LISTE DES ANALYSES HORS-QUEBEC List for testing done out of Québec LABORATOIRE CLINIQUES CUSM MUHC CLINICAL LABS

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1 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE 11-ß-prostaglandin F2a urine, collect 4 C, 25 ml 50% Hac 21-Hydroxylase Antibodies, Serum autoimmume adrenal Red Top; store serum failure frozen a1-acid glycoprotein Obsolete name: orsomucoid serum Hospitals In Common Acetaminophen quantitation; to determine clearance serum Hospitals-In-Common Acetazolamide Red Top (not SST) Prometheus Adalimumab (Anser ADA) or Red Top Quote Therapeutics and Adenosine Deaminase ACD (yellow), 4 C ADH Sacre Coeur ADmark Early Onset Alzheimer's Evaluation ; ; PSEN1; PSEN2; APP Alzheimer's disease ADmark Phospho-Tau/Total-Tau/Ab42 CSF Analysis & Interpretation (Symptomatic) Alzheimer's disease CSF Adrenal hyperplasia due to 21-hydroyxlase deficiency (201910) CYP21A Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency; Hypoaldosteronism congenital due to CMO I deficiency CYP11B1; CYP11B ; Alexander disease (203450) GFAP alpha-actin (skeletal muscle form)-related myopathy via the ACTA1 gene ACTA nemaline myopathy (NEM3; OMIM #161800) and congenital fiber-type disproportion (CFTD1; OMIM #255310) & MLPA gene Alberta Mol Dx Laboratory (Calgary) GeneDx File Name: Gilfix-Lab Send Out List_Revised Updated Page 1 of 30

2 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Alpha-Subunit Pituitary Tumor Marker Alternate name: Alpha Glycoprotein Subunit Red top Aminolevulinic acid dehydratase Aminolevulinic Acid Dehydratase Deficiency Porphyria (612740) Green Top, 4 C only Amphiphysin Antdiuretic Hormome Anticorps anti-21 hydroxylase Anti-Enterocyte Antibody Paraneoplastic Disease Profile autoimmume adrenal failure Plasma (EDTA); handle at 4 C; freeze plasma in plastic container ; store serum at -20 C Anti-HMGCR statin-related myopathy Serum Mitogen Advanced Hopital Sacre-Coeur, QC CHUM The Children's Hospital of Philadelphia Mitogen Advanced Anti-myelin associated glycoproteins (anti-mag) WB Mitogen Advanced Anti-p140/p155/TRIM28 Paraneoplastic Disease Profile Mitogen Advanced Anti-RNA pol I/III Mitogen Advanced Autoimmune Inflammatory Myopathy/Myositis Profile Jo-1, Mi2, PL7, PL12, Pm/Scl75, PM/Scl100, Ku, SRP, Ro52, EJ, OJ Mitogen Advanced File Name: Gilfix-Lab Send Out List_Revised Updated Page 2 of 30

3 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Autoimmune Neurological Diseases Profile GM1 (IgG,IgM), GM2, GD1a, GT1b (IgG,IgM), GM3 (IgG, IgM), GQ1b (IgG,IgM), GD1b (IgG,IgM) Mitogen Advanced Autoimmune Paraneoplastic Diseases Profile encephalomyelitis) (paraneoplastic ataxia, Amphiphysin, Ri, Yo. Hu, PNMA2 (Ma2/Ta), CV2/CRMP-5, Recoverin, SOX1, tintin ; CSF Mitogen Advanced Autoimmune polyendocrinopathy syndrome, type I (240300) AIRE Autosomal dominant lateral temporal lobe epilepsy (Epilepsy, familial temporal lobe, 1) (600512) AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY SANGER SEQUENCING PANEL (253600; ;254130;607155;611307; ; ; ; ; ; ; ) LGI SGCD (601411); TRIM32 (602290); SGCG (608896); CAPN3 (114240); DYSF (603009); FKFP (606596); SGCA (60119); SGCB (600900); TTN (188840); TCAP (604488); ANO5 (608662) Azithromycin TDM Serum gene GeneDx National Jewish Health Laboratories File Name: Gilfix-Lab Send Out List_Revised Updated Page 3 of 30

4 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Baller-Gerold syndrome (218600) RECQL Barium Alternate: Hospitals-In- Common Urine - metal free container gene INSPQ Benign Recurrent Intrahepatic Cholestasis Type 2 (605479) ABCB Cinncinatti Children's Hospital (Division of Human Genetics Diagnostic Laboratories) Bile acids (total) bile salts serum, fasting Hospitals-In-Common Birt-Hogg-Dubé Syndrome (135150) FLCN Alberta Mol Dx Laboratory (Calgary) Birt-Hogg-Dubé Syndrome (135150) FLCN on (MLPA) Alberta Mol Dx Laboratory (Calgary) Breast-Ovarian Cancer, Familial, type 1 (604370) BRCA Mount Sinai Hospital Breast-Ovarian Cancer, Familial, type 2 (612555) BRCA Mount Sinai Hospital Bromide C1q Complement Component. Separate platelet-poor plasma immediately. Freeze as soon as possible. Store and send frozen. If the specimen thaws, it is unsuitable for analysis. Hospitals-In-Common File Name: Gilfix-Lab Send Out List_Revised Updated Page 4 of 30

5 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE C9ORF72 (FTD) DNA Test C9orf CACNA1A Full Gene Sequencing Analysis (MOL033) CACNA1A CACNB4 Full Gene Sequencing Analysis (MOL227) CACNB Amyotrophic lateral sclerosis and/or frontotemporal dementia Familial hemiplegic migraine 1 (141500); episodic ataxia type 2 (108500) Episodic ataxia, type 5 (613855) repeat expansion CADASIL (125310) NOTCH Medical Neurogenetics Medical Neurogenetics London Laboratories Service Group Calpain 3 DNA Sequencing Test CAPN LGMD2A (253600), Calpainopathy Calprotectin random stool CASPR2 Antibody Test Paraneoplastic Disease Red Top or Cathartic Laxatives Profile Mg, Pi Stool CDKN2A (p16) & CDK4 (Exon2) Sequencing CDKN2A; CDK ; CEREBRAL CAVERNOUS MALFORMATIONS VIA THE CCM2 GENE (603284) CEREBRAL CAVERNOUS MALFORMATIONS VIA THE KRIT1/CCM1 GENE CEREBRAL CAVERNOUS MALFORMATIONS VIA THE PDCD10/CCM3 (603285) CCM KRIT PDCD Melanoma, cutaneous malignant, 3 Cerebral calvernous malformations-2 Cerebral calvernous malformations-1 (116860) Cerebral calvernous malformation-3 Cerebrotendinous xanthomatosis (213700) CYP27A gene GeneDx File Name: Gilfix-Lab Send Out List_Revised Updated Page 5 of 30

6 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Charcot-Marie-Tooth disease, type 2A2 (609260) MFN Charcot-Marie-Tooth neuropathy, X-linked dominant (302800) GJB London Health Sciences Centre, Molecular Diagnostic Laboratory Laboratory of Human Genetics (QC) Charcot-Marie-Tooth Type 1A (118220) PMP on Laboratory of Human Genetics (QC) Charcot-Marie-Tooth Type 1A (118220) PMP Charcot-Marie-Tooth Type 1B (118200) MPZ Cholestanol Cerebrotendinous xanthomatosis Chondrosarcoma/Exostoses, multiple, type 1 and 2 EXT1 EXT / CLCN1 DNA Sequencing Test CLCN Myotonia congenita ( and ) Cockayne syndrome ERCC6; ERCC ; COL4A5 Sequencing and Deletion Analysis COL4A Alport syndrome (301050) Colorectal cancer (Li-Fraumeni syndrome) (151623) TP Complete PKD Evaluation PKD1; PKD ; and MLPA and & Alberta Mol Dx Laboratory (Calgary) Alberta Mol Dx Laboratory (Calgary) Kennedy Kreiger Institute (Biochemical Genetics) Molecular GeneticsLlaboratory - BC Children s Hospital & BC Women s Hospital DNA Diagnostic Lab - Boston Children's Hospital Children File Name: Gilfix-Lab Send Out List_Revised Updated Page 6 of 30

7 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Complete Tuberous Sclerosis Evaluation [TSC1 DNA Seq., TSC1 Deletion, TSC2 DNA Seq., TSC2 Deletion] (191100) Cortisol, free Creatine Disorders Panel TSC1; TSC ; GATM (602360); SLC6A8 (300036) Tuberous sclerosis-1 (191100); Tuberous sclerosis-2 (613254) arginine:glycine amidinotransferase deficiency (602360/612718), guanidinoacetate methyltransferase deficiency (601240/612736), creatine transporter (SLC6A8) defect (300036/300352) Red Top or Lavender Top Random urine sequencning and CV2/CRMP-5 Paraneoplastic Disease Profile Mitogen Advanced Cystatin C Serum Hospitals-In-Common Cystic Fibrosis (219700) CFTR & Children Cytochrome P450 2D6 Genotype CYP2D s Dabigratan Serum (Light blue top) Quest File Name: Gilfix-Lab Send Out List_Revised Updated Page 7 of 30

8 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE DARS2 Full Gene Sequencing Analysis (MOL094) DARS Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (611105) Alternate name: DARS2: Mitochondrial AspartyltRNA Synthetase Deficiency Medical Neurogenetics Desmogelein 1 (DSG1) & Desmogelein 3 (DSG3) Pemphigus Red Top Mayo Med Lab Dexamethasone Red Top Dihydrotestosterone Red Top or Gold Top Hospitals-In-Common Diuretic Screen benzthiazide, bumetanide, chlorothiazide, chlorthalidone, furosemide, hydrochlorothiazide, hydroflumethiazide, and metolazone Random urine Duchene and Becker Muscular Dystrophy ( and ) DMD Ehlers-Danlos syndrome, type I COL5A Ehlers-Danlos syndrome, type I and II COL5A & Ehlers-Danlos syndrome, type I and II COL5A Ehlers-Danlos syndrome, type IV (130050) COL3A & Children Connective Tissue Gene Test Connective Tissue Gene Test Connective Tissue Gene Test Connective Tissue Gene Tests File Name: Gilfix-Lab Send Out List_Revised Updated Page 8 of 30

9 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Epidermolysis bullosa (226600) COL7A Epilepsy, generalized, with febrile seizures plus, type 7 (613863) SCN9A Ethambutol TDM Serum gene gene National Jewish Health Laboratories Everolimus TDM Facioscapulohumeral Muscular Dystrophy (158900) DUX4 (D4Z4) FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (158901) VIA THE SMCHD1 GENE SMCHD on Childern's Hospital of Eastern Ontario Familial Hemophagocytic Lymphohistiocytosis (FHL), Autosomal Recessive; type 2 (603553), type 3 (608898), type 4 (603552) and type 5 (613101) PRF1; UNC13D (MUNC13-4); STXBP2; RAB27A; STX ; ; ; ; PRF1 and STX11 also at: Children Cinncinatti Children's Hospital (Division of Human Genetics Diagnostic Laboratories) Familial Limb Girdle Myasthenia Syndroma via the DOK7 gene (254300) DOK Fascioscapulohumeral Muscular Dystrophy 1A (FSHD) (158900) DUX4 (FSHMD1A) Fumarase deficiency (606812) FH fumarate hydratase deletion and haplotype and Childern's Hospital of Eastern Ontario Gabapentin Red Top Hospitals-In-Common Gadolium Random urine GeneDx File Name: Gilfix-Lab Send Out List_Revised Updated Page 9 of 30

10 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Ganglioside (GM1) Antibodies Available as part of profile from Mitogen Advanced ARUP GCK (MODY2) DNA Sequencing and DeletionTest GCK MODY2, Maturity-Onset Diabetes of Young (MODY) (125851) GH-RH Serum or EDTA plasma InterSceince Institute Gitelman syndrome ( ) SLC12A Glucagon ; freeze plasma ASAP Glycogen Storage Disease V (McArdle disease) (232600) PYGM and GQ1b (IgG+IgM) Neurological Disease Profile and Hospitals In Common Emory Molecular Genetics Laboratory Mitogen Advanced Haloperidol Red Top or Green Top Hospitals In Common Hearing Loss: Branchio-Oto-Renal (BOR) Syndrome (115630) EYA Hearing Loss: Non-Syndromic (Connexin 26 & 30) GJB2; GJB ; Hemiplegic Migraine Evaluation CACNA1A; ATP1A2; SCN1A ; ; Familial Hemiplegic Migraine Type I (CACNA1A) DNA Test (141500), Familial Hemiplegic Migraine Type II (ATP1A2) DNA Test (602481), Familial Hemiplegic Migraine Type III (SCN1A) DNA Test (Target Exon Analysis) (609634) and Children Children File Name: Gilfix-Lab Send Out List_Revised Updated Page 10 of 30

11 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Hereditary Breast Ccancer via the CHEK2 Gene (Li-Fraumeni syndrome) (114480) Hereditary Diffuse Gastric Cance (Gastric cancer, familial diffuse, with or without cleft lip and/or palate) (137215) HEREDITARY DIFFUSE GASTRIC CANCER VIA THE CDH1 GENE (137215) CHEK CDH gene CDH Hereditary hemochromatosis, type 1 (235200) HFE Hereditary Hemorrhagic Telangiectasia (HHT), type 1 (187300) and type 2 (600376) ENG; ACVRL1(ALK1) Hereditary Interstitial Kidney Disease (UMOD) DNA Sequencing Test UMOD ; Lavender Familial juvenile hyperuricemic (or gouty) nephropathy (FJHN) (162000) and Medullary cystic kidney disease type II (MCKD2) (603820) gene and Children Histamine ; freeze plasma ASAP Hospitals In Common Histoplasma Antibody Histoplasmosis Red Top Mayo Med Lab Histoplasma Sereology Alberta Provincial Laboratory HLA-B 1502 Genotype, Carbamazepine Hypersensitivity HLA-B Stevens-Johnson syndrome (608579) and toxic epidermal s necrolysis (608579) HNF4A (MODY1) DNA Sequencing and Deletion Test (125850) HNF1A (TCF1) & MLPA File Name: Gilfix-Lab Send Out List_Revised Updated Page 11 of 30

12 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Holoprosencephaly-7 (610828) /Basal cell nevus syndrome (109400) /Gorlin syndrome PTCH HTRA1 DNA Sequencing Test (CARASIL) (600142) HTRA Hyperglycosylated hcg First trimester screen for Down syndrome and trisomy 18 Hyperoxaluria, primary, type 1 (259900) AGXT and and MLPA GeneDx Quest Laboratories s Hypertophic Cardiomyopathy Sequencing Panel (192600) ACTC (ACTC1) (102540), CAV3 (601253), GLA (300644), LAMP2 (309060), MTTG (590035), MTTI (590045), MTTK (590060), MTTQ (590030), MYBPC3 (600958), MYH7 (160760), MYL2 (160781), MYL3 (160790), PRKAG2 (602743), TNNC1 (191040), TNNI3 (191044), TNNT2 (191045), TPM1 (191010), TTR (176300), Next Gen GeneDx File Name: Gilfix-Lab Send Out List_Revised Updated Page 12 of 30

13 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Hypokalemic Periodic Paralysis, type 1 (170400) and type 2 (613345) CACNA1S; SCN4A ; Molecular GeneticsLlaboratory - BC Children s Hospital & BC Women s Hospital IA-2 Autoantibody Test Diabetes, type 1 or Red Top IBD sigi Diagnostic differnetiate among IBD types 2.0 ml Serum (Red Top or SST) and 2.0 ml Whole Blood EDTA / Tube Prometheus Therapeutics & Ibuprofen Red Top ARUP Laboratories IGFBP-1 Not: IGFBP-3 Draw blood in a plain, red-top tube(s). Spin down and separate within one hour. Ship 0.5 ml frozen in a plastic vial. s IGF-II Draw blood in a plain, red-top tube(s). Separate within 1 hour of collection,freeze immediately s Inclusion body myopathy and autospmal recessive, ealrly onset myopathy via the MYH2 gene (605637) MYH Infliximab (Anser IFX) Remicaide or Red Top Quote Prometheus Therapeutics and File Name: Gilfix-Lab Send Out List_Revised Updated Page 13 of 30

14 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation Insulin-Like Growth Factor 1 (IGF-1) INF2; TRPC6; NPHS2;ACTN ; ; ; Glomerulosclerosis, focal segmental, 5 (613237); Glomerulosclerosis, focal segmental, 2 (603965); Nephrotic syndrome, type 2 ( );Glomerulosclero sis, focal segmental, 1 (603278) Integrin alpha 9 ITGA not available Red top Royal Victoria Hospital Interferon Beta Neutralizing Antibodies In MS Patient Treated With IFN Neuro-Immunology Laboratories (UBC) Interleukin-2 JAG1 Gene Sequencing & Del/Dup JAG Alagille syndrome (118450) Draw sufficient blood in a plain, red-top tube(s). Spin down and pour off into a plastic, screw-capped tube. Freeze immediately. s GeneDx Jaundice Chip multiple genes gene chip Cinncinatti Children's Hospital (Division of Human Genetics Diagnostic Laboratories) Joubert and Meckel-Gruber Syndromes via the CC2D2A gene CC2D2A Joubert syndrome 9 File Name: Gilfix-Lab Send Out List_Revised Updated Page 14 of 30

15 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE JUNCTIONAL EPIDERMOLYSIS BULLOSA (JEB) SANGER panel LAMC2; LAMA3; LAMB3; COL17A ; ; ; Juvenile Polyposis Syndrome ( and ) BMPR1A Juvenile Polyposis Syndrome ( and ) BMPR1A; SMAD ; Tier 2: Tier 1: & GeneDx GeneDx Juvenile Polyposis Syndrome ( and ) BMPR1A; SMAD ; Tier 3: GeneDx Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome/juvenile polyposis syndrome, infantile form KCNA1 Full Gene Sequencing Analysis (MOL064) KCNA SMAD4; BMPR1A ; Episodic ataxia/myokymia syndrome Tier 1: sequecning and GeneDx Medical Neurogenetics LAMINOPATHIES VIA THE LMNA GENE LMNA Charcot-Marie-Tooth Disease Type 2B1 (605588); Limb-Girdle Muscular Dystrophy, Type 1B (159001); Lipodystrophy, Familial Partial, Dunnigan Type (151660); Dilated Cardiomyopathy 1A (115200); Emery- Dreifuss Muscular Dystrophy, Autosomal Dominan (151350)t; Restrictive Dermopathy, Lethal (275210); Hutchinson-Gilford Syndrome (176670) File Name: Gilfix-Lab Send Out List_Revised Updated Page 15 of 30

16 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Lebers hereditary optic neuropathy (LHON) (535000) LEMS (anti-vgcc) Antibody Test Lambert-Eaton Myasthenic syndrome Red Top Leukemia, Philadelphia chromosome-positive, resistant to imatinib ABL Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (611105) Levetiracetam LHON mtdna Evaluation LIMB GIRDLE MUSCULAR DYSTROPHY, TYPE 2L (LGMD2L)(611307) AND DISTAL MIYOSHI MYOPATHY (MMD3) (613319) VIA THE ANO5 GENE DARS Leber's hereditary optic neuropathy (535000); multiple mitochondrial genes involved ; transport on ice ANO Loeys-Dietz syndrome ( and ) TGFBR Loeys-Dietz syndrome ( and ) TGFBR Targeted mutation analysis gene gene London Health Sciences Centre, Molecular Diagnostic Laboratory University Health Network (Toronto General Hospital) Hopital Ste. Justine File Name: Gilfix-Lab Send Out List_Revised Updated Page 16 of 30

17 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Long QT Syndrome (LQTS) Sequencing and Gene Duplication Panel (192500) AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1 TBC 1. Exon Array CGH, Next-gen Sequencing 2. Known mutation (specify mutation) GeneDx MAG 'Dual Antigen' Autoantibody Test Anti-MAG neuropathy, Anti-SGPG neuropathy Red Top Malignant hyperthermia susceptibility 1 (145600) RYR MAPT DNA Sequencing Test MAPT Frontotemporal Dementia (600274) Marfan syndrome, type I (154700) FBN Melnick-Needles Syndrome (309350) FLNA Motor Neuropathy Profile - Complete Co-GM1 Quattro, MAG 'Dual Antigen' Autoantibody Test, NS6S Antibody Test Red Top or Multiple Endocrine Neoplasia type 1 (131100) MEN & & University Health Network (Toronto General Hospital) Connective Tissue Gene Tests Emory Genetics Laboratory Alberta Mol Dx Laboratory (Calgary) Multiple Endocrine Neoplasia type 1 (131100) MEN (MLPA) Multiple endocrine neoplasia, type IV (610755) CDKN1B Alberta Mol Dx Laboratory (Calgary) File Name: Gilfix-Lab Send Out List_Revised Updated Page 17 of 30

18 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Muscular dystrophy, limb-girdle, type 2B (253601) DYSF gene MuSK Quantitative Titres Antibody Test (Muscular Dystrophy) Red Top MVista Blastomyces dermatitidis Quantitative Antigen EIA blastomycosis antigen Minimum 0.5 ml for urine and BALF, 1.0 ml for other body fluids MiraVista MVista Histoplasma capsulatum Quantitive Antigen EIA Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myelin Associated Glycoprotein (MAG) Antibody, IgM Myocardial Antibodies Minimum 0.5 ml for urine and BALF, 1.0 ml for other body fluids. MiraVista RAPSN Available as part of profile from Mitogen Advanced inflammatory cardiomyopathy Red Top ARUP Mayo Med Lab MYOFIBRILLAR MYOPATHY SANGER SEQUENCING PANEL CRYAB (123590); DES (125660); FLNC (102565); LDB3 (605906); MYOT (604103); BAG3 (603883) Myofibrillar Myopathy, ZASP-Related (609452); Myotilinopathy (609200); Myofibrillar Myopathy, Desmin- Related (601419); Alpha- B Crystallinopathy (608810); Myofibrillar Myopathy, Filamin C- Related (609524); Myofibrillar Myopathy, BAG3-Related (612954) File Name: Gilfix-Lab Send Out List_Revised Updated Page 18 of 30

19 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE myopathy, congenital via the TPM3 gene TPM Nemaline myopathy 1, autosomal dominant (609284) and Congenital fiber type disproportion (255310) Myotonic muscular dystrophy, type 2 (602668) ZNF repeat expansion N-Acetylprocainamide Natural Killer (NK) Cell Cytotoxicity Assay Therapeutic: 22-72; Toxic: > 90 µmol/l hemophagocytic lymphohistiocytosis (HLH) Childern's Hospital of Eastern Ontario Red Top; FPIA Integra Hospitals-In-Common Children (Rapid Response Laboratory) Natural Killer (NK) Cell Degranulation Assay hemophagocytic lymphohistiocytosis (HLH) Children (Rapid Response Laboratory) Nemaline myopathy 1, autosomal dominant (609284) TPM3 (NEM1) Sequence analysis of the entire coding region and Deletion/duplicat ion analysis Emory Molecular Genetics Laboratory Neurofibromatosis Type 2 (NF2) Evaluation (101000) NF Neurofibromatosis Type I (NF1) Evaluation (162200) NF and and Neuromyelitis Optica Antibody (IgG) NMO-IgG; aquaporin 4 Red Top Hospitals-In-Common Neuron-specific enolase tumor marker Red Top, refrigerated Niemann-Pick Disease Type C via the NPC2 Gene (607625) NPC File Name: Gilfix-Lab Send Out List_Revised Updated Page 19 of 30

20 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Niemann-Pick diseasetype C via the NPC1 gene (257220) NPC NMDA (NR1) Receptor Antibodies Encelphalitis, CSF Mitogen Advanced N-Methylhistamine Urine, random or 24-h s Oculopharyngeal Muscular Dystrophy (164300) PABPN repeat expansion Oculophyaryngeal Muscular Dystrophy PABPN repeat sizing Childern's Hospital of Eastern Ontario Molecular GeneticsLlaboratory - BC Children s Hospital & BC Women s Hospital Oncotype DX FFPE gene expression Genomic Health Optic atrophy 3 (165300) OPA Optic Atrophy Evaluation (OPA1) OPA Optic atrophy I (165500) OPA gene Optic atrophy I (165500) OPA Osteogenesis imperfecta, type 1, 2, 3 & 4 COL1A1; COL1A ; Ovarian Dysgenesis via the FSHR gene (233300) FSHR Oxalate, Plasma Ovarian dysgenesis 1 (233300) Green Top; sample must be acidifired PALB2-Related cancer (114480) PALB and Emory Genetics Laboratory Emory Genetics Laboratory Connective Tissue Gene Test s Ambry Genetics File Name: Gilfix-Lab Send Out List_Revised Updated Page 20 of 30

21 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Pancreatic Polypeptide Plasma EDTA, fasting, handle 4 C Paraglioma SDHB SDHC SDHD s Alberta Mol Dx Laboratory (Calgary) Paraglioma SDHB Paraglioma SDHC Paraglioma SDHD Paramyotonia Congenita (168300) SCN4A Pelizaeus-Merzbacher disease and spastic paraplegia 2 ( and ) PLP Pepsinogen I Perforin PRF Perforin protein expression hemophagocytic lymphohistiocytosis (HLH), familial 2 (603553) hemophagocytic lymphohistiocytosis (HLH) (603553) Red Top or or Lavender (EDTA) Alberta Mol Dx Laboratory (Calgary) Alberta Mol Dx Laboratory (Calgary) Alberta Mol Dx Laboratory (Calgary) London Laboratories Service Group s Children (Rapid Response Laboratory) Children (Rapid Response Laboratory) Perforin/granzyme B Protein Expression primary hemophagocytic lymphohistiocytosis (HLH) TBD Cinncinatti Children's Hospital (Diagnostic Immunology Laboratories ) File Name: Gilfix-Lab Send Out List_Revised Updated Page 21 of 30

22 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Periodic Fevers Syndromes MEFV; TNFRSF1A; MVK ; ; Familial Mediterranean Fever (FMF) ( and ); TNF receptor-associated periodic syndrome (TRAPS (142680); Hyperimmunoglobulin D Syndrome (HIDS) (260920) Molecular GeneticsLlaboratory - BC Children s Hospital & BC Women s Hospital PNMA2 (Ma2/Ta) Paraneoplastic Disease Profile Pompe Disease (Glycogen storage disease II) (232300) GAA Porencephaly 1(175780) COL4A Porphobilinogen Deaminase Porphyrins Evaluation, Whole Blood Acute Intermittent Porphyria (176000) erythropoietic protoporphyria (177000) and congenital erythropoietic porphyria (163700) Green Top, 2 ml, 4 C only Green Top (heparin), fasting, handle 4 C. Must arrive within 3 days of drawing. Alternate: washed erthyrocytes gene Mitogen Advanced CHEO s Porphyrins, Total, plasma Porphyria cutanea tarda Green top (heparin); protect from light; transfer to amber vial s PROGRESSIVE BULBAR PALSY WITH OR WITHOUT SENSORINEURAL DEAFNESS [BROWN-VIALETTO-VAN LAERE SYNDROME (211530) AND FAZIO-LONDE DISEASE (211500)] VIA THE SLC52A3 (C20ORF54) SLC52A Not aavailable: SLC52A2 (607882) and SLC52A1 (607883) File Name: Gilfix-Lab Send Out List_Revised Updated Page 22 of 30

23 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Progressive external ophthalmoplegia (CPEO) (530000) POLG Kearns-Sayre syndrome GeneDx Progressive Familial Intrahepatic Cholestasis Type 1 (211600) ATP8B Cinncinatti Children's Hospital (Division of Human Genetics Diagnostic Laboratories) Proinsulin, Plasma Plasma (EDTA) s PTEN hamartoma tumor syndrome PTEN & GeneDx Q Fever Antibody Red Top RAPSYN-related disorders via the RAPSN gene (466) RAPSN Congenital myasthenic syndromes (608931); Fetal Akinesia Deformation Sequence (208150) Recombx Zic4 Antibody Test paraneoplastic syndrome Red Top Recoverin Paraneoplastic Disease Profile Retinoblastoma (180200) RB Retinol Binding Protein Rifabutin Red-top tube(s) or a serum gel tube or urine Serum Mitogen Advanced Children Quest /Nichols Institute National Jewish Health Laboratories File Name: Gilfix-Lab Send Out List_Revised Updated Page 23 of 30

24 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE SAP (XLP1) Protein expression SH2D1A X-linked lymphoproliferative syndrome (XLP1) (308240) TBD Cinncinatti Children's Hospital (Diagnostic Immunology Laboratories ) SCA3/Machado Joseph disease (109150) ATNX SCA Panel available North York General Secretin EDTA plasma containing the G.I. Preservative Freeze InterScience Institute immediately Selenoprotein N, 1 via the SEPN1 gene SEPN Muscular dystrophy, rigid spine, 1 (602771) SH3TC2 DNA Sequencing Test SH3TC SLC40A1-Related Hereditary Hemochromatosis (606069) SLC40A Charcot-Marie-Tooth disease, type 4C (601596) ferroportin; Hereditary Hemochromatosis type IV (606069) gene Small Fiber Painful Axonal Neuropathy Profile Peripheral Neuropathy; Detection of anti-hu antibodies using recombinant human antigens, anti-sulfatide antibodies and mutations in the transthyretin gene Red Top AND Small Fibre Painful Axonal Neuropathy Profile peripheral neuropathy: anti-hu, anti-sulfatide, & TTR Red Top AND Soluble CD 163 hemophagocytic lymphohistiocytosis (HLH) Children (Rapid Response Laboratory) File Name: Gilfix-Lab Send Out List_Revised Updated Page 24 of 30

25 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Soluble IL-2 Receptor (CD25) Somatostatin (Somatotropin Release-Inhibiting Factor, SRIF) hemophagocytic lymphohistiocytosis (HLH) EDTA plasma containing the G.I. Preservative. Freze immediately. Spastic ataxia, Charlevoix-Saguenay type (270550) SACS Spastic paraplegia 11, autosomal recessive SPG Spastic paraplegia 11/Spastic ataxia, Charlevoix-Saguenay type /Spastic paraplegia 5A, autosomal recessive SPG11; SACS; CYP7B ; ; AR Hereditary Spastic Paraplegia panel A Spastic paraplegia 3A, autosomal dominant (182600) ATL Spastic paraplegia 4, autosomal dominant (182601) SPAST Spastic paraplegia 7, autosomal recessive SPG Spermatogenic Failure-6 (102530) PGF6 (SPATA16) Panel A; and gene gene Panel B; and gene Children (Rapid Response Laboratory) InterScience Institute Children Children Children Children File Name: Gilfix-Lab Send Out List_Revised Updated Page 25 of 30

26 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Spermatogenic Failure-9 (613958) DPY19L gene Spinal and bulbar muscular atrophy of Kennedy (313200) AR Repeat analysis Children Spinocerebellar Ataxia (SCA) Panel (1,2,3,6,7,8,17) North York General Spinocerebellar ataxia 1 (601556) ATXN SCA Panel available North York General Spinocerebellar ataxia 11 (604432) TTBK gene Spinocerebellar ataxia 17 (607136) TBP SCA Panel available North York General Spinocerebellar ataxia 2 (183090) ATXN SCA Panel available North York General Spinocerebellar ataxia 6 (183086) CACNA1A SCA Panel available triplet expansion North York General Spinocerebellar ataxia 6 (183086) CACNA1A SCA Panel available triplet expansion North York General Spinocerebellar ataxia 7 (607640) ATXN SCA Panel available Spinocerebellar ataxia 8 (608768) ATXN SCA Panel available Spinocerebellar ataxia type 27 (609307) FGF gene North York General North York General File Name: Gilfix-Lab Send Out List_Revised Updated Page 26 of 30

27 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Spinocerebellar ataxia, autosomal recessive-8 (French Canadain mutation sequecning panel) SYNE Autosomal recessive cerebellar ataxia 1 (ARCA1; OMIM ) Stickler syndrome, type 1 (609508); Legg-Calve-Perthes disease (150600) COL2A STK11 Gene Sequencing & Del/Dup STK Peutz-Jeghers syndrome (175200) and Connective Tissue Gene Test GeneDx Syntaxin 11 STX hemophagocytic lymphohistiocytosis (HLH) (603552) Children (Rapid Response Laboratory) Systemic Sclerosis (Scleroderma) Profile Mitogen Advanced T3 (Triiodothyronine), Total T4 (Thyroxine), Free Red top TCF1 (MODY3) DNA Sequencing and Deletion Test HNF1 (TCF1) MODY3, Maturity-Onset Diabetes of Young (MODY) (600496) Titanium ; transfer to plastic container Hospitals-In-Common Topiramate File Name: Gilfix-Lab Send Out List_Revised Updated Page 27 of 30 Red Top or Green Top or ; not SST Torsion Dystonia, Autosomal Dominant (128100) DYT Transthyretin amyloidosis (105210) TTR Targeted Mutation Analysis, Detects c.907_909delga G Hospitals-In-Common Alberta Mol Dx Laboratory (Calgary) Molecular GeneticsLlaboratory - BC Children s Hospital & BC Women s Hospital

28 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Trifluoperazine (stelazine) Drug Screen, Prescription/OTC Random urine Trimethylamine (TMA) and TMA N-oxide (TMAO), Quantitative, Urine trimethylaminuria Morning void urine. Freeze immediately. Denver Genetics Laboratory Trypsinogen serum Hospitals-In-Common Type 6 Collagenopathy via the COL6A1 gene COL6A Type VI Collagenopathy Sequencing Panel UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing, Hyperbilirubinemia COL6A1, COL6A2, COL6A ; ; UGT1A UDP-Glucuronosyl Transferase 1A1 TA Repeat Genotype UGT1A Uroporphyrinogen Decarboxylase VALOSIN-CONTAINING PROTEIN-RELATED DISORDERS VIA THE VCP GENE VCP Ullrich congenital muscular dystrophy (254090) and Bethlem myopathy (158810) Ullrich congenital muscular dystrophy (254090) and Bethlem myopathy (158810) diagnosis of Gilbert (143500) or Crigler- Najjar syndromes ( and ) irinotecan sensitivity; diagnosis of Gilbert syndrome (143500) Porphyria Cutanea Tarda (176100) Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (167320) Green top, 2 ml, 4 C only Valproic acid - free serum (not SST) Hospitals-In-Common Vascular Endothelial Growth Factor (VEGF) Lavender-top (EDTA) tube Quest /Nichols Institute File Name: Gilfix-Lab Send Out List_Revised Updated Page 28 of 30

29 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Vasoactive Intestinal Polypeptide (VIP) ; fasting; spin down & transfre to plastic vial; freeze immediately VGKC antibodies Paraneoplastic Disease Mitogen Advanced Vitamin B1 Vitamin B2 Vitamin B3 Vitamin B6 thiamin; to assess body stores riboflavin niacin (nictonic acid) pyridoxine Whole Blood (EDTA); not SST; protect from light; fasting Green Top; transfer to amber container; protect from light Plasma (EDTA); not SST; transfer to amber container; protect from light Plasma (EDTA or Li heparin); not SST; protect from light von Hippel-Lindau syndrome (193300) VHL von Willebrand disease (193400) VWF and Sequence analysis of select exons Hospitals-In-Common Hospitals-In-Common Alberta Mol Dx Laboratory (Calgary) ARUP Laboratories File Name: Gilfix-Lab Send Out List_Revised Updated Page 29 of 30

30 APPELATION APPROUVÉE DE OU DE LA MALADIE ASSOCIÉE Warburg Micro Syndrome (600118) RAB3GAP Also available: 1. Warburg Micro syndrome Sequencing panel (RAB3GAP1, RAB3GAP2 and RAB18 ) 2. Warburg Micro syndrome Deletion/Duplication panel (RAB3GAP1, RAB3GAP2 and RAB18 del/dup) Wilson Disease (277900) ATP7B Wolfram syndrome (222300) WFS X-linked Adrenoleukodystrophy (300100) ABCD Part of NGS panel: Combined Mito Genome Plus Mito 140 Nuclear Gene Panel (615) and University of Chicago Genetic Services Laboratories GeneDx Emory Molecular Genetics Laboratory File Name: Gilfix-Lab Send Out List_Revised Updated Page 30 of 30