Test Ordered- EPIC: Next generation sequencing(next Gen) Sunquest: NGS

Transcription

1 UNIVERSITY OF MINNESOTA PHYSICIANS OUTREACH LABS MOLECULAR DIAGNOSTICS (612) DATE: TIME COLLECTED: AM PM PCU/CLINIC: DIAGNOSIS (Dx) / DIAGNOSIS CODES (ICD-9) - OUTPATIENTS ONLY (1) (2) SPECIMEN TYPE: o Blood PATIENT IDENTIFICATION (3) (4) PLEASE COLLECT 5-10CC IN ACD-A OR EDTA TUBE ORDERING PHYSICIAN NAME AND PHONE NUMBER: Tests can be ordered as a full panel, or by individual gene(s). Please contact the genetic counselor with any questions at or by pager at Test Ordered- EPIC: Next generation sequencing(next Gen) Sunquest: NGS 2- Methyl- 3- hydroxybutyric aciduria 2- Methylbutyryl- CoA dehydrogenase ACADSB 3- Hydroxy 3- methylglutaric aciduria HMGCL 3- hydroxyacyl- CoA dehydrogenase HADH 3- hydroxyisobutryl- CoA hydrolase HIBCH 3- Methylcrotonyl- CoA carboxylase MCCC1 MCCC2 3- methylglutaconic aciduria (other types) II TAZ 3- methylglutaconic aciduria (other types) III OPA3 3- methylglutaconic aciduria (other types) V DNAJC19 3- Methylglutaconic aciduria type I AUH Acatalasemia CAT Acid- labile subunit, of IGFALS Alkaptonuria HGD alpha subunit of the succinate- CoA ligase enzyme (mito depletion w/ methylmalonic acidemia) SUCLA2 Alpha- methylacetoacetic aciduria Aminoacylase 1 ACY1 Arginemia ARG1 Argininosuccinate acidemia ASL ASPARAGINE SYNTHETASE DEFICIENCY ASNS Aspartylglycosaminuria AGA beta subunit of the succinate- CoA ligase enzyme (mito depletion w/ methylmalonic acidemia SUCLG1 Beta- ureidopropionase UPB1 BIOTINIDASE BTD HLCS Calcification of joints and arteries NT5E Canavan disease ASPA Carboxylesterase 1 CES1 Carnitine acetyltransferase Carnitine acylcarnitine translocase SLC25A20 Carnitine palmitoyltransferase CPT1A CPT2 Carnitine uptake defect Cerebral creatine 1 SLC6A8 Chylomicron retention disease SAR1B Submit this form along with the appropriate Molecular requisition (Molecular Diagnostics or Molecular NGS Oncology). Citrullinemia ASS1 SLC25A13 Coenzyme Q10 COQ2 PDSS1 PDSS2 ADCK3 COQ9 COQ6 Combined malonic and methylmalonic aciduria ACSF3 D- 2- hydroxyglutaric aciduria D2HGDH IDH2 D- glyceric aciduria GLYCTK Defects of biopterin cofactor regeneration PCBD1 PTS Deficiency of butyrylcholine esterase BCHE Dienoyl- CoA reductase DECR1 Dihydrolipoamide dehydrogenase DLD Dihydropyrimidine dehydrogenase DPYD Dihydropyrimidinuria DPYS Dimethylglycine dehydrogenase DMGDH

2 Dopamine beta- hydroxylase DBH DRD BH4 SYNTHESIS SPR Epsilon- trimethyllysine hydroxylase TMLHE Ethylmalonic encephalopathy ETHE1 Familial Hyperinsulinemia ABCC8 KCNJ11 Folate malabsorption, hereditary SLC46A1 Fructose intolerance ALDOB Fructose- 1,6- bidphosphatase FBP1 Galactosemia GALK1 GALE GALT Galactosialidosis CTSA Glutamate formiminotransferase FTCD Glutamine, congenital GLUL Glutaric academia ETFA ETFB ETFDH GCDH Glutathione synthetase GSS Glycerol kinase GK Glycine encephalopathy GCSH GLDC Glycine N- methyltransferase GNMT Glycogen storage disease GYS1 G6PC SLC37A4 GAA AGL GBE1 PHKG2 PHKA1 PYGM PYGL PFKM PGAM2 LDHA ALDOA ENO3 PGM1 GYG1 PHKB GYS2 PHKA2 PIGM Glycosylphosphatidylinositol PIGM Heme oxygenase- 1 HMOX1 Hereditary orotic aciduria UMPS HMG- CoA synthase- 2 HMGCS2 HOMOCYSTEINURIA CBS MTHFR Hypercarotenemia and vitamin A, autosomal dominant BCMO1 Hyperglycinuria SLC6A20 Hyperhomocystinemia - methionine synthase reductae - cble MTRR Hyperhomocystinemia - methionine synthase- cbl G MTR Hyperinsulinism- hyperammonemia GLUD1 Hyperlysinemia AASS Hypermethioninemia due to adenosine kinase ADK Hypermethioninemia with of S- adenosylhomocysteine hydrolase AHCY Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III MAT1A Hyperphe/biopterin metabolism QDPR PCBD1 PAH SPR Hyperoxaluria, primary, type III HOGA1 Hypoglycemia ABCC8 ACAT2 AGL ALDOA ENO3 G6PC GAA GBE1 GYS1 GYS2 KCNJ11 LDHA OXCT1 PFKM PGAM2 PGM1 PHKA1 PHKA2 PHKB PHKG2 PYGL PYGM SLC37A4 hypophosphotasia ALPL Isobutyryl- CoA dehydrogenase ACAD8 ISOVALERIC ACIDEMIA IVD L- 2- hydroxyglutaric aciduria L2HGDH Lactase, congenital LCT Lactate dehydrogenase- B LDHB LCHAD Leukotriene C4 synthase LTC4S

3 Lysinuric protein intolerance SLC7A7 Malonyl- CoA decarboxylase MLYCD Maple syrup urine disease BCKDHA BCKDHB DBT MCAD ACADM Methylmalonate semialdehyde dehydrogenase ALDH6A1 Methylmalonic acidemia MCEE MMADHC LMBRD1 MUT MMAA MMAB ABCD4 Mevalonic aciduria MVK mitochondrial acetoacetyl- CoA thiolase Molybdenum cofactor A MOCS1 MOCS2 GPHN N- acetylaspartate NAT8L N- terminal acetyltransferase NAA10 Non- ketotic hyperglycinemia AMT Norum disease LCAT PEPCK, mitochondrial PCK2 PKU PAH Phosphoenolpyruvate carboxykinase- 1, cytosolic, PCK1 Phosphoglycerate dehydrogenase PHGDH Phosphoglycerate kinase 1 PGK1 Phosphoserine aminotransferase PSAT1 Phosphoserine phosphatase PSPH Prolidase PEPD Propionicacidemia PCCA PCCB Pyruvate dehydrogenase lipoic acid synthetase LIAS Riboflavin SLC52A1 Ribose 5- phosphate isomerase RPIA AICA- ribosiduria due to ATIC ATIC Rickets SLC34A3 DMP1 FGF23 ENPP1 PHEX VDR CYP2R1 CYP27B1 SBCAD ACADSB SCAD ACADS Succinic semialdehyde dehydrogenase ALDH5A1 Sucrase- isomaltase, congenital SI Sulfite oxidase SUOX Thiamine metabolism dysfunction 2 (biotin- or thiamine- responsive encephalopathy type 2) SLC19A3 Thiamine metabolism dysfunction 5 (episodic encephalopathy type) TPK1 Transaldolase TALDO1 transcobalamin receptor (TCBlR) (transcobalamin transport issue) CD320 Trifunctional protein HADHB Trimethylaminuria FMO3 Tumoral calcinosis, hyperphosphatemic, familial GALNT3 Tyrosinemia FAH TAT HPD Urea Cycle ARG1 ASL CPS1 ASS1 NAGS OTC Urocanase UROC1 VLCAD ACADVL Xanthinuria, type I XDH

4 Nuclear mitochondrial genes 3- Methylcrotonyl- CoA carboxylase 1 MCCC1 3- Methylcrotonyl- CoA carboxylase 2 MCCC2 3- methylglutaconic aciduria, type I AUH ACAD9 ACAD9 Acetyl- CoA carboxylase ACACA Acetyl- CoA carboxylase ACACB Argininemia ARG1 Autosomal Recessive Spastic Ataxia with Leukoencephalopathy MARS2 Barth TAZ Biotinidase BTD Carbamoylphosphate synthetase I CPS1 Carnitine, systemic primary Carnitine- acylcarnitine translocase SLC25A20 Charcot- Marie- Tooth disease, recessive intermediate, B KARS Citrullinemia, type II SLC25A13 Coenzyme Q10, primary, 1 COQ2 PDSS1 PDSS2 ADCK3 COQ9 Combined oxidative phosphorylation GFM1 MTO1 EARS2 FARS2 MTFMT ELAC2 MRPS16 TSFM TUFM MRPS22 C12orf65 AARS2 MRPL3 Congenital disorder of glycosylation MPI PMM2 CPT CPT1B CPT1A CPT2 cytochrome c oxidase SCO2 COX15 COX6B1 COX4I1 COX7A1 COX14 Dihydrolipoamide dehydrogenase DLD Ethylmalonic encephalopathy ETHE1 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis COX4I2 Glutaric acidemia ETFA ETFB ETFDH Glycogen storage disease GYS1 G6PC SLC37A4 GAA AGL GBE1 PHKG2 PYGL PFKM PGAM2 PGM1 GYS2 PHKA2 PYGM PHKA1 PHKB Hepatic failure, early onset, and neurologic disorder SCO1 Holocarboxylase synthetase HLCS Homocystinuria- megaloblastic anemia, cbl E type MTRR Hyperornithinemia- hyperammonemia- homocitrullinemia SLC25A15 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis SARS2 Isovaleric acidemia IVD Lacticacidemia due to PDX1 PDHX Leigh BCS1L NDUFA10 NDUFAF2 NDUFS4 NDUFS7 SDHA COX15 FOXRED1 NDUFA12 NDUFA2 NDUFA9 NDUFAF6 NDUFS3 NDUFS8 SURF1 LRPPRC PDHA1 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation DARS2 Liver failure, transient infantile TRMU Methylmalonic aciduria MMACHC MMADHC LMBRD1 MUT MMAA MMAB Mitochondrial complex 1 NDUFAF5 FOXRED1 NDUFA1

5 NDUFA10 NDUFA11 NDUFAF1 NDUFAF3 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFV1 NDUFV2 NUBPL Mitochondrial complex II SDHAF1 Mitochondrial complex III BCS1L TTC19 UQCRB UQCRQ Mitochondrial complex IV COA5 FASTKD2 TACO1 Mitochondrial complex V (ATP synthase) ATPAF2 TMEM70 ATP5E Mitochondrial DNA depletion TYMP AGK SLC25A4 TK2 DGUOK POLG SUCLA2 MPV17 C10orf2 RRM2B SUCLG1 Mitochondrial myopathy and sideroblastic anemia 1 PUS1 Mitochondrial phosphate carrier SLC25A3 Mohr- Tranebjaerg / Jensen TIMM8A Multiple mitochondrial dysfunctions NFU1 BOLA3 Myoglobinuria, acute recurrent, autosomal recessive LPIN1 Myopathy with lactic acidosis, hereditary ISCU Myopathy, lactic acidosis, and sideroblastic anemia 2 YARS2 N- acetylglutamate synthase NAGS Deafness, autosomal recessive 89 KARS Alpha- methylacetoacetic aciduria LCAD ACADL MCAD ACADM Optic atrophy OPA3 OPA1 Ornithine transcarbamylase OTC Paragangliomas SDHAF2 SDHC SDHB Perrault HARS2 LARS2 Pontocerebellar hypoplasia RARS2 Progressive external ophthalmoplegia SLC25A4 POLG2 RRM2B C10orf2 Propionicacidemia PCCB PCCA Pyruvate carboxylase PC Pyruvate dehydrogenase E1- alpha PDHA1 Pyruvate dehydrogenase E1- beta PDHB Pyruvate dehydrogenase E2 DLAT Pyruvate dehydrogenase phosphatase PDP1 Spastic paraplegia 55, autosomal recessive C12orf65 Thiamine metabolism dysfunction 4 SLC25A19 Transcobalamin II TCN2 Trifunctional protein HADHB Additional nuclear mitochondrial genes MRRF NARS2 NDUFA13 NDUFA4 NDUFA6 NDUFA7 NDUFA8 NDUFAF2 NDUFAF7 NDUFB1 NDUFB6 NDUFC2 NDUFS5 NDUFV3 TFAM TFB1M

6 Fatty acid oxidation Disorders CPT CPT1B CPT1A CPT2 ACAD9 ACAD9 ACADL ACADL Acyl- CoA dehydrogenase, medium chain, of ACADM Acyl- CoA dehydrogenase, short- chain, of ACADS Barth TAZ Carnitine, systemic primary Carnitine- acylcarnitine translocase SLC25A20 LCHAD / Trifunctional protein Myoglobinuria, acute recurrent, autosomal recessive LPIN1 Trifunctional protein HADHB VLCAD ACADVL Lysosomal disease Alpha Mannosidosis MAN2B1 Alpha NAGA NAGA Combined SAP Fabry disease GLA Free Sialic Acid Storage SLC17A5 Fucosidosis FUCA1 Gaucher GBA Gaucher disease, atypical GM1 gangliosidosis GLB1 GM2 gangliosidosis AB variant GM2A Hunter IDS Hurler IDUA I cell disease GNPTAB Krabbe GALC Krabbe disease, atypical Lysosomal Acid Lipase LIPA Mannosidosis, beta MANBA Maroteaux Lamy ARSB Metachromatic leukodystrophy ARSA Metachromatic leukodystrophy due to SAP- b Morquio A GALNS Mucopolysaccharidosis type IVB (Morquio) GLB1 Mucolipidosis IV MCOLN1 Mucopolysaccharidosis type IX HYAL1 Multiple sulfatase SUMF1 Niemann- Pick disease, type A/B SMPD1 Niemann- Pick disease, type C1, type D NPC1 Niemann- pick disease, type C2 NPC2 Mucopolysaccharidisis type IIIA (Sanfilippo A) SGSH Mucopolysaccharidosis type IIIB (Sanfilippo B) NAGLU Mucopolysaccharidosis type IIIC (Sanfilippo C) HGSNAT Mucopolysaccharidosis type IIID / San Filippo D GNS Sandhoff disease HEXB Sialidosis NEU1 Sly GUSB Tay Sachs HEXA