome Fumarase Deficiency Galactokinase Deficiency Gaucher Disease Gitelman Syndrome Globoid Cell Leukodystrophy Glucose-6-Phosphate Dehydrogenase Deficiency Glutaric Acidemia:Type I Glutaric Acidemia:Type IIA Glutaric Acidemia:Type IIB Glutaric Acidemia:Type IIC Glycine Encephalopathy: AMT Related Glycine Encephalopathy: GLDC Related Glycogen Storage Disease: Type IA Glycogen Storage Disease: Type IB Glycogen Storage Disease: Type II Glycogen Storage Disease: Type III Glycogen Storage Disease: Type IV Glycogen Storage Disease: Type V Glycogen Storage Disease: Type VII CTNS SLC7A9 SLC3A1 HSD17B4 ABCC8 DMD GDF5 RTEL1 COL7A1 ADAMTS2 EVC2 EVC EMD NR2E3 ETHE1 GLA F9 F8 SLC26A3 IKBKAP ABCC8 KCNJ11 MEFV FANCA FANCC FANCG BRIP1 FMR1 FH GALK1 GBA SLC12A3 GALC G6PD GCDH ETFA ETFB ETFDH AMT GLDC G6PC SLC37A4 GAA AGL GBE1 PYGM PFKM
4 GM1-Gangliosidoses GRACILE Syndrome Guanidinoacetate Methyltransferase Deficiency Hemochromatosis: Type2A: HFE2 Related Hemochromatosis: Type3: TFR2 Related Hemoglobinopathy: HbC Hemoglobinopathy: HbD Hemoglobinopathy: HbE Hemoglobinopathy: HbO Hereditary Fructose Intolerance Hereditary Spastic Paraplegia:TECPR2 Related Herlitz Junctiona lepidermolysis Bullosa:LAMA3 Related Herlitz Junctiona lepidermolysis Bullosa:LAMB3 Related Herlitz Junctional Epidermolysis Bullosa:LAMC2 Related Hermansky-Pudlak Syndrome: Type1 Hermansky-Pudlak Syndrome: Type3 Hermansky-Pudlak Syndrome: Type4 HMG-CoA Lyase Deficiency Holocarboxylase Synthetase Deficiency Homocystinuria Caused by CBS Deficiency Hunter Syndrome Hurler Syndrome Hypohidrotic Ectodermal Dysplasia: X-Linked Hypophosphatasia Inclusion Body Myopathy:T ype2 Infantile Cerebral and Cerebellar Atrophy Isolated Microphthalmia: VSX2 Related Isovaleric Acidemia Joubert Syndrome Juvenile Retinoschisis: X-Linked Lamellar Ichthyosis: Type1 Laryngoonychocutaneous Syndrome Leber Congenital Amaurosis: CEP290 Related Leber Congenital Amaurosis: GUCY2D Related Leber Congenital Amaurosis: LCA5 Related Leber Congenital Amaurosis: RDH12 Related Leigh Syndrome: French-Canadian Leukoencephalopathy With Vanishing White Matter: EIF2B5 Related Leydig Cell Hypoplasia Limb-Girdle Muscular Dystrophy: Type 2A Limb-Girdle Muscular Dystrophy: Type 2B Limb-Girdle Muscular Dystrophy: Type 2C Limb-Girdle Muscular Dystrophy: Type 2D Limb-Girdle Muscular Dystrophy: Type 2E Limb-Girdle Muscular Dystrophy: Type 2F Limb-Girdle Muscular Dystrophy: Type 2I Lipoprotein Lipase Deficiency GLB1 BCS1L GAMT HFE2 TFR2 ALDOB TECPR2 LAMA3 LAMB3 LAMC2 HPS1 HPS3 HPS4 HMGCL HLCS CBS IDS IDUA EDA ALPL GNE MED17 VSX2 IVD TMEM216 RS1 TGM1 LAMA3 CEP290 GUCY2D LCA5 RDH12 LRPPRC EIF2B5 LHCGR CAPN3 DYSF SGCG SGCA SGCB SGCD FKRP LPL
5 Long-Chain3-Hydroxyacyl-CoA Dehydrogenase Deficiency Lowe Oculocerebrorenal Syndrome Lysinuric Protein Intolerance Malonyl-CoA Decarboxylase Deficiency Maple Syrup Urine Disease:Type1A Maple Syrup Urine Disease:Type1B Maple Syrup Urine Disease:Type2 Maple Syrup Urine Disease:Type3 Maroteaux-Lamy Syndrome Meckel Syndrome: Type 1 Medium-ChainAcyl-CoA Dehydrogenase Deficiency Megalencephalic Leukoencephalopathy Metachromatic Leukodystrophy Methylmalonic Acidemia: MMAA Related Methylmalonic Acidemia: MMAB Related Methylmalonic Acidemia: MUT Related Methylmalonic Aciduria and Homocystinuria: Type cblc Mitochondrial ComplexI Deficiency: NDUFS6 Related Mitochondrial DNA Depletion Syndrome: MNGIE Type Mitochondrial Myopathyand Sideroblastic Anemia Mitochondrial Trifunctional Protein Deficiency: HADHB Related Morquio Syndrome: Type A Morquio Syndrome: Type B Mucolipidosis: Type II/III Mucolipidosis: Type IV Multiple Pterygium Syndrome Multiple Sulfatase Deficiency Muscle-Eye-Brain Disease Myotubular Myopathy: X-Linked Navajo Neurohepatopathy Nemaline Myopathy: NEBRelated Nephrotic Syndrome: Type 1 Nephrotic Syndrome: Type 2 Neuronal Ceroid-Lipofuscinosis: CLN5 Related Neuronal Ceroid-Lipofuscinosis: CLN6 Related Neuronal Ceroid-Lipofuscinosis: CLN8 Related Neuronal Ceroid-Lipofuscinosis: MFSD8 Related Neuronal Ceroid-Lipofuscinosis: PPT1 Related Neuronal Ceroid-Lipofuscinosis: TPP1 Related Niemann-PickDisease: Type A Niemann-PickDisease: Type B Niemann-PickDisease: Type C1 Niemann-PickDisease: Type C2 Nijmegen Breakage Syndrome Nonsyndromic Hearing Lossand Deafness: GJB2 Related Nonsyndromic Hearing Lossand Deafness: LOXHD1 Related Nonsyndromic Hearing Lossand Deafness: MYO15A Related HADHA OCRL SLC7A7 MLYCD BCKDHA BCKDHB DBT DLD ARSB MKS1 ACADM MLC1 ARSA MMAA MMAB MUT MMACHC NDUFS6 TYMP PUS1 HADHB GALNS GLB1 GNPTAB MCOLN1 CHRNG SUMF1 POMGNT1 MTM1 MPV17 NEB NPHS1 NPHS2 CLN5 CLN6 CLN8 MFSD8 PPT1 TPP1 SMPD1 SMPD1 NPC1 NPC2 NBN GJB2 LOXHD1 MYO15A
6 Oculocutaneous Albinism: Type1 Oculocutaneous Albinism: Type 3 Oculocutaneous Albinism: Type 4 Omenn Syndrome: DCLRE1C Related Omenn Syndrome: RAG2 Related Ornithine Transcarbamylase Deficiency Ornithine Translocase Deficiency Osteopetrosis: TCIRG1 Related Papillon-Lefevre Syndrome Pendred Syndrome Persistent Mullerian Duct Syndrome: Type I Persistent Mullerian Duct Syndrome: Type II Phenylalanine Hydroxylase Deficiency POLG Related Disorders: Autosomal Recessive Polyglandular Autoimmune Syndrome: Type 1 Pontocerebellar Hypoplasia: EXOSC3 Related Pontocerebellar Hypoplasia: RARS2 Related Pontocerebellar Hypoplasia: SEPSECS Related Pontocerebellar Hypoplasia: TSEN54 Related Pontocerebellar Hypoplasia: VPS53 Related Pontocerebellar Hypoplasia: VRK1 Related Primary Carnitine Deficiency Primary Ciliary Dyskinesia: DNAI1 Related Primary Ciliary Dyskinesia: DNAI2 Related Primary Congenital Glaucoma Primary Hyperoxaluria: Type1 Primary Hyperoxaluria: Type2 Primary Hyperoxaluria: Type3 Progressive Familial Intrahepatic Cholestasis: Type 2 Propionic Acidemia: PCCA Related Propionic Acidemia: PCCB Related Pseudocholinesterase Deficiency Pycnodysostosis PyruvateCarboxylase Deficiency Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Deficiency: X-Linked Renal Tubular Acidosisand Deafness Retinal Dystrophies: RLBP1 Related Retinal Dystrophies: RPE65 Related Retinitis Pigmentosa: CERKL Related Retinitis Pigmentosa: DHDDS Related Retinitis Pigmentosa: FAM161A Related Rhizomelic Chondrodysplasia Punctata: Type 1 Salla Disease Sandhoff Disease Sanfilippo Syndrome: Type A Sanfilippo Syndrome: Type B TYR TYRP1 SLC45A2 DCLRE1C RAG2 OTC SLC25A15 TCIRG1 CTSC SLC26A4 AMH AMHR2 PAH POLG AIRE EXOSC3 RARS2 SEPSECS TSEN54 VPS53 VRK1 SLC22A5 DNAI1 DNAI2 CYP1B1 AGXT GRHPR HOGA1 ABCB11 PCCA PCCB BCHE CTSK PC PDHB PDHA1 ATP6V1B1 RLBP1 RPE65 CERKL DHDDS FAM161A PEX7 SLC17A5 HEXB SGSH NAGLU
7 Sanfilippo Syndrome: Type C Sanfilippo Syndrome: Type D SCID: X-Linked Short-ChainAcyl-CoA Dehydrogenase Deficiency Sickle-Cell Anemia Sjogren-Larsson Syndrome Sly Syndrome Smith-Lemli-Opitz Syndrome Spinal Muscular Atrophy: SMN1 Related Stargardt Disease Stuve-Wiedemann Syndrome Sulfate Transporter-Related Osteochondrodysplasia Tay-Sachs Disease Trichohepatoenteric Syndrome:Type1 Tyrosine Hydroxylase Deficiency Tyrosinemia:Type I Tyrosinemia:Type II Usher Syndrome:Type 1B Usher Syndrome:Type 1C Usher Syndrome:Type 1D Usher Syndrome:Type 1F Usher Syndrome:Type 2A Usher Syndrome:Type 3 VeryLong-ChainAcyl-CoA Dehydrogenase Deficiency Walker-Warburg Syndrome Werner Syndrome Wilson Disease Wiskott-Aldrich Syndrome Wolcott-Rallison Syndrome Wolman Disease Xeroderma Pigmentosum: Group A Xeroderma Pigmentosum: Group C Zellweger Spectrum Disorders: PEX10 Related Zellweger Spectrum Disorders: PEX1 Related Zellweger Spectrum Disorders: PEX2 Related Zellweger Spectrum Disorders: PEX6 Related HGSNAT GNS IL2RG ACADS ALDH3A2 GUSB DHCR7 SMN1 ABCA4 LIFR SLC26A2 HEXA TTC37 TH FAH TAT MYO7A USH1C CDH23 PCDH15 USH2A CLRN1 ACADVL FKTN WRN ATP7B WAS EIF2AK3 LIPA XPA XPC PEX10 PEX1 PEX2 PEX6
High Impact Treatment Benefits X-Linked Moderate Impact. Disease Gene # Mutations Disease Group(s)
CarrierMap Expanded v3 Panel: 314 Diseases CarrierMap screen for 316 diseases including DMD. Disease Groups High Impact Treatment Benefits X-Linked Moderate Impact These diseases have a significant impact
All diseases on Foresight
All diseases on Foresight Disease 11-Beta-Hydroxylase- Deficient Congenital Adrenal Hyperplasia 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 3-Hydroxy-3-Methylglutaryl- CoA Lyase Deficiency
CLINICAL AND HUMAN TESTING
CLINICAL AND HUMAN TESTING CARRIER SCREENING FOR FAMILY PLANNING Let knowledge be your guide. Identify genetic conditions before or during a pregnancy to help predict the chances of having a child with
Foresight Carrier Screen
4915 25th Ave NE, Suite 204W Seattle, WA 98105 Phone: (206) 588-1484 Fax: (206) 466-4696 Sample Type: EDTA Blood Date of Collection: 09/20/2017 Date Received: 09/22/2017 Date Tested: 09/27/2017 Indication:
Evolve FamilyReady Carrier Screen
Evolve FamilyReady Carrier Screen Accurate & Comprehensive Expanded Carrier Screen of >200 genes for the most relevant genetic disorders for all ethnicities. Achromatopsia CNGB3 X-linked Adrenoleukodystrophy
BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.
BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING. The Inheritest SM Carrier Screen provides relevant genetic screening for many inherited diseases found throughout the pan-ethnic US population.
Foresight Carrier Screen
4915 25th Ave NE, Suite 204W Seattle, WA 98105 Phone: (206) 588-1484 Fax: (206) 466-4696 Sample Type: EDTA Blood Date of Collection: Date Received: 02/19/2018 Date Tested: 02/26/2018 Accession ID: CSL3P6DMJ324JJ4
NutraHacker. Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d. Instructions:
NutraHacker Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d Instructions: In this report, NutraHacker examines single nucleotide polymorphisms that reveal carrier status
Foresight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: OG-510 Saliva Date of Collection: 07/12/2017 Date Received: 07/17/2017 Date Tested: 07/17/2017 Indication:
CHRONIC MYELOGENOUS LEUKEMIA
CHRONIC MYELOGENOUS LEUKEMIA SHUFFLING THE GENETIC DECK IN CML 9 9 (q+) 22 Ph (22q-) bcr bcr-abl abl Fusion protein causes cancer GLEEVEC AND BCR-ABL FUSION PROTEIN GENETIC MEDICINE A. Genetic diseases
Foresight Carrier Screen
4915 25th Ave NE, Suite 204W Seattle, WA 98105 Phone: (206) 588-1484 Fax: (206) 466-4696 Sample Type: EDTA Blood Date of Collection: 08/17/2017 Date Received: 08/18/2017 Date Tested: 08/24/2017 Indication:
Foresight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: EDTA Blood Date of Collection: 07/12/2017 Date Received: 07/17/2017 Date Tested: 07/17/2017 Indication:
Foresight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: OG-510 Saliva Date of Collection: 06/23/2017 Date Received: 06/28/2017 Date Tested: 06/28/2017 Indication:
Residual risks by ethnicity
Residual risks by ethnicity This table displays residual risks after a negative result for each of the genes and corresponding disorders. If a patient is reported to be a carrier of a disease, their residual
CarrierMap. Genetic Counseling. Technology TABLE OF. Sample Report CONTENTS. New Offerings. Recombine Facts. Disease List
Recombine 2 CarrierMap 4 Genetic Counseling TABLE OF CONTENTS 8 12 14 Technology Sample Report New Offerings 18 Recombine Facts 19 Disease List CARRIERMA ROVIDES COMLETE We help families have healthy children
SAMPLE. Carrier Screening Results Report v2.2 Page 1/8
MM480: Pan-Ethnic Carrier Screen - Targeted Mutation Panel Report Prepared For: Patient: Name: Date of Birth: IDs (Internal / External): Reported Gender: Reported Ethnicity: Sample: Sample Collection Date:
Foresight Carrier Screen
Freiburg Medical Laboratory, ME LLC Box 3068 Dubai, 00000 Phone: +971 4 396 2227 FE Sample Type: EDTA Blood Date of Collection: 04/23/2018 Date Received: 04/27/2018 Date Tested: 05/05/2018 Indication:
4978 Santa Anita Ave Temple City, CA (p) (f)
Patient Information Doe, Jane Sex: F MR#: FD Patient#: FT-PT00000 Accession: FT-00000 Test#: FT-00000 Specimen Type: Blood (EDTA) Collection Date: Aug 01, 2017 Partner Information Not Tested Accession:
Family Prep Screen POSITIVE: HIGH REPRODUCTIVE RISK. Cystic Fibrosis
123 Main Street Houston, TX 10231 Phone: (800) 555-1212 Fax: (800) 555-1212 FE Sample Type: OG-510 Saliva Date of Collection: 07/08/2014 Date Received: 07/13/2014 Date Tested: 07/13/2014 Indication: No
JOHN DOE JANE DOE. Reproductive Risk Summary. Counsyl Test Results Summary
Results Recipient University Medical Center 827 Attn: Dr. Paul Smith 123 Main Street Houston, TX 10231 Phone: (800) 555-1212 Fax: (800) 555-1212 NPI: 7834324983 Report Date: 09/09/2013 Female Ethnicity:
CARRIER SCREENING PANEL
1 / 6 1. WHAT IS THE CARRIER? The carrier screening panel is a genetic test that simultaneously analyses mutations in 298 genes which cause recessive inherited pathologies. Diseases with a recessive inheritance
Utility of Microarrays in Molecular Genetics
Utility of Microarrays in Molecular Genetics Madhuri Hegde, Ph.D., FACMG Associate Professor Senior Director Department of Human Genetics Emory Genetics Laboratory Emory University School of Medicine Atlanta,
CARRIER SCREEN - LIST OF DISORDERS
1 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 2 17-Beta-Hydroxysteroid deyhdrogenase X deficiency 3 2-Methylbutytyrglycinuria 4 21-hydroxylase deficiency 5 3-Methylcrotonyl-CoA carboxylase
Results Recipient Ordering Healthcare Professional Male Details Female Details
Results Recipient Ordering Healthcare Professional Male Details Details Report Date /2010 Attn: Jessica Jacobson, MD Counsyl, Inc. 2200 Bridge Parkway, Suite 103 Redwood City, CA 94065 Phone: 1-888-COUNSYL
23andMe Reports GENETIC HEALTH RISK REPORTS. Increased risk for breast and ovarian cancer. function
1 23andMe Reports GENETIC HEALTH RISK REPORTS BRCA1/BRCA2 Late-Onset Alzheimer's Disease Parkinson's Disease Age-Related Macular Degeneration Alpha-1 Antitrypsin Deficiency Celiac Disease G6PD Deficiency
Comprehensive Jewish Carrier Screen
Comprehensive Jewish Carrier Screen What is carrier screening? There are several genetic disease mutations that occur at increased frequencies in the Ashkenazi Jewish (Central & Eastern European), Sephardi
Expanded carrier screening for monogenic disorders: where are we now?
DOI: 10.1002/pd.5109 SPECIAL TOPIC ISSUE ON ADVANCES IN THE DIAGNOSIS OF SINGLE GENE DISORDERS Expanded carrier screening for monogenic disorders: where are we now? Davit Chokoshvili*, Danya Vears and
GENE BY GENE CARRIER SCREENING
Patient Copy GENE BY GENE CARRIER SCREENING GENE BY GENE CARRIER SCREEN Various genetic mutations occur with increased frequencies in various ethnic groups in the United States and around the world. For
Newborn Genetic Analysis
Fulgent tics Newborn tic Analysis Newborn tic Analysis (NGA) is a highly sophisticated and sensitive genetic test that identifies DNA changes that can cause infants to develop severe or life-altering conditions.
LABHORIZONS. New Procedures A NEWSLETTER FOR CLIENTS
LABHORIZONS A NEWSLETTER FOR CLIENTS Volume XVII, No. 7 July 2017 New Procedures 5 HIAA, Plasma.................................. 504510 CPT 83497 Synonyms 5-hydroxyindoleacetic acid Use Plasma 5-hydroxy-indoleacetic
The Israeli population carrier screening program. Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem
The Israeli population carrier screening program Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem The Israeli population 2015 8,134,500 inhabitants Jews (75.1%) Ashkenazi, non
Sema4 Natalis. Clinical significance of panel. Testing methods, sensitivity, and limitations
Sema4 Natalis Clinical significance of panel Sema4 has designed and validated Natalis, a supplemental newborn screening panel offered for newborns, infants, and young children. This test may be offered
Knowledge is power. Plan ahead with GeneAware.
MATERNAL FETAL Many patients may have questions regarding specific genetic disorders that may arise when planning or expecting a baby. That s why Baylor Genetics developed GeneAware, a reproductive carrier
The Counsyl Foresight Carrier Screen
The Counsyl Foresight Carrier Screen 180 Kimball Way South San Francisco, CA 94080 www.counsyl.com contact@counsyl.com (888) COUNSYL The Counsyl Foresight Carrier Screen - Disease Reference Book 11-beta-hydroxylase-deficient
NextStep Carrier Screening
NextStep Carrier Screening What Is Carrier Screening? Certain genetic disorders occur more frequently in the general population, regardless of ethnic background. Carrier screening to determine if you and
INVITAE METABOLIC DISORDERS AND NEWBORN SCREENING GENE PANEL TESTS
INVITAE METABOLIC DISORDERS AND NEWBORN SCREENING GENE PANEL TESTS A broad menu covering the vast majority of inherited metabolic disorders that are routinely tested as part of state newborn screening
רשימת המחלות הנסקרות בבדיקה
רשימת המחלות הנסקרות בבדיקה By סקר גנטי טרום הריון - FamilyFirst בדיקת סקר גנטי טרום הריוני מורחב, הסוקרת כ- 850 מוטציות העלולות לחולל 255 מחלות תורשתיות. הבדיקה כוללת את כל המחלות המומלצות ע"י משרד הבריאות
BabyNEXT TM EXTENDED. Geni investigati e patologie associate. Gene Disease OMIM gene Familial hyperinsulinism ABCC8-related
Geni investigati e patologie associate BabyNEXT TM EXTENDED Gene Disease OMIM gene ABCC8 Familial hyperinsulinism ABCC8-related OMIM Disease Condition 600509 256450 Metabolic disorder - ABCD1 Adrenoleukodystrophy
Further expansion of the neonatal screening panel in the Netherlands
Further expansion of the neonatal screening panel in the Netherlands J.Gerard Loeber APHL-NBSGT, St.Louis (MO), USA 290216 Population Area Newborns 6.01 million 0.35:1 16.8 million 180,693 sq km 4.3:1
disease carrier status PANEL DETAILS VERSION Risk Details JANE MILLER JOHN MILLER NEGATIVE CARRIER * NEGATIVE MILD CONDITION NEGATIVE
123 Main Street City, CA 10231 Phone: (800) 555-1212 Fax: (800) 555-1212 FE Sample Type: EDTA Blood Date of Collection: 02/06/2014 Date Received: 02/16/2014 Date Tested: 02/16/2014 Indication: Screening
PGD: A Celebration of 20 years:
PGD: A Celebration of 20 years: What is Reality and What is Not? Roma June 30, 2010 Mark Hughes, M.D., Ph.D. Professor of Genetics, Internal Medicine, Pathology Director, Genesis Genetics Institute Director,
Summary of Results CARRIER STATUS DNA INSIGHT. Result: Carrier, Heterozygote. Protected Health Information. Propionic Acidemia
Test Results Reviewed & Approved by: Laboratory Director, Nilesh Dharajiya,.D. SAPLE REPORT CARRIER STATUS DNA INSIGHT PERSONAL DETAILS DOB Jan 1, 19XX ETHNICITY Asian ORDERING HEALTHCARE PROFESSIONAL
Sperm Donor Profile. Asian American Indian African American/Black. Caucasian/White East Indian Latino/Hispanic
Sperm Donor Profile This packet is for informational purposes. All the questions have been answered by the donor and are unaltered with exception to the staff impressions, genetic screening results, and
GeneScreen : Elenco dei geni analizzati e malattie genetiche investigate
GeneScreen : Elenco dei geni analizzati e malattie genetiche investigate DISEASE NAME PhenoMIM GENE 1 17-alpha-hydroxylase/17,20-lyase deficiency 202110 CYP17A1 2 17-beta-hydroxysteroid dehydrogenase X
When users open the application interface, the starting page presents a disclaimer. Upon agreeing to the
Walkthrough of IEMbase When users open the application interface, the starting page presents a disclaimer. Upon agreeing to the disclaimer, users are directed to the main page, which presents a search
23andMe Personal Genome Service (PGS) Carrier Status Tests Package Insert
Table of contents Intended Use Important warnings and limitations Test performance User studies Specific test information 23andMe Personal Genome Service (PGS) Carrier Status Tests Package Insert For in-vitro
A Lawyer s Perspective on Genetic Screening Performed by Cryobanks
A Lawyer s Perspective on Genetic Screening Performed by Cryobanks As a lawyer practicing in the area of sperm bank litigation, I have, unfortunately, represented too many couples that conceived a child
23andMe Personal Genome Service (PGS) Carrier Status Tests Package Insert
Table of contents Intended Use Important warnings and limitations Test performance User studies Specific test information 23andMe Personal Genome Service (PGS) Carrier Status Tests Package Insert For in-vitro
Standard Therapies - Cord Blood
A healthy future is in your hands 01 02 03 04 Standard Therapies - Cord Blood Clinical Trials with Blood - Forming Stem Cells Gene Therapy for Inherited Disorders Using Blood - Forming Stem Cells Clinical
PREDICAGEN LLC REPORT
The report below is a scientific interpretation of the DNA variants (referred as RS numbers) to the customer by a third party (for example 23andMe). The report should not be considered exclusive, because
COMPREHENSIVE DIAGNOSIS FOR MITOCHONDRIAL DISORDERS
COMPREHENSIVE DIAGNOSIS FOR MITOCHONDRIAL DISORDERS MITOCHONDRIAL DISORDERS NGS PANELS MITOCHONDRIAL DISORDERS NGS PANELS Name Test code Gene Name Mitome200-Nuclear 2086 (164 nuclear genes) AARS2, ACACA,
A. disorders of amino acid metabolism classical phenylketonuria and hyperphenylalaninemia
OMIM # FULL NAME A. disorders of amino acid metabolism 1 261600 classical phenylketonuria and hyperphenylalaninemia 2 261640 phenylketonuria due to PTPS deficiency 3 261630 phenylketonuria due to DHPR
Expanded Carrier Screen (ECS)
Expanded Carrier Screen (ECS) What is carrier screening? Certain genetic disorders occur more frequently in the general population, regardless of ethnic background. Carrier screening to determine if you
General Test Requisition Form - Biochemical and Molecular
General Test Requisition Form - Biochemical and Molecular Please complete every field and tick box clearly. PATIENT INFORMATION PATIENT SAMPLE INFORMATION Patient s First Name Patient s Last Name Middle
COMMON INHERITED METABOLIC CONDITIONS IN SOUTH AFRICA DIAGNOSING RARE DISEASE IN GENETICALLY UNIQUE AND UNDERSTUDIED POPULATION GROUPS
COMMON INHERITED METABOLIC CONDITIONS IN SOUTH AFRICA DIAGNOSING RARE DISEASE IN GENETICALLY UNIQUE AND UNDERSTUDIED POPULATION GROUPS S MELDAU, G VAN DER WATT INHERITED METABOLIC DISEASES GROUP UCT /
Metabolic Disorders Screened Overseas but not Screened in Australia Condition Features Inherited Diagnosis Treatment Newborn Screen
Metabolic Disorders ed Overseas but not ed in Australia Biotinidase Deficiency Severe form causes seizures & delay Biotin can prevent complications NZ, USA Tyrosinaemia Type I Coma & death before age 10
Diagnose a broad range of metabolic disorders with a single test, Global MAPS
PEDIATRIC Assessing or diagnosing a metabolic disorder commonly requires several tests. Global Metabolomic Assisted Pathway Screen, commonly known as Global MAPS, is a unifying test for analyzing hundreds
General Test Requisition Form - Biochemical and Molecular
General Test Requisition Form - Biochemical and Molecular Please complete every field and tick box clearly. PATIENT INFORMATION PATIENT SAMPLE INFORMATION Patient s First Name Patient s Last Name MM/ DD
Genetic Carrier Screening
Genetic Carrier Screening Test Indications Carrier screening is a significant testing tool for inherited genetic conditions of prenatal care. The purpose of carrier screening is to identify couples at-risk
Table S5. Disease pairs that have a significant comorbidity and are connected in either KEGG or BiGG database
Table S5. Disease pairs that have a significant comorbidity and are connected in either KEGG or BiGG database Coincide nce Expected coincidence Maximum possible comorbidity Disease1 Disease2 Link(KEGG)
Joshua Hellmann Foundation - Newborn Metabolic Screening Program
Joshua Hellmann Foundation - Newborn Metabolic Screening Program Centre of Inborn Errors of Metabolism The Chinese University of Hong Kong Last update: 11 June 2013 Target inborn errors of metabolism (IEM)
devact TM Clinical Management Panel for Neurodevelopmental Disorders
Amino acid disorder AMT Glycine encephalopathy (non-ketotic hyperglycinemia) Amino acid disorder GCSH Glycine encephalopathy (non-ketotic hyperglycinemia) Amino acid disorder GLDC Glycine encephalopathy
Test Ordered- EPIC: Next generation sequencing(next Gen) Sunquest: NGS
UNIVERSITY OF MINNESOTA PHYSICIANS OUTREACH LABS MOLECULAR DIAGNOSTICS (612) 273-8445 DATE: TIME COLLECTED: AM PM PCU/CLINIC: DIAGNOSIS (Dx) / DIAGNOSIS CODES (ICD-9) - OUTPATIENTS ONLY (1) (2) SPECIMEN
UKGTN Testing Criteria
UKGTN Testing Criteria Approved name and symbol of disease/condition(s): Retinal Degeneration panel test Approved name and symbol of gene(s): a panel of 105 genes, variants of which have been shown to
Tabella 1: PrenatalScreen - Elenco dei geni analizzati e della malattie genetiche investigate
Tabella 1: PrenatalScreen - Elenco dei geni analizzati e della malattie genetiche investigate MALATTIA PhenoMIM GENE 1 17-alpha-hydroxylase/17,20-lyase deficiency 202110 CYP17A1 2 17-beta-hydroxysteroid
Our partners worldwide. CENTOGENE Report: Diagnosed cases of rare diseases at CENTOGENE. January 2012 to June 2016.
CENTOGENE Report: cases of rare diseases at CENTOGENE January 202 to June 206 Elucidating the basis for the link between the clinical phenotype and genotype correlation, and the factors contributing to
Newborn Screening: Focus on Treatment
Newborn Screening: Focus on Treatment Alan R. Fleischman, M.D. Senior Vice President and Medical Director March of Dimes National Conference of State Legislatures July 21, 2008 Newborn Screening: A Public
N.I.R.M.A.N. Dr. ANIL B. JALAN (MD DCH MCPS) Test list Oct 2017
Tests and Profiles Tests Method Sample Needed TAT Genetic Consultation / - All samples to be sent at 2 8 C. Counseling 1 Urine MRST - 15 ml Urine 24 hrs 2 Sr. Ammonia, Lactate, Sugar Fuji Dry Chem 2 ml
LMM / emerge III Network Reference Sequences October 2016 LMM / emerge III Network Consensus Actionable Gene List *ACMG56 gene
LMM / emerge III Network Consensus Actionable Gene List *ACMG56 gene ACTA2* Exon 02-09 NM_001613.2 DSG2* Exon 01-15 NM_001943.3 ACTC1* Exon 01-06 NM_005159.4 DSP* Exon 01-24 NM_004415.2 APC* Exon 01-15
For Your Baby s Health Department of Health
Newborn Screening For Your Baby s Health Department of Health Why is my baby tested? To help make sure your baby will be as healthy as possible. The blood test provides important information about your
Variant annotation Extracted variants listed in dbsnp, OMIM, ClinVar, and HGMD 2434 variants
Whole Genome Sequencing and Variant Calling Whole genome sequencing and variant calling of 128 healthy Ashkenazi Jews carried out by Complete Genomics. Merged 128 genomes using CGA tools, obtained 273250
LEADERS IN GENETIC FERTILITY SCREENING TM. #1 in Genetic Fertility Screening SCREEN TODAY. PROTECT TOMORROW.
#1 in Genetic Fertility Screening SCREEN TODAY. ROTECT TOMORROW. THE LEADER IN FERTILITY & RERODUCTIVE GENETIC SCREENING EvolveGene was founded by world leaders in genetics and fertility discovery, with
Inherited Leukoencephalopathies
3 Inherited Leukoencephalopathies Deborah L. Renaud, M.D. 1 1 Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, Minnesota Semin Neurol 2012;32:3 8. Leukoencephalopathies are conditions that
Positive Newborn Screens: What do you do next?
Positive Newborn Screens: What do you do next? James B. Gibson, MD, Ph.D. Biochemical Geneticist at Specially for Children Clinical Associate Professor of Pediatrics UTHSCSA Carla R. Scott, MD Pediatric
PATIENT EDUCATION. carrier screening INFORMATION
PATIENT EDUCATION carrier screening INFORMATION carrier screening AT A GLANCE Why is carrier screening recommended? Carrier screening is one of many tests that can help provide information to you and your
Overview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy
Overview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy Alan R. Fleischman, M.D. Senior Vice President and Medical Director Chair, Federal Advisory Committee,
MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES
NEWBORN SCREENING Protecting your newborn MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES [ 1 ] NEWBORN SCREENING [ 2 ] FREQUENTLY ASKED QUESTIONS [ 4 ] DISORDERS INCLUDED IN NEWBORN SCREENING [ 12 ]
Reproductive Physiology Primordial Germ Cells Yolk Sac Sex Chromosomes Females Males Sex-Linked Traits
Reproductive Physiology Primordial Germ Cells - from Yolk Sac these migrate to fetus when it is 5 weeks old - these cells give rise to the gonads (ovaries for female, testes for male) first they form the
Patient Last Name Patient First Name MI Date of Birth (MM / DD / YYYY) Address City State Zip Phone. the hospital/facility:
PATIENT INFORMATION (COMPLETE ONE FORM FOR EACH PERSON TESTED) Patient Last Name Patient First Name MI Date of Birth (MM / DD / YYYY) Address City State Zip Phone Patient discharged from Biological Sex:
[R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE PLANTATIONS DEPARTMENT OF HEALTH. February October October 1992 (E) September 1995
![[R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE PLANTATIONS DEPARTMENT OF HEALTH. February October October 1992 (E) September 1995](/thumbs/95/122505027.jpg "[R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE PLANTATIONS DEPARTMENT OF HEALTH. February October October 1992 (E) September 1995")
RULES AND REGULATIONS PERTAINING TO THE NEWBORN METABOLIC, ENDOCRINE, AND HEMOGLOBINOPATHY SCREENING PROGRAM AND THE NEWBORN HEARING LOSS SCREENING PROGRAM [R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE
Title: Assessing Recommendations Related To Timeliness of Newborn Screening
Title: Assessing Recommendations Related To Timeliness of Newborn Screening Purpose: In January 2014, the Secretary s Discretionary Advisory Committee on Heritable Diseases on Newborns and Children (Committee)
Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015
Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015 Metabolic birth defects can cause physical problems, mental retardation and, in some cases, death. It is
Centers for Medicare and Medicaid Services
Centers for Medicare and Medicaid Services Clinical Laboratory Fee Schedule Annual Laboratory Public Meeting June 25, 2018 Anthony Sireci, MD, Msc Association for Molecular Pathology Outline Germline Procedures
HEMATOPOIETIC CELL TRANSPLANTATION FOR GENETIC DISEASES AND ACQUIRED ANEMIAS
ACQUIRED ANEMIAS Non-Discrimination Statement and Multi-Language Interpreter Services information are located at the end of this document. Coverage for services, procedures, medical devices and drugs are
Newborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis)
Newborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis) 1) Argininosuccinic acidemia (ASA) a) Incidence: ~1 in 70,000 b) Deficiency in an enzyme of
FRAMBU. Resource Centre for Rare Disorders
FRAMBU Resource Centre for Rare Disorders Frambu Resource Centre for Rare Disorders is one of nine centres working with rare disorders in Norway. All nine centres are part of the Norwegian National Advisory
HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
Virtus Diagnostics Preconception Screen What diseases does it screen your carrier status for? Disease 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY 3-@METHYLGLUTACONIC ACIDURIA, TYPE III 3-BETA-HYDROXYSTEROID
NEWBORN SCREENING. health.mo.gov/newbornscreening MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES
NEWBORN SCREENING health.mo.gov/newbornscreening MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES Table of Contents NEWBORN SCREENING...1 FREQUENTLY ASKED QUESTIONS...2 DISORDERS INCLUDED IN NEWBORN SCREENING...4
Most common is the congenital adrenogenital syndrome (AGS) or congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
Newborn Screening Examination parameters: TSH-neonatal (hypothyreosis), 17-OH progesterone (AGS), galactose (galactosemia), galactose-uridyl transferase (galacto semia), biotinidase (biotinidase ), phenylalanine
(f) "Birthing center" means any facility that is licensed by the Georgia Department of Community Health as a birthing center;
Ga. Comp. R. & Regs. r. 511-5-5-.02 Definitions Rule 511-5-5-.02. Definitions (a) "Abnormal test result" is a test result from blood testing or physiologic monitoring that is outside the screening limits
Archived Reports Summary
Archived Reports Summary 1 Archived Reports Summary This summary provides information that may be helpful when viewing your archived reports. The information in this document and in your reports is intended
NEWBORN SCREENING. in Massachusetts: Answers for You and Your Baby. University of Massachusetts Medical School
University of Massachusetts Medical School NEWBORN SCREENING in Massachusetts: Answers for You and Your Baby New England Newborn Screening Program Biotech 4, 2nd Floor UMass Medical School 377 Plantation
BE PROACTIVE. SCREEN TODAY. PROTECT TOMORROW.
BE PROACTIVE. SCREEN TODAY. PROTECT TOMORROW. THE LEADER IN FERTILITY & REPRODUCTIVE GENETIC SCREENING EvolveGene was founded by world leaders in preventive and personalized healthcare, with over 25 years
BULGARIAN NATIONAL PLAN. Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD)
BULGARIAN NATIONAL PLAN FOR RARE DISEASES 2009 2013 Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD) Strategy for rare diseases in Bulgaria Project of National
NEWBORN SCREENING. in Massachusetts: Information for You and Your Baby. University of Massachusetts Medical School
University of Massachusetts Medical School NEWBORN SCREENING in Massachusetts: Information for You and Your Baby New England Newborn Screening Program Biotech 4, 2nd Floor UMass Medical School 377 Plantation
Coagulation factor VII deficiency. Hemophilia A (German Shepherd Dog, type 1) Pyruvate kinase deficiency (Labrador Retriever type)
Blood and Clotting Coagulation factor VII deficiency Elliptocytosis Hemophilia A (German Shepherd Dog, type 2) Pyruvate kinase deficiency (Labrador Retriever type) Thrombopathia (American Eskimo Dog type)
7 Medical Genetics. Hemoglobinopathies. Hemoglobinopathies. Protein and Gene Structure. and Biochemical Genetics
SESSION 7 Medical Genetics Hemoglobinopathies and Biochemical Genetics J a v a d F a s a J a m s h i d i U n i v e r s i t y o f M e d i c a l S c i e n c e s, N o v e m b e r 2 0 1 7 Hemoglobinopathies
Beyond the case for NBS in South Africa. Chris Vorster 28/05/2016
Beyond the case for NBS in South Africa Chris Vorster 28/05/2016 The case for NBS in SA Economic justification Cost Utility analysis = Cost/QALY GDP/Capita Immediate implementation (WHO) Political justification
Donor xytex.com
Donor 5472 Information displayed in this profile is provided by the donor. Blank fields are intentional and indicate that the information is not available. xytex.com info@xytex.com 706-733-0130 General
panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders
NGS tests panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders UKGTN website lists 13 laboratories offering a total of 56 panel test UKGTN listed panel