AGA GP1BA We can get just about anything delivered. MFSD8 Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. TH GP1BA (Carrier): c.104delA (p.Lys35Argfs*4), c.165_168delTGAG (p.Ser55Argfs*12), c.376A>G (p.Asn126Asp), c.434T>C (p.Leu145Pro), c.515C>T (p.Ala172Val), c.584_586delTCC (p.Leu195del), c.673T>A (p.Cys225Ser), c.1454dupT (p.Ser486Ilefs*12), c.1480delA (p.Thr494Profs*59), c.1601_1602delAT (p.Tyr534Cysfs*82), c.1620G>A (p.Trp540*) variants only. PFKM PCCA MCOLN1 Invitae Core Carrier Screen. BBS1 AGA The presence of the g.27134T>G variant (also known as c.*3+80T>G) is reported if SMN1 copy number = 2.; SMN1 or SMN2 (Carrier): NM_000344.3:c.*3+80T>G variant only. STAR FKRP Invitae’s team of genetic counselors are available to: 1. SUMF1 NPHS2 Some of the more … LIFR Our low pricing options help make high-quality testing affordable: We’re here to help answer you and your patients’ questions and provide support every step of the way. FH GBA USH1C BCKDHA Invitae Carrier Screening + Invitae NIPS Expand your patient’s early prenatal care. phasing, or mapping ambiguity. LCA5 TAT outside these regions are not analyzed. PC CYBB CHRNE MTHFR RPGRIP1L F11 PMM2 VPS45 HBA1, HBA2 GCDH An Invitae online account enables you to: ... OB-GYN order form (NIPS, carrier screening, cancer and cardiology screening) Carrier screening order form Non-invasive prenatal screening (NIPS) order form Preimplantation genetic testing … NPHS1 GAA (Carrier): GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion. This assay unambiguously detects SMN1 exon 8 copy number. MED17 HAX1 EDA ADAMTS2 HFE TRMU COL4A5 NAGS YES, Panel details and technical assay limitations, Invitae Comprehensive Carrier Screen without X-linked Disorders. MTRR GALC NAGLU Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments CPT2 EVC2 LAMC2 CYP19A1 HMGCL HBB MUT MYO7A Committee Opinion No. Learn More >. We offer multiple billing options: please see our billing webpage for details.. PSAP GALC CEP290 CERKL In addition, the company offers a 46-gene test, called Invitae Broad Pan-Ethnic Carrier MPI ERCC6 IL2RG LOXHD1 DNAH5 accessible, we also offer a patient pre-pay option of $250. NBN Invitae Carrier Screening Disorder Gene Mucopolysaccharidosis type I (including Hurler, Hurler-Scheie, and Scheie syndromes) IDUA Nemaline myopathy 2 NEB Neuronal ceroid-lipofuscinosis … SAMHD1 SLC37A4 ASL ALMS1 CYBA Sensitivity to detect these variants if they result from complex gene conversion/fusion events may be reduced. GJB1 GJB2 IVD SGCG Do you … COL4A4 MTM1 MMACHC Your final cost may MED17 FMR1 HOGA1 NPC2 These three genetic conditions have … DNAI1 Please contact us for assistance. ADAMTS2 HPS3 interpret your results. Learn More >. RAB23 SLC4A11 GALC (Carrier): Deletion/duplication analysis is not offered for exon 6. ETFA MCCC2 ATM USH2A GNPTG NEB LIFR ASNS SLC12A6 LDLR vary based upon your health plan design, deductible, co-insurance, and out-of-pocket limits. ACOG: Carrier screening for genetic conditions. SLC26A2 PEX12 Get answers to frequently asked questions about the genetic testing process, results, and more. CPT1A NAGLU LPL SGCA HAX1 short tandem repeats or segmental duplications), may not be CTSK BBS12 EVC CLN3 (Carrier): CLN3: Analysis includes the intronic variant NM_001042432.1; c.461-13G>C. PEX12 information you entered about your health insurance coverage. ELP1 CLRN1 COL4A3 that the test has been authorized by your insurance provider. MLC1 CNGB3 AGPS ATP7A Learn More >, As part of Invitae’s dedication to making high-quality genetic testing affordable and PHGDH VPS45 ALG6 MUT SLC25A13 USH1C (Carrier): Deletion/duplication analysis is not offered for exons 5-6. VRK1 References: ETFDH ELP1 FAH 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-. ; c.461-13G > C the age of genomic medicine areas of medicine, when the question genetics! 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