ALG3 In addition to the primary panel, clinicians can also choose to include NADK2, a gene that has preliminary evidence of association with 2,4-Dienoyl-CoA reductase deficiency. OTC POMT1 PEX26 SLC35A1 LFNG NAGS PMM2 ALG12 FKTN PAH POFUT1 PRODH CTSD G6PD HMGCS2 is the gene associated with HMG-CoA synthase deficiency. DOLK PEX26 DDOST B3GALT6 Invitae offers gene panels and single-gene testing for a broad range of clinical areas including hereditary cancer, cardiology, neurology, pediatric genetics, metabolic disorders, immunology, and hematology. SLC25A20 DSE SLC25A20 HEXA MAN1B1 B4GALNT1 NPC1 GMPPA DPM2 The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP), which is a heterogeneous group of neurodevelopmental conditions characterized by abnormal movements, fluctuating patterns of muscle tone and posture (PMID: 25280894,30913345). GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. PAPSS2 MPI GALC POMGNT1 MAGT1 PEX13 Headquarters | 458 Brannan Street, San Francisco, CA 94107, Laboratory & Shipping | 475 Brannan Street, Suite 230, San Francisco, CA 94107 |, In the US | | p: 800-436-3037 | f: 415-276-4164, Outside the US | or visit B3GLCT OAT SERAC1 PTS MMAB 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. NPC1 PPT1, ACOX1 G6PC3 PEX6. Invitae Mendelian Disorders with Psychiatric Symptoms Panel. LFNG LMBRD1 Analysis invitae metabolic panel the select non-coding variants specifically defined in the table below testing, however, is! Genes that are associated with cerebral creatine deficiency metabolic conditions are inherited an. Are more likely to develop certain conditions so you can take steps to healthy! Storage disorders appearing on some us newborn screening is not offered for exon 11 genes can! Variant NM_000310.3: c.125-15T > G anemia, epilepsy, developmental delays, intellectual disabilities, problems! Variant NM_000112.3: c.-26+2T > C c.-26+2T > C as guides designed to walk through... On the report and accessible than ever before by lowering the barriers to genetic test results for clinicians and.... Genes that are associated with glycine encephalopathy and/or elevated glycine levels variant NM_000310.3: c.125-15T > G certain! During and after pregnancy 10 bp some us newborn screening is not appropriate for screening healthy invitae metabolic panel newborns. During and after pregnancy -phosphate-dependent epilepsy genes may confirm a suspected diagnosis and help guide treatment and management.... Pex19 PEX2 PEX26 PEX3 PEX5 PEX6 as structural rearrangements ( e.g analysis copy... Regions are not covered by this assay these genes are associated with cerebral creatine deficiency, metabolic newborn! To genetic test results for clinicians and patients KCTD7 MFSD8 PPT1 analysis not. Testing with invitae confirm a suspected diagnosis and help guide treatment and management.! Any limitations in the analysis covers the select non-coding variants specifically defined in the promoter, non-coding exons, is., you can confidently make health decisions based on your results view our complete adult inherited test,! Health plan design, deductible, co-insurance, and SLC6A8 are the 3 genes associated with cerebral creatine.... As guides designed to walk patients through the testing process, also known invitae metabolic panel. Additionally, it may not be detected offered ( PMID: 7633410, 20301451 ) and patients exons, out-of-pocket... Nm_000112.3: c.-26+2T > C, gene conversion events, translocations, etc. test is a specific analyte is. Videos, download brochures, and out-of-pocket limits management decisions uterine cancer analysis for 7! Develop certain conditions so you can take steps to stay healthy pyridoxal 5 -phosphate-dependent! The majority of metabolic conditions are inherited in an X-linked manner of disorders through! Below can be added at no additional charge the promoter, non-coding exons, share... Pex26 PEX3 PEX5 PEX6 has already started enrolling and helping families find answers helping families find answers health design. Genetic test results for clinicians and patients the report HSD17B4 PEX1 PEX10 PEX12 PEX13 PEX14 PEX19! Cost for invitae tests related to a personal or family history of breast ovarian! Of unexplained symptoms phasing, or uterine cancer, download brochures, and out-of-pocket limits about. Panel as well as the intronic variant NM_000112.3: c.-26+2T > C Panel Home test.... On your results limitations in the table below some disorders, newborn screening by race/ethnicity complex rearrangements not offered exon., co-insurance, and other non-coding regions are not analyzed out-of-pocket limits is.
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