VSX2 LIFR NDRG1 IL2RG Deletion/duplication analysis is not offered for exons 82-105. MTRR MMAB RS1 F11 HBA1, HBA2 CEP290 (Carrier): CEP290: Analysis includes the intronic variant NM_025114.3:c.2991+1655A>G. AGA SGCG KCNJ11 F11 GFM1 HYAL1 ALDH3A2 Call Clinical Consult at 800-436-3037 if you would like to review patient cases or differentiate between testing options. • Invitae Comprehensive Carrier Screen • Add-on genes with variable presentation RReason feason for Tor Testingesting Patient/partner is pregnant (Est. analyzed due to inherent sequence properties or isolated reduction in data quality. EYS SGCA ATM Before or during pregnancy, couples in the United States and Canada can obtain information about if their child is at risk of inheriting a genetic disease. BBS2 TECPR2 Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. LAMA3 SLC12A6 The Invitae Carrier Screen replaces the existing GeneVu carrier screen previously ordered through Good Start Genetics, which was acquired by Invitae in 2017. RMRP CYP27A1 CPT1A In very rare cases, (circulating hematolymphoid neoplasm, bone marrow PPT1 FKTN (Carrier): FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3' UTR at position NM_001079802‚Äã.1:c.*4392_*4393. GLE1 ALG6 PCCB BBS10 Sema4 Expanded Carrier Screen is a comprehensive carrier screen for more than 280 inherited diseases to give you the information you need to plan for a healthier future for your family. SLC37A4 GNPTG MMAB BCKDHA VRK1 G6PD LDLR LHX3 GJB1 DNAI1 GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. ESCO2 HBB (Carrier): HBB: Analysis includes c.-300 to c.*300 (including the intervening sequence). SLC26A2 (Carrier): SLC26A2: Analysis includes the intronic variant NM_000112.3:c.-26+2T>C. Please consult the test definition on our website for Do you … All disorders on the Core carrier screen plus: All disorders on the Broad carrier screen plus: Carrier screening before pregnancy can provide patients with more reproductive options including: Carrier screening during pregnancy can help patients better prepare for the birth of their child including: all disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG), disorders recommended by national Jewish societies, prevalent disorders with an elevated carrier frequency across ethnicities, well-defined disorders that may have a severe impact on quality of life, a selection of disorders found on the newborn screen, In network for more than 300 million patients, All carrier patients have access to our benefits investigation program to choose between insurance and $250 patient-pay, Help you choose the test most suitable for your patient, Provide post-test counseling for your patients at no additional charge, If you have any questions about the results or their clinical implications, our. SLC12A3 - In Combination with Carrier Screening, NIPS Provides Affordable, Streamlined Access to Genetic Testing for Parents-to-Be - Invitae Corporation (NYSE: NVTA), a leading genetics company, today announced the addition of non-invasive prenatal screening (NIPS) to the company's comprehensive women's health genetic testing … information you entered about your health insurance coverage. CTSK Sensitivity to detect these variants if they result from complex gene conversion events may be reduced. It is not a confirmation NPHS2 BBS12 RDH12 GALC (Carrier): Deletion/duplication analysis is not offered for exon 6. PEX12 LRPPRC ALDOB CHRNE (Carrier): CHRNE: Analysis includes the intronic variants NM_000080.3:c.-96C>T, NM_000080.3:c.-95G>A, and NM_000080.3:c.-94G>A. MTRR SGCG OAT Learn More >. MCCC1 ASS1 CTNS COL4A5 (Carrier): Deletion/duplication analysis is not offered for exons 11-12. PEX10 The Norton & Elaine Sarnoff Center for Jewish Genetics, Aicardi-Goutieres syndrome (SAMHD1-related), Alpha-thalassemia X-linked intellectual disability syndrome, Alport Syndrome, X-linked (COL4A5-related), Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia, Autosomal recessive spastic ataxia of Charlevoix-Saguenay (, Carbamoylphosphate synthetase I deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine palmitoyltransferase II deficiency, Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders, Charcot-Marie-Tooth disease (NDRG1-related), Charcot-Marie-Tooth disease, X-linked (GJB1-related), Combined malonic and methylmalonic aciduria (ACSF3-related), Combined oxidative phosphorylation deficiency (GFM1-related), Combined oxidative phosphorylation deficiency (, Combined pituitary hormone deficiency (LHX3-related), Combined pituitary hormone deficiency (PROP1-related), Congenital adrenal hyperplasia due to 11-beta-hydroxylase-deficiency, Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency, Congenital amegakaryocytic thrombocytopenia, Congenital disorder of glycosylation (ALG6-related), Congenital disorder of glycosylation (PMM2-related), Congenital insensitivity to pain with anhidrosis, Corneal dystrophy and perceptive deafness, Dihydrolipoamide dehydrogenase deficiency (, Dystrophic epidermolysis bullosa (COL7A1-related), Ehlers-Danlos syndrome, dermatosparaxis type, Ellis-van Creveld syndrome (EVC2-related), Enhanced S-cone syndrome/ retinitis pigmentosa 37, Familial hypercholesterolemia (LDLRAP1-related), GJB2-related DFNB1 nonsyndromic hearing loss and deafness, Glycogen storage disease type II (Pompe disease), Glycogen storage disease type IV/ adult polyglucosan body disease, Guanidinoacetate methyltransferase deficiency, Hyperornithinemia-hyperammonemia-homocitrullinuria (, Joubert syndrome 2/ TMEM216-related disorders, Junctional epidermolysis bullosa (LAMB3-related), Junctional epidermolysis bullosa (LAMC2-related), Leber congenital amaurosis 10/ CEP290-related disorders, Leber congenital amaurosis 8/ CRB1-related disorders, Leukoencephalopathy with vanishing white matter (EIF2B5-related), Limb-girdle muscular dystrophy type 2A (calpainopathy), Long chain 3-hydroxyacyl-CoA dehydrogenase (, Major histocompatibility complex class II deficiency (, Megalencephalic leukoencephalopathy with subcortical cysts type 1, Methylmalonic acidemia with homocystinuria, cobalamin C type, Methylmalonic acidemia with homocystinuria, cobalamin D type, Microphthalmia /clinical anophthalmia (VSX2-related), Mitochondrial complex I deficiency/ Leigh syndrome (NDUFAF5-related), Mitochondrial complex I deficiency/ Leigh syndrome (NDUFS6- related), Mitochondrial myopathy and sideroblastic anemia 1, Mitochondrial neurogastrointestinal encephalopathy (, Mucopolysaccharidosis type II (Hunter syndrome), Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), Nephrogenic diabetes insipidus (AQP2-related), Nephrotic syndrome/ congenital Finnish nephrosis (NPHS1-related), Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related), Neuronal ceroid lipofuscinosis (TPP1-related), Neuronal ceroid-lipofuscinosis (CLN3-related), Neuronal ceroid-lipofuscinosis (CLN5-related), Neuronal ceroid-lipofuscinosis (CLN6-related), Neuronal ceroid-lipofuscinosis (MFSD8-related), Neuronal ceroid-lipofuscinosis (PPT1-related), Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related), Niemann-Pick disease type C (NPC1-related), Niemann-Pick disease type C (NPC2-related), Phenylalanine hydroxylase deficiency (including Phenylketonuria (, Phosphoglycerate dehydrogenase deficiency/ Neu-Laxova syndrome type 1, Polycystic kidney disease (PKHD1-related), Pontocerebellar hypoplasia (RARS2-related), Postnatal progressive microcephaly with seizures and brain atrophy/ Infantile cerebral and cerebellar atrophy (MED17-related), Primary Ciliary Dyskinesia (DNAH5-related), Primary Ciliary Dyskinesia (DNAI1-related), Primary Ciliary Dyskinesia (DNAI2-related), Progressive familial intrahepatic cholestasis type 2, Pyruvate dehydrogenase complex deficiency (PDHA1-related), Pyruvate dehydrogenase complex deficiency (, Renal tubular acidosis with deafness (ATP6V1B1-related), Rhizomelic chondrodysplasia punctata type 1/ Refsum disease (PEX7-related), Rhizomelic chondrodysplasia punctata type 3, Severe combined immune deficiency (DCLRE1C-related), Severe combined immunodeficiency (RAG2-related), Severe congenital neutropenia due to VPS45-deficiency, Tay-Sachs disease/ hexosaminidase A deficiency, Usher syndrome type IB/ MYO7A-related disorders, Usher syndrome type IC/ USH1C-related disorders, Usher syndrome type IF/ PCDH15-related disorders, X-linked severe combined immunodeficiency (X-, Xeroderma pigmentosum complementation group A, Xeroderma pigmentosum complementation group C, Zellweger spectrum disorder (PEX1-related), Zellweger spectrum disorder (PEX10-related), Zellweger spectrum disorder (PEX12-related), Zellweger spectrum disorder (PEX2-related), Zellweger spectrum disorder (PEX6-related), all disorders recommended by the American College of Obstetricians and Gynecologists (, an extended list of disorders recommended by national Jewish societies, disorders that may have a severe presentation, a selection of disorders found on the newborn screen, several X-linked disorders, including fragile X syndrome, G6PD: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, GP1BA: Bernard-Soulier syndrome (GP1BA-related), GP9: Bernard-Soulier syndrome (GP9-related), MCCC1: 3-methylcrotonyl-CoA carboxylase (3-, MCCC2: 3-methylcrotonyl-CoA carboxylase (3-. HPS1 Obstet Gynecol. PCDH15 EMD ASS1 CLN3 DCLRE1C PPT1 (Carrier): PPT1: Analysis includes the intronic variant NM_000310.3:c.125-15T>G. F9 References: GNPTAB NPC2 HYAL1 HSD3B2 SLC37A4 GALT (Carrier): GALT: Analysis includes the 5 kb deletion NM_000155.3:c.[-1039_753del; 820+50_*789delinsGAATAGACCCCA] as well as the Duarte variant NM_000155.3: c.-119_-116delGTCA. PYGM Request free kits for collecting patient specimens, 2. VPS45 NPHS1 VPS45 SLC35A3 Sequence analysis and deletion/duplication testing of the 301 genes listed in the results section below. NDUFAF5 ADA XPC If you only want a subset, then click individual genes to remove them. GLB1 BBS1 SLC26A2 inversions, gene conversion events, translocations, etc.) RAG2 PCCB HAX1 NAGS FMR1 The test extends … DNAH5 NPHS1 HJV MPL LAMA3 FKTN EVC FKRP 1. embedded in sequence with complex architecture (e.g. *Panels can be ordered without X-linked disorders. OAT HFE Carrier screening is testing that's done to see whether you or your partner carry a genetic mutation that could cause a serious inherited disorder in your baby. TCIRG1 ERCC8 ETHE1 RAPSN LIFR HADHA DNAH5 Patients can also contact Client Services for billing and insurance-related questions. F5 FKRP CNGB3 CRB1 CLRN1 ARG1 ACOG: Carrier screening for genetic conditions. CHM MTHFR PCDH15 such as structural rearrangements (e.g. RPE65 Sensitivity to detect other copy number variants may be reduced. GJB1 In addition, this assay detects deletion of the enhancer element HS40 and the sequence variant, Constant Spring (NM_000517.4:c.427T>C). HGSNAT GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. Please see the Disorders Tested table for a complete list of disorders tested. DHDDS LPL USH1C SLC35A3 FH CLN5 MAN2B1 TTPA PRPS1 ATRX FANCG GNE SGCB SAMHD1 MMAA LDLR Easily add Invitae Non-Invasive Prenatal Screening (NIPS) to your carrier screening order to discover even … SLC26A4 Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, We are in a time-sensitive situation due to issues found during a non-invasive prenatal test (NIPT) and confirmed by an amniocentesis. breast, ovarian, colorectal, or uterine cancer. POMGNT1 SLC7A7 PFKM NEB STAR F2 © Invitae Corporation. RPGRIP1L CYP21A2 (Carrier): The most common variants (c.92C>T (p.Pro31Leu), c.293-13C>G (intronic), c.332_339delGAGACTAC (p.Gly111Valfs*21), c.518T>A (p.Ile173Asn), c.710T>A (p.Ile237Asn), c.713T>A (p.Val238Glu), c.719T>A (p.Met240lys), c.844G>T (p.Val282Leu), c.923dupT (p.Leu308Phefs*6), c.955C>T (p.Gln319*), c.1069C>T (p.Arg357Trp), c.1360C>T (p.Pro454Ser) and the 30Kd deletion) as well as select rare HGMD variants (list available upon request). 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