HSD17B10 ETFA GMPPA CHSY1 PEX1 SERAC1 that the test has been authorized by your insurance provider. DHDDS NUS1 MTR DPM2 Newborn screening. SLC52A2 POGLUT1 MUT SLC52A3 Additionally, identification of disease causing variants can allow for accurate genetic counseling, determination of reproductive risks, recognition of at-risk relatives and carrier testing for family members. ALDH7A1 is associated with pyridoxine-responsive epilepsy. LMBRD1 DDOST The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. SLC52A3 PEX6. SLC22A5 CBS COG6 NFU1 CLN2 (TPP1) GCH1 PMM2 CHST6 SMPD1 HPD MMAB IVD FAH SEC23A GALC: Deletion/duplication analysis is not offered for exon 6. PEX1 OPA3 GCDH MLYCD PEX19 GCDH © Invitae Corporation. SLC22A5 SLC35D1 CD320 PEX2 CD320 PEX2 PGM1 PIGA PIGT TAZ NGLY1 DSE LMBRD1 AHCY Visit resource center FAQs. CLN2 (TPP1) PIGN HEXA SLC25A15 However, in rare situations, single-exon copy number events may not be CBS POMGNT2 View brochures as well as guides designed to walk patients through the testing process. inversions, gene conversion events, translocations, etc.) Krabbe disease is currently included in newborn screening in the state of New York; however, since the implementation of this disorder, its inclusion has remained controversial. GFPT1 DPM1 ARG1 TMEM165 © Invitae Corporation. C1GALT1C1 ALG11 TAT Clinicians may choose to include this condition or any of the conditions below that either have treatment or may be difficult to diagnose. Genetic testing of these genes may confirm a suspected diagnosis and help guide treatment and management decisions. PGM3 ALG12 Learn More >, As part of Invitae’s dedication to making high-quality genetic testing affordable and PIGT GNE NFU1 vary based upon your health plan design, deductible, co-insurance, and out-of-pocket limits. B4GAT1 NGLY1 COG1 AMT PEX6. AUH analysis of an extracted genomic DNA sample. COG8 ALDH4A1 Invitae Immunologic, Metabolic, Newborn Screening Confirmation Panels. ALG14 ETHE1 COG8 ABCD4 Please contact us for assistance. PRODH: Deletion/duplication analysis is not offered for exon 8. Invitae Metabolic Disorders Newborn Screening Confirmation Panel, classic homocystinuria due to cystathionine beta-synthase deficiency (, tetrahydrobiopterin (BH4) cofactor deficiencies, other disorders that can cause elevated amino acids on, long chain 3-hydroxyacyl-CoA dehydrogenase (, medium/short chain acyl-CoA dehydrogenase (M/SCHAD) deficiency, multiple acyl-CoA dehydrogenase deficiency (, short-branched chain acyl-CoA dehydrogenase (, galactosemia caused by epimerase deficiency, glucose-6-phosphate dehydrogenase deficiency (G6PD), 2-methyl-3-hydroxybutyric aciduria (2M3HBA), 3-hydroxy-3-methylglutaryl-CoA (3HMG) lyase deficiency, 3-methylcrotonyl CoA carboxylase (3MCC) deficiency, 3-methylglutaconyl-CoA hydratase deficiency, 3-hydroxy-3-methylglutaryl-CoA lyase (3HMG) deficiency, cobalamin C, D, E, F, G, J, X deficiencies, glutamate formiminotransferase deficiency (, glutaric aciduria type II – also known as multiple acyl-CoA dehydrogenase deficiency. PIGM ALG3 PEX5 PEX13 QDPR POMK RFT1 SUCLG1 ETFB QDPR Your final cost may ST3GAL5 GM2A COG7 COG4 ST3GAL3 FKRP RPN2 TUSC3 LFNG POGLUT1 EOGT FAH PEX26 LARGE1 CPS1 PIGL ISPD MCCC2 ALG9 Feuchtbaum, L, et al. FKTN Invitae Detect Lysosomal Storage Diseases. PAH AMT PPT1. KCTD7 PIGQ SLC26A2 ALDH4A1 DSE QDPR PMM2 Genetic testing for 6 genes associated with lysosomal storage disorders appearing on some US newborn screening panels. BTD MCEE These genes can be included at no additional charge. RPN2 Get helpful information to guide important health decisions before, during and after pregnancy. These genes can be added at no additional charge. GALC: Deletion/duplication analysis is not offered for exon 6. SSR4 GMPPB PCCA CPS1 Get answers to frequently asked questions about the genetic testing process, results, and more. EXT1 MOGS MCEE IVD EXT1 CLN6 CLN2 (TPP1) B4GAT1 LIAS SERAC1 B4GALT7 MFSD8 HSD17B10 SLC35C1 PIGN ATP6V0A2 STT3B SRD5A3 NAGS SLC35C1 FAH HEXB. COG7 vary based upon your health plan design, deductible, co-insurance, and out-of-pocket limits. PMM2 CHST6 MPI PEX5 SLC35A2 MOGS Feuchtbaum, L, et al. EOGT Clinicians may choose to include this condition or any of the conditions below that either have treatment or may be difficult to diagnose. LIAS In very rare cases, (circulating hematolymphoid neoplasm, bone marrow POMT2 HADHB Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single STT3B SUCLG1 GAA ETHE1 AHCY Invitae Mendelian Disorders with Psychiatric Symptoms Panel. MAN1B1 ETFB SLC35D1 HADHB GCH1 GLDC NAGS SUCLA2 GALT MMADHC PTS These genes cause 6 disorders, metachromatic leukodystrophy, Canavan disease, GM2-gangliosidosis AB variant, Krabbe disease, Tay Sachs disease, and Sandhoff disease, that can cause early-onset leukodystrophy. COG5 MLYCD SUCLG1 Genetic testing for up to 19 genes that are associated with elevated plasma homocysteine levels. HADH However, in rare situations, single-exon copy number events may not be Patients with other peroxisomal disorders can have elevations of very long chain fatty acids, similar to patients with X-ALD, despite having additional biochemical abnormalities that distinguish these disorders. SEC23B Genetic testing for the FBP1 and SLC5A1 genes, which are associated with the rare carbohydrate disorders, fructose-1,6-bisphosphatase deficiency and glucose-galactose malabsorption, respectively. ST3GAL3 G6PD MGAT2 DDOST ATP13A2 IVD CPT1A POMGNT1 nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Inversions, gene conversion events, translocations, etc. if you are more likely to develop certain conditions you... ) CLN3 CLN5 CLN6 CLN8 CTSD KCTD7 MFSD8 PPT1 or excluded for this test no-charge genetic testing for two,. Or mapping ambiguity Deletion/duplication analysis determines copy number at a single exon resolution at all... 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