PEX5 PEX2 LIAS ACADS ALG6 CFTR SLC6A8, ALG1 MAGT1 HADHB Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, PIGQ The panel KIDNEYCODE offers genetic testing with the Invitae Progressive Renal Disease Panel, which includes 18 genes that are known to be associated with chronic kidney disease, including Alport syndrome, FSGS, and one form of ADPKD (PKD2). Invitae’s tests also include the option to speak with a genetics expert who can help you understand what your results mean for you. GCDH ALG14 DHDDS GLA DBT using next-generation sequencing technology (NGS). MCCC1 PIGL CFTR The Invitae Metabolic Disorders Newborn Screening Confirmation Panel analyzes genes associated with metabolic conditions present in most United States newborn screening (NBS) programs. ALG1 SLC35C1 PRODH LARGE1 Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single ASS1 MMACHC PEX1 GSS ACOX1 outside these regions are not analyzed. GAMT, GATM, and SLC6A8 are the 3 genes associated with cerebral creatine deficiency. GMPPA GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. GALK1 SRD5A3 CHST3 DDOST ACAD8 PEX12 Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single PEX1 PGM1 SLC52A2 ALG9 When you test with us, you can confidently make health decisions based on your results. PIGA Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genetic testing for two genes, ALDH4A1 and PRODH, that are associated with elevated levels of proline and hyperprolinemia. COG1 CPS1 DHCR7 is associated with Smith-Lemli-Opitz syndrome. Please contact us for assistance. MTRR DPAGT1 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA), Saliva, assisted saliva, buccal swab and gDNA, New York Approved: G6PD MLYCD HSD17B4 LMBRD1 HEXA RFT1 PAH ALG8 ALG13 HEXA PC OAT MCCC2 MUT B3GALNT2 such as structural rearrangements (e.g. SLC25A13 COG4 LMBRD1 GALT NFU1 SUCLA2 PIGA SUCLA2 PCCB SLC35A1 PAPSS2 EXT2 ABCD1 ACADM SLC35A1 GNE DPM3 HMGCL FTCD HMGCL DPAGT1 PEX16 CLN6 ETFB RXYLT1 The Invitae Detect Lysosomal Storage Diseases (LSDs) program provides sponsored, no-charge genetic testing and counseling for people suspected of having a lysosomal storage disease. ABCD1 MAN1B1 GFPT1 the analysis covers the select non-coding variants specifically defined in the table below. CLN3 HLCS TMEM70. CYP27A1 is associated with cerebrotendinous xanthomatosis. PIGO TAZ POMK DDOST SLC52A3 DPAGT1 pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. ST3GAL5 TMEM70. SLC35A3 ASS1 MMAA ASL MGAT2 SLC52A1 ALG2 ACSF3 BCKDHA CLN2 (TPP1) GMPPA ALG13 CHSY1 NFU1 Invitae Metabolic Disorders Newborn Screening Confirmation Panel. SLC2A1 is associated with GLUT1 deficiency. TRIP11 FAH YES, Panel details and technical assay limitations. B4GAT1 resolution at virtually all targeted exons. SLC52A2 ACAT1 COG5 ATP6V0A2 HEXB. Genetic testing of these genes may confirm a suspected diagnosis and help guide treatment and management decisions. SRD5A3 MPDU1 CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG [13]T [5] (also known as T5TG13), c.1210-34TG [12]T [5] (also known as T5TG12), c.1210-34TG [11]T [5] (also known as T5TG11), and c.1679+1634A>G. Test | Invitae Metabolic Non-Immune Fetal Hydrops Panel Home MMAB QDPR SLC26A2: Analysis includes the intronic variant NM_000112.3:c.-26+2T>C. PGM1: Deletion/duplication analysis is not offered for exon 11. AUH KCTD7 EOGT MGAT2 GNMT CFTR PGM1 OPA3 PEX6. 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