سندرم حذفی 1p36 (1p36 deletion syndrome)

(hereditary neuropathy with liability to pressure palsies) نوروپاتي ارثي مستعد فلج فشاري

(juvenile myelomonocytic leukemia (JMML

(Maroteaux-Lamy (MPS-VI

(Metachromatic leukodystrophy) لوکودیستروفی متاکروماتیک

(mitochondrial encephalopathy lactic acidosis and stroke-like episodes)سندروم آنسفالوپاتی ميتوکندريایی همراه با اسيدوز لاکتيک و حملات شبيه سکته مغزی

(Mitochondrial non- Syndromic deafness)ناشنوایی غیر سندرمی میتوکندریایی

(Myoclonic epilepsy with ragged-red fibers)بیماری صرع میوکلونیک و فیبر خشن – قرمز

(Neurogenic muscle weakness ataxia and retinitis pigmentosa)ضعف عضلانی نوروژنیک آتاکسی ونارسایی پیگمنتوزا

(Pompe Disease (GSD-II

(Rett Syndrome) سندرم رت

(Spinocerebellar ataxia) آتاکسی نخاعی مخچه ای

(Tyrosinemia (type I

(Tyrosinemia (type I تیروزنمیا نوع 1

(Tyrosinemia (type II تیروزنمیا نوع 2

(Tyrosinemia (type III

(Tyrosinemia (type III تیروزنمیا نوع 3

15q24 deletion syndrome

1p36 deletion syndrome

21‐Hydroxylase‐Deficient Congenital Adrenal Hyperplasia

22q13 / Phelan-McDermid

3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency

3‐Methyl crotonyl‐CoA carboxylase deficiency

3‐Methylglutaconic Aciduria

Acetyl‐CoA Carboxylase Deficiency

Achondroplasia اکندروپلازی

Achromatopsia

Acyl‐CoA Dehydrogenase Deficiency

Age‐related macular degeneration

Aicardi‐Goutières Syndrome

Alagille Syndrome

Albinism

ALCL, T-/B-cell lymphomas

Alkaptonuria

ALL

Allan‐Herndon‐Dudley syndrome

Alpers‐Huttenlocher Syndrome

Alpha thalassemia

Alpha‐1‐Antitrypsin Deficiency

Alport Syndrome and Thin Basement Membrane Nephropathy

Alzheimer’s disease

Aminoglycose‐induced nonsyndromic deafness

AML

AML, ALL

AML, ALL, CML

AMMOL

Androgen Insensitivity Syndrome

Aniridia

Apert syndrome

APL

Arginase Deficiency

Argininosuccinate Lyase Deficiency

Arrhythmogenic Right Ventricular Cardiomyopathy / ARVC

Arts Syndrome

Aspartylglycosaminuria

Ataxia with oculomotor apraxia type 1

Ataxia with Vitamin E Deficiency

Ataxia, Myoclonus and Deafness

Ataxia‐Telangiectasia

Autosomal Dominant Hyper IgE Syndrome

Autosomal Recessive Cutis Laxa

Autosomal Recessive Progressive external ophthalmoplegia

Autosomal recessive spastic ataxia of Charlevoix‐Saguenay

Baller‐Gerold Syndrome

Bardet‐Biedl syndrome

Bernard-Soulier برنارد سولیر

beta thalassemia

Beta‐ketothiolase deficiency

Beta‐ketothiolase Deficiency

BH4

Bietti crystalline corneoretinal dystrophy

Biotinidase Deficiency

Birt‐Hogg‐Dubé Syndrome

bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma

Bloom Syndrome

Branchio‐Oculo‐Facial Syndrome

Breast cancer

Breast cancer & ovarian cancer (2 genes)

Breast cancer & ovarian cancer (21 genes)

Breast Cancer, Colorectal Cancer

Brugada syndrome

Bulbus oculi disease

Caffey Disease

Canavan Disease

Capillary malformationarteriovenous malformation syndrome

Carbamoyl phosphate synthetase I deficiency

Cardiac conductive disease/CCD

Carney Complex

Carnitine Palmitoyltransferase Deficiency

Carnitine‐acylcarnitine translocase deficiency

Cartilage‐hair Hypoplasia

Catecholaminergic Polymorphic Ventricular Tachycardia/CPVT

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Cerebrotendinous Xanthomatosis

CFTR‐Related Hereditary Pancreatitis

Charcot‐Marie‐Tooth Disease, HMSN

Chediak‐Higashi Syndrome

Chondrosarcoma (2 genes)

Chorea‐Acanthocytosis

Choriodal dystrophy, central areolar 2

Chronic Granulomatous Disease

Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia

Citrullinemia

CLCN7‐Related Osteopetrosis

CML

CML & CLL

CML-BC, AML, MDS

CML/ALL MRD monitoring

CMML, MDS

Cobalamin Metabolism Disorders

Cockayne Syndrome

Coenzyme Q10 Deficiency

Cohen Syndrome

colorectal cancer

Colorectal cancer (14 genes)

Combined Oxidative Phosphorylation Deficiency

Cone ‐rod dystrophy

Congenita Myotonia

Congenital Amegakaryocytic Thrombocytopenia

Congenital disorder of glycosylation type Ia

Congenital Fibrosis Of Extraocular Muscles

Congenital Generalized Lipodystrophy

congenital generalized lipodystrophy(CGL)/Berardinelli‐ Seip syndrome

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

Congenital hyperinsulinism(CHI)

Congenital Myasthenic Syndromes

Congenital stationary night blindness

Corneal dystrophy

Corpusvitreum disease

Costello Syndrome

Cowden‐like Syndrome

Creatine Deficiency Syndromes

Cri du Chat syndrome

Crigler‐Najjar Syndrome

Crouzon Syndrome

Cyclic Vomiting Syndrome

Cystic Fibrosis

Cystinosis

de Morsier Syndrome

Delta/beta-thalassemia دلتا-بتا تالاسمی

Dementia and Chorea

Diamond‐Blackfan Anemia

DiGeorge syndrome

Dihydropyrimidine Dehydrogenase Deficiency

Dilated cardiomyopathy / DCM

Dilated Cardiomyopathy with Cardiac Conduction Defect / DCM + CCD

Disorders of Lipoprotein Metabolism

Disorders of Metal Metabolism

Disorders of protein Metabolism

Dravet syndrome

Duchenne & Becker muscular dystrophy

Dyskeratosis Congenita

Dystonia

Ehlers‐Danlos Syndrome

Endometrial cancer (5 genes)

Eosinophilia

Epidermolysis Bullosa

Epileptic encephalopathy early infantile

Episodic Ataxia

Establishing or confirming the clinical diagnosis of HH in adults

Ethylmalonic Aciduria

Fabry disease

Factor 10 deficiency نقص فاکتور 10

Factor 11 deficiency نقص فاکتور 11

Factor 12 deficiency نقص فاکتور 12

Factor 13 deficiency نقص فاکتور 13

Factor 5 deficiency نقص فاکتور 5

Factor 7 deficiencyنقص فاکتور 7

Factor V Leiden Thrombophilia

Familial adenomatous polyposis

Familial Amyotrophic Lateral Sclerosis

Familial Bilateral Striatal Necrosis

Familial Isolated Pituitary Adenomas

Familial Lipoprotein Lipase Deficiency

Familial Mediterranean Fever

Familial paraganglioma (5 genes)

Fanconi anemia

Fanconi‐Bickel syndrome

Female Hereditary Cancer Panel (49 genes, 16 cancers)

FGFR‐Related Craniosynostosis Syndromes

Fibrinogenemia

Fibrinogenemia فیبرینوژنمیا

Focal dermal hypoplasia

Focal Segmental Glomerulosclerosis

fragile X syndrome

Frontotemporal dementia

Fumaric Aciduria

Fundus albipunctatus

Fundus flavimaculatus

Galactosemia

Gangliosidosis

Gastric cancer (6 genes)

Gaucher Disease

Genetic Prion Diseases

Genetic testing for Age related macular degeneration

Genetic Testing for Nonsyndromic Hearing Impairment

Genetic Testing for Syndromic Hearing Impairment

Giant Axonal Neuropathy

Gilbert Syndrome

Glanzmann گلاینزمن

Glucose‐6‐Phosphate Dehydrogenase Deficiency

Glutaric acidemia

Glutaric Aciduria

Glycine Encephalopathy

Glycogen storage disease type II

Glycogen Storage Disease(Mitochondrial Diseases)

Glycogen storage diseases

GNE‐Related Myopathy

GRACILE Syndrome

GTP Cyclohydrolase 1‐Deficient Dopa‐Responsive Dystonia

Gyrate atrophy of choroid and retina with or without ornithinemia

Haemochromatosis

Harlequin ichthyosis

Hearing Impairment: AD /AR /X‐Linked

Hemophilia

Hemophilia A

Hemophilia B

Hepatopathy and ketoacidosis

Hereditary ataxias

Hereditary Fructose Intolerance

Hereditary Hemochromatosis

Hereditary Hemorrhagic Telangiectasia

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Hereditary Muscular Diseases

Hereditary Muscular Dystrophies (including Limb‐Girdle Muscular Dystrophy)

Hereditary Myopathies

Hereditary Paraganglioma‐ Pheochromocytoma Syndromes

Hereditary peripheral nervous system disorders

Hereditary Spastic Paraplegia

Hermansky‐Pudlak Syndrome

Hidrotic Ectodermal Dysplasia 2

Histidinemia

Homocystinuria

HUPRA Syndrome

Hyperkalemic Periodic Paralysis Type 1

Hypermethioninemia

Hyperornithinemia‐ Hyperammonemia‐ Homocitrullinuria Syndrome

Hyperprolinemia

Hypertrophic cardiomyopathy / HCM

Hypohidrotic Ectodermal Dysplasia

Hypokalemic Periodic Paralysis

Ichthyosis and Ichthyosiform Erythroderma

Ichthyosis Lamellar ایکتیوز لامیلار

Ichthyosis Vulgaris

Idiopathic Hypogonadotropic Hypogonadism

immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome（IPEX syndrome）

Inclusion Body Myopathy with Paget Disease of Bone & Frontotemporal Dementia

Infantile Myopathy and Lactic Acidosis

Infantile Spinal Muscular Atrophy

Inherited metabolic diseases (muscular, nervous systemrelated)

Isovaleric acidemia

Joubert syndrome

Kallmann Syndrome

Kearns‐Sayre Syndrome

Keratosis Palmoplantaris Striata

Krabbe Disease

Lactic Acidosis

Lafora Disease

Lamellar Ichthyosis

Langer-Giedion syndrome

Leber congenital amaurosis

Leber Hereditary Optic Neuropathy

Left Ventricular Non‐ Compaction/LVNC

Leigh Syndrome

Leukodystrophy and renal tubulopathy

Loeys‐Dietz Syndrome

Long QT Syndrome

Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

Lymphedema‐Distichiasis Syndrome

Lymphoma

Lysosomal Storage Disorders

Macular dystrophy

Male hereditary Cancer panel (41 genes, 15 cancers)

Malonyl‐CoA decarboxylase deficiency

Mandibuloacral dysplasia with type A lipodystrophy (MADA)

Maple Syrup Urine Disease

Marfan Syndrome

Maternally inherited diabetes and deafness

Maturity‐onset Diabetes of the Young (MODY)

MDS, AML

MECP2 duplication syndrome

MECP2‐Related Severe Neonatal Encephalopathy

Medium‐Chain Acyl‐CoA Dehydrogenase Deficiency

Melanoma (2 genes)

Menkes Disease

Metachromatic leukodystrophy due to Arylsulfatase A

Metachtomatic Leukodystrophy

Methylmalonic Acidemia

Methylmalonic Aciduria

Microphthalmia

Miller-Dieker syndrome

Mitochondrial Cardiomyopathy

Mitochondrial Diabetes Mellitus

Mitochondrial DNA Depletion Syndrome

Mitochondrial encephamyopathy, lactic acidosis, and stroke‐like symptom

Mitochondrial Myopathy

Mitochondrial myopathy and sideroblastic anemia

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial Optic Atrophy

Mitochondrial Phosphate Carrier Deficiency

Mitochondrial Respiratory Chain Complex I Deficiency

Mitochondrial Respiratory Chain Complex II Deficiency

Mitochondrial Respiratory Chain Complex III Deficiency

Mitochondrial Respiratory Chain Complex IV Deficiency

Mitochondrial Respiratory Chain Complex V Deficiency

Mitochondrial Super‐Complex Deficiency

Mohr‐Tranebjaerg Syndrome

Mohr‐Tranebjaerg Syndrome

Mowat‐Wilson Syndrome

MPD PV, ,ET, PMF

MPS-I

MPS-II

MPS-IIIA

MPS-IIIB

MPS-IIIC

MPS-IV

Mucopolysaccharidosis

Multiple Cutaneous and Mucosal Venous Malformations

Multiple Endocrine Neoplasia

Multiple endocrine neoplasia (3 genes)

Multiple Epiphyseal Dysplasia (Recessive, Dominant)

Multiple Lentigines Syndrome

Muscular Disease

Myoclonic Epilepsy and Psychomotor Regression

Myoclonic epilepsy and raggedred fiber disease

Myoclonic epilepsy myopathy sensory ataxia

Myoclonus‐Dystonia

Myoglobinuria

Nail‐Patella Syndrome

Neurocutaneous syndrome

Neuroferritinopathy

Neurofibromatosis

Neurofibromatosis (2 genes)

Neurofibromatosis, Type I

Neurofibromatosis, Type II

Neurogenic muscle weakness ataxia and retinitis pigmentosa

Neuronal Ceroid‐Lipofuscinoses

Neutropenia

Nevoid Basal Cell Carcinoma Syndrome

NF1 microdeletion syndrome

Niemann-Pick disease type A and B

Niemann-Pick disease type C

Niemann‐Pick Disease

Niemann‐Pick Disease

Nonarteritic Anterior Ischemic Optic Neuropathy

Nonsyndromic Hearing Impairment

Nonsyndromic Hearing Loss

Noonan syndrome

Nystagmus

Ocular albinism

Oculocutaneous albinism

Optic Atrophy

Oral‐Facial‐Digital Syndrome

Organic Acidemias

Ornithine Aminotransferase Deficiency

Ornithine Transcarbamylase Deficiency

Osteogenesis imperfecta

Other hemoglobinopathies like HbC, HbE, HbD/S, etc

Pachyonychia Congenita

Pallister‐Hall Syndrome

Pancreatic cancer (2 genes)

Pantothenate Kinase‐Associated Neurodegeneration

Parathyroid carcinoma (2 genes)

Parkinson’s disease

Pelizaeus‐Merzbacher Disease

Permanent Neonatal Diabetes Mellitus (PNDM)

Peroxisomal Disorders

Peroxisome Biogenesis Disorders (Zellweger Syndrome Spectrum)

Perrault Syndrome

Peutz‐Jeghers syndrome

Phenylketonuria

Pheochromocytoma (9 genes)

Polycystic Kidney Disease, AD

Polycystic Kidney Disease, AR

Prader-Willi / Angelman syndrome

Primary Carnitine Deficiency

Primary Hyperoxaluria Type 2

Progressive Encephalopathy

Progressive External Ophthalmoplegia

Progressive familial intrahepatic cholestasis

Propionic Acidemia

Prostate cancer (3 genes)

Proteus Syndrome

Prothrombinemia

Prothrombinemia پروترومبنیمیا

Protoporphyria

Pseudoachondroplasia

PTE & DVT & CVD

Pyridoxine‐Dependent Epilepsy