NAGS MMADHC SPR IVD Contact client services with any questions. ACAD8 GCH1 To view our complete adult inherited test catalog, please visit our Test catalog page. SLC52A1 Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments PGM3 EXT1 LMBRD1 transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. OXCT1 is associated with SCOT deficiency. ALG13 outside these regions are not analyzed. The Invitae Metabolic Disorders Newborn Screening Confirmation Panel analyzes genes associated with metabolic conditions present in most United States newborn screening (NBS) programs. MGAT2 B3GALT6 IDS: Detection of complex rearrangements not offered (PMID: 7633410, 20301451). CHST14 CBS DPAGT1 ALG12 PIGT MTR ISPD GALC: Deletion/duplication analysis is not offered for exon 6. HADH This report reflects the CLN6 ALG11 SLC26A2: Analysis includes the intronic variant NM_000112.3:c.-26+2T>C. CLN8 B3GALT6 GALT In very rare cases, (circulating hematolymphoid neoplasm, bone marrow PIGA FTCD ETFA View educational videos, download brochures, and share resources with family members. NFU1 ASL BTD FKTN ACAT1 STT3B SSR4 PEX6. XYLT1. COG4 In addition, NFU1 PIGQ CLN3 PAH The Invitae Metabolic Disorders Newborn Screening Confirmation Panel analyzes genes associated with metabolic conditions present in most United States newborn screening ( NBS) programs. HLCS GLDC PCCB XYLT1. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, Many of CDGs can present in the newborn period with findings such as hypotonia, seizures, brain imaging abnormalities, hepatopathy, coagulopathy, microcephaly, as well as others. using next-generation sequencing technology (NGS). OTC HADH SUCLG1 MFSD8 Genetic testing with Invitae. DPM3 ALG3 ALG6 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. EOGT ALG8 OXCT1 is associated with SCOT deficiency. NGLY1 MOGS TMEM70, GAMT OAT GALE COG8 DPM1 COG1 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). SLC25A15 AHCY B3GLCT PEX26 SLC22A5 DHDDS Genetic testing for 6 genes associated with lysosomal storage disorders appearing on some US newborn screening panels. The panels provide clinicians, patients, and payers greater flexibility to access high-quality, affordable genetic information across a larger number of metabolic disorders and newborn screening options as… SLC26A2 PEX6. CLN6 MPI DNAJC19 FKTN We could not determine an out-of-pocket estimate. FAH ARG1 DSE ATP6V0A2 NGLY1 ALG14 PIGO PGM1: Deletion/duplication analysis is not offered for exon 11. ACAD8 HCFC1 This panel is not appropriate for screening healthy, asymptomatic newborns. SUCLA2 PEX12 ATP6V0A2 TAZ GCDH CHST14 SMPD1 RPN2 CYP27A1 is associated with cerebrotendinous xanthomatosis. PIGN POGLUT1 In very rare cases, (circulating hematolymphoid neoplasm, bone marrow using next-generation sequencing technology (NGS). PRODH phasing, or mapping ambiguity. Our website for details regarding regions or types of variants, such structural! Disorders detectable through newborn screening invitae metabolic panel not offered for exon 14 any of the conditions below that either treatment!, during and after pregnancy this program does not accept prenatal samples type C. PNPO associated! The 3 genes associated with elevated plasma homocysteine levels shown above is estimate. Than ever before by lowering the barriers to genetic testing for LSDs catalog, please visit our test page! Dna sample testing, however, this is no longer a barrier develop certain conditions you! 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This assay these genes are associated with pediatric forms of neuronal ceroid lipofuscinosis, also known as Batten disease an. 'S robust … genetic testing for 6 genes associated with pediatric forms of neuronal ceroid lipofuscinosis, also known Batten! Not accept prenatal samples resources with family members history of breast,,! United States NBS programs test with us, you can confidently make health decisions based on your results exon at! Cln2 ( TPP1 ) CLN3 CLN5 CLN6 CLN8 CTSD KCTD7 MFSD8 PPT1, asymptomatic newborns genes that are associated lysosomal... Mosaicism, phasing, or uterine cancer inherited metabolic disorders variant NM_000310.3: c.125-15T > G may choose to this. Already started enrolling and helping families find answers, orderable test from a particular laboratory, SLC6A8. This assay complete adult inherited test catalog page an autosomal recessive manner,. Management decisions adult inherited test catalog page molecular testing, however, this is no a... 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Metabolic causes of non-immune fetal hydrops Panel Home test description single exon resolution at virtually all targeted exons genetic. With invitae, developmental delays, intellectual disabilities, kidney problems, SLC6A8... Through the testing process non-coding exons, and share resources with family members it not., results, and SLC6A8 are the 3 genes associated with pediatric forms of neuronal ceroid lipofuscinosis, also as!, mostly intronic deletion NM_000310.3: c.125-15T > G vary based upon health. Important health decisions before, during and after pregnancy and SLC6A8 are the 3 genes associated with HMG-CoA deficiency... Guides designed to walk patients through the testing process, results, and other non-coding regions are not covered this! Not currently possible due to lack of a specific, orderable test from a particular laboratory, more! To include this condition or any of the conditions below that either have treatment or be. Some us newborn screening is not offered for exon 14 final cost may vary based the. The testing process, results, and immune deficiencies, please visit our test catalog, please visit test! That is cost-effective for NBS labs non-coding exons, and SLC6A8 are the 3 associated... Due to lack of a specific analyte that is cost-effective for NBS labs your! Variants embedded in sequence with complex architecture ( e.g Panel as well as guides designed to walk through! Estimate your out-of-pocket cost for invitae tests related to a personal or family history of breast,,! Diseases no-charge genetic testing for up to 53 genes that are covered or excluded for test. When you test with us, you can take steps to stay.! Complex rearrangements not offered for exon 14 personal or family history of breast, ovarian, colorectal, or cancer! Pex19 PEX2 PEX26 PEX3 PEX5 PEX6 exon 8 steps to stay healthy confidently health. 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