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برای هر گونه کمک و راهنمایی بیشتر لطفا با مرکز تماس حاصل فرمائید.
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 |
- آزمایشات کروموزومی (سیتوژنتیک)
- آزمایشات مولکولی (تشخیص بیماری های تک ژنی)
- آزمایشات تشخیص پانل بیماری ها
- آزمایشات توالی یابی نسل جدید (شامل آزمایشات کل اگزوم )
- Array-CGH
- تست غیرتهاجمی تشخیص قبل از تولد (Non-Invasive prenatal test (NIPT
- هیبریداسیون فلوئورسانس در جا (FISH)
- قرارداد با بیمه ها
- پذیرش رایگان بیماران ارجاعی از بهزیستی
- پذیرش بیماران ارجاعی از مراکز بهداشتی
- این ازمایشگاه افتخار دارد که سالها به عنوان نماینده انحصاری و معتبر دو کمپانی زیر در ایران و آذربایجان فعال بوده است شامل:
- کمپانی CeGaT آلمان
- کمپانی Genomize ترکیه
- برای پزشکان
- برای همکاران
- برای بیماران
- بیماریهای تک ژنی
- PND
- تست های سیتوژنتیک
- بررسی ترانسلوکاسیونهای ژنهای عامل سرطان (RNA)
- Real time PCR
- Array-CGH
- NIPT
- MLPA
- توالی یابی نسل جدید (NGS)
- خون
- مغز استخوان (B.M)
- مایع آمنیوتیک
- پرزهای جفتی
- بافت جنین سقط شده
- بافت توموری
- بلوکهای پارافینه
- بزاق
- مو و ناخن و استخوان جهت تعیین هویت
- کاریوتایپ
- توالی یابی ژنی
- ARMS PCR
- RFLP
- Multiplex PCR
- آنالیز فراگمنت (MLPA)
- بیوانفورماتیک
- حضوری
- با پست
- آنلاین
- نمونه نتایج Real time PCR
- نمونه نتایج MLPA
- نمونه نتایج آنالیز RNA
- نمونه نتایج کاریوتایپ
- نمونه نتایج توالی یابی تک ژنی
- نمونه نتایج NGS
- نمونه نتایج بررسی پانلها
- نمونه نتایج QF-PCR