Genetic Screening Test|Genetic Testing Dubai | FML | Freiburg Medical Laboratory, Dubai

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Genetic Testing and Panels

Genetic Testing

Genetic testing is most often done to confirm the diagnosis of a syndrome or disease, which is known to be caused by a genetic alteration.

These genetic changes can either be hereditary or occur de novo (for the first time). Often, in cases of hereditary genetic alterations, the syndrome/symptoms are known in the family and one or more relatives may have previously been diagnosed with this genetic change. Genetic testing allows the patient to confirm his/her diagnosis. In cases of de novo genetic alterations, the genetic changes are not passed down by the parents, but are present for the first time in the patient. Usually, in these cases, the doctor/geneticist will suspect a syndrome based on the symptoms and other tests, and order the genetic test for confirmation.

Gene Panel Sequencing

Genetic panel means that several genes known to be associated with a certain syndrome are sequenced simultaneously. Depending on the syndrome/symptoms, the number of associated genes may vary. Thus, the panels have varying numbers of genes included. This approach is most often used if the syndrome/symptoms are not known in the family and do not point to one specific syndrome. In a genetic panel, many genes involved in specific or unspecific symptoms can be tested at once.

Whole Exome Sequencing

Trio Exome Sequencing

Family Member Testing

Single Gene Sequencing

MLPA (Multiplex ligation-dependent probe amplification)

Karyotyping

FISH

aCGH – Array comparative genomic hybridization

Genetic Counseling (Pre-Test and Post-Test)

All kinds of genetic testing are available upon request. Please send us an email with the name of the syndrome/disorder or gene and we will send you the details (price, TAT, additional info) of the required test.

Gene Panel Sequencing

Audiology/Hearing Loss Gene Panels

Hearing Loss, mitochondrial, including aminoglycoside ototoxicity
Hearing Loss, nonsyndromic, autosomal dominant and X-linked
Hearing Loss, nonsyndromic, autosomal recessive and X-linked
Syndromic Hearing Loss Panel

Blood Disorder Gene Panels

Bone Marrow Failure Syndrome Panel
Erythrocytes, Anemia Panel
Hemochromatosis Panel
Thrombocytopenia Panel
VB12-dependent Megaloblastic Anemia Panel

Cardiology Gene Panels

Aorta Panel
Arrhythmia Panel
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel
Atrial Fibrillation Panel
Brugada Syndrome Panel
Cardiomyopathy Panel
Cardiomyopathy with onset in neonatal period, infancy or childhood panel
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
Comprehensive Cardiology Panel
Congenital Structural Heart Disease Panel
Dilated Cardiomyopathy (DCM) Panel
Ehlers-Danlos Syndrome Panel
Hereditary Hemorrhagic Telangiectasia (HHT) Panel
Heterotaxy and Situs Inversus Panel
Hypercholesterolemia and Hyperlipoproteinemia Panel
Hyperlipidemia Core Panel
Hyperlipidemia Panel
Hypertrophic Cardiomyopathy (HCM) Panel
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel
Liddle Syndrome Panel
Long QT Syndrome (LQTS) Panel
Marfan Syndrome Panel
Neuromuscular disease with Cardiomyopathy Panel
Noonan Syndrome Panel
Pulmonary Artery Hypertension (PAH) Panel
RASopathies Panel
Short QT Syndrome (SQTS) Panel

Ciliopathies Gene Panels

Bardet-Biedl Syndrome Panel
Joubert Syndrome Panel
Primary Ciliary Dyskinesia Panel
Senior-Loken Syndrome Panel

Connective Tissue Disease Gene Panels

Stickler syndrome Panel
Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses Panel

Dermatology Gene Panels

Adams-Oliver Syndrome Panel
Albinism Panel
Cutis Laxa Panel
Dyskeratosis Congenita Panel
Ectodermal dysplasia, selective tooth agenesis, richothiodystrophy, and hypotrichosis panel
Ehlers-Danlos Syndrome Panel
Epidermolysis Bullosa Panel
Hereditary Acrodermatitis Enteropathica Panel
Hereditary Melanoma and Skin Cancer Panel
Hermansky-Pudlak Syndrome Panel
Hyperpigmentation: Dowling-Degos disease and related disorders panel
Ichthyosis, palmoplantar keratoderma, and related disorders of cornification panel
Lymphedema Panel
Neurofibromatosis Panel
Oculocutaneous albinism panel
Pachyonychia Congenita Panel
Palmoplantar Keratoderma Panel
Photodermatosis: Xeroderma pigmentosum, Cockayne syndrome, COFS syndrome and related disorders panel
Progeria and Progeroid Syndromes Panel
Syndromic albinism and related disorders: Hermansky-Pudlak syndrome, Griscelli syndrome, Waardenburg syndrome panel
Tuberous Sclerosis Panel
Vascular disorders: hereditary hemorrhagic telangiectasia, cerebral cavernous malformations, association with MoyaMoya, and related disorders panel
Waardenburg Syndrome Panel
Xeroderma Pigmentosum Panel

Ear, Nose & Throat Gene Panels

Alport Syndrome Panel
Branchio-Oto-Renal (BOR) Syndrome Panel
Comprehensive Hearing Loss and Deafness Panel
Hereditary Hemorrhagic Telangiectasia (HHT) Panel
Non-Syndromic Hearing Loss Panel
Pendred Syndrome Panel
Stickler Syndrome Panel
Syndromic Hearing Loss Panel
Usher Syndrome Panel
Waardenburg Syndrome Panel

Epilepsy & Brain Development Disorders Gene Panels

Epilepsy

Epilepsy and Developmental Delay (including Epileptic Encephalopathies) Panel
Familial and Idiopathic Epilepsy Panel
GPI anchor deficiency with or without Hyperphosphatasia Panel
Hyperekplexia Panel
Metabolic/Mitochondrial Epilepsy Panel
Migraine Panel
Progressive Myoclonus Epilepsy and Neuronal Ceroid Lipofuscinosis Panel

Brain Development Disorders

Aicardi-Goutières Syndrome Panel
Cerebral Microangiopathies Panel
Coffin-Siris Syndrome Panel
Cornelia de Lange Syndrome Panel
Holoprosencephaly Spectrum Panel
Joubert Syndrome Panel
Leukodystrophy/Leukoencephalopathy Panel
Leukodystrophy/Leukoencephalopathy and Differential Diagnoses Panel
Macrocephaly Panel
Microcephaly and Pontocerebellar Hypoplasia Panel
Neuronal Migration Disorders Panel

Endocrinology Gene Panels

Abnormal Genitalia/Disorders of Sex Development Panel
Comprehensive Monogenic Diabetes Panel
Congenital Adrenal Hyperplasia Panel
Glucocorticoid Deficiency Panel
Hyperlipidemia Panel
Hyperparathyroidism Panel
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel
Hypomagnesemia Panel
Hypothyroidism and Resistance to Thyroid Hormone Panel
Kallmann Syndrome Panel
MODY Panel
Monogenic Obesity Panel
Premature Ovarian Failure Panel

Gastroenterology Gene Panels

Cholestasis Panel
Congenital Diarrhea Panel
Congenital Hepatic Fibrosis Panel
Gastrointestinal Atresia Panel
Hirschsprung Disease Panel
Pancreatitis Panel
Polycystic Liver Disease Panel

Hematology Gene Panels

Anemia Panel
Bleeding Disorder/Coagulopathy Panel
Bloom Syndrome Panel
Bone Marrow Failure Syndrome Panel
Coagulation Factor Deficiency Panel
Comprehensive Hematology Panel
Congenital Neutropenia Panel
Diamond-Blackfan Anemia Panel
Dyskeratosis Congenita Panel
Fanconi Anemia Panel
Hemophagocytic Lymphohistiocytosis Panel
Hereditary Cancer Panel
Hereditary Leukemia Panel
Hermansky-Pudlak Syndrome Panel
Platelet Function Disorder Panel
Red Blood Cell Membrane Disorder Panel
Thrombocytopenia Panel

Hereditary Cancer Gene Panels

Hereditary Breast and Gynecological Cancer Panel
Hereditary Breast Cancer High Risk Panel
Hereditary Cancer High Risk Panel
Hereditary Colorectal Cancer Panel
Hereditary Endocrine Cancer Panel
Hereditary Gastrointestinal Cancer Panel
Hereditary Leukemia Panel
Hereditary Lung Cancer Panel
Hereditary Melanoma and Skin Cancer Panel
Hereditary Pancreatic Cancer Core Panel
Hereditary Pancreatic Cancer Panel
Hereditary Paraganglioma-Pheochromocytoma Panel
Hereditary Pediatric Cancer Panel
Hereditary Renal Cancer Panel
Neurofibromatosis Panel
Tuberous Sclerosis Panel
Xeroderma Pigmentosum Panel

Immunology Gene Panels

Antibody Deficiency Panel
Autoinflammatory Syndrome Panel
Bone Marrow Failure Syndrome Panel
Chronic Granulomatous Disease Panel
Complement System Disorder/Compliment Deficiencies Panel
Congenital Neutropenia Panel
Defects of Phagocytes Panel
Dyskeratosis Congenita Panel
Hemophagocytic Lymphohistiocytosis Panel
Immune Dysregulation Panel
Innate Immunity defects Panel
Primary Immunodeficiency (PID) and Primary Ciliary Dyskinesia (PCD) Panel
Primary Immunodeficiency Panel
Severe Combined Immunodeficiency Panel

Liver Disease Gene Panels

Familial Cholestasis Panel
Lysosomal Storage Disorders Panel
Hypercholanemia and defects of bile acid synthesis panel
Recurrent acute liver failure panel
Impairments of transport in hepatocytes and cholangiocytes panel
Hepatic mitochondriopathies panel
Impairments of transport in hepatocytes and cholangiocytes panel
Impairments of organogenesis panel
Metabolic disorders of hepatocytes, including Tyrosinemia, Glycogen storage diseases,Hyperammonemia, Shwachman-Diamond syndrome, Disorder of fatty acid oxidations and Peroxisomal diseases

Malformations Gene Panels

3-M Syndrome/Primordial Dwarfism Panel
Adams-Oliver Syndrome Panel
Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel
Arthrogryposes Panel
Brachydactyly/Syndactyly Panel
Cerebral Cavernous Malformation Panel
Chondrodysplasia Punctata Panel
Cleft Lip/Palate and Associated Syndromes Panel
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel
Comprehensive Short Stature Syndrome Panel
Comprehensive Skeletal Dysplasias and Disorders Panel
Cornelia de Lange Syndrome Panel
Craniosynostosis Panel
Exostosis and Related Disorders Panel
Facial Dysostosis and Related Disorders Panel
Gastrointestinal Atresia Panel
Heterotaxy and Situs Inversus Panel
Hirschsprung Disease Panel
Holoprosencephaly Panel
Kabuki Syndrome Panel
Limb Malformations Panel
Lissencephaly Panel
Lymphatic Malformations and Related Disorders Panel
Macrocephaly/Overgrowth Syndrome Panel
Meier-Gorlin Syndrome Panel
Metaphyseal Dysplasia Panel
Microcephaly and Pontocerebellar Hypoplasia Panel
Micromelic Dysplasia Panel
Neurofibromatosis Panel
Neuronal Migration Disorder Panel
Osteogenesis Imperfecta Panel
Osteopetrosis and Dense Bone Dysplasia Panel
Polymicrogyria Panel
Seckel Syndrome Panel
Septo-Optic Dysplasia Panel
Short Rib Dysplasia/Asphyxiating Thoracic Dysplasia Panel
Skeletal Dysplasia with Abnormal Mineralization Panel
Skeletal Dysplasias Core Panel
Spondylometaphyseal/Spondyloepi-(meta)-physeal Dysplasia Panel
Vascular Malformations Panel

Metabolic Disorders Gene Panels

3-Methylglutaconic Aciduria Panel
Aicardi-Goutières Syndrome Panel
Coenzyme q10 Deficiency Panel
Comprehensive Metabolism Panel
Congenital and Familial Lipodystrophy Panel
Congenital Disorders of Glycosylation (CDG syndrome) Panel
Congenital Mono- and Disaccharide Disorders Panel
Creatine Metabolism Deficiency Panel
Cystinuria Panel
Fatty Acid Oxidation Syndrome Panel
Glycine encephalopathy Panel
Glycogen Storage Disorder Panel
Hereditary Hemochromatosis Panel
Homocystinuria Core Panel
Hyperammonemia and Urea Cycle Disorder Panel
Hyperinsulinemic hypoglycemia Panel
Hyperphenylalaninemia Panel
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel
Hypomagnesemia Panel
Lysosomal Disorders Panel
Maple Syrup Urine Disease and DLD Deficiency Panel
Maturity-onset Diabetes of the Young (MODY) Panel
Metabolic Liver Failure Panel
Metabolic Myopathy and Rhabdomyolysis Panel
Methylmalonic Acidemia Panel
Mitochondrial DNA Depletion Syndrome Panel
Molybdenum Cofactor and Sulfite Oxidase Deficiency Panel
Monogenic Obesity Panel
Mucopolysaccharidosis Panel
Nephrolithiasis Panel
Nonketotic Hyperglycinemia/Glycine Encephalopathy Panel
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel
Periodic Paralysis Panel
Peroxisomal Disorders Panel
Peroxisome Biogenesis Disorders: Zellweger spectrum disorder panel
Porphyria Panel
Purine and Pyrimidine Metabolism Disorders Panel
Pyridoxine- and Folic Acid-dependent epilepsy panel
Tyrosinemia Panel
Urea Cycle Disorders Panel

Nephrology/Kidney Gene Panels

Alport Syndrome Panel
Bardet-Biedl Syndrome Panel
Bartter Syndrome Panel
Branchio-Oto-Renal (BOR) Syndrome Panel
C1q Deficiency Panel
Ciliopathy Panel
Cystic Kidney Disease Panel
Diabetes Insipidus Panel
Focal segmental glomerulosclerosis panel
Hemolytic Uremic Syndrome Panel
Hypomagnesemia Panel
Hypophosphatemic Rickets Panel
Joubert Syndrome Panel
Liddle Syndrome Panel
Meckel Syndrome Panel
Monogenic Obesity Panel
Nephrolithiasis Panel
Nephronophthisis Panel
Nephrotic Syndrome Panel
Polycystic Kidney Disease Panel
Primary Ciliary Dyskinesia Panel
Primary Hyperoxaluria Panel
Primary Inherited Aminoacidurias Panel
Pseudohypoaldosteronism Panel
Renal dysplasia, renal agenesia Panel
Renal Malformation Panel
Renal Tubular Acidosis Panel
Senior-Loken Syndrome Panel

Neurology Gene Panels

Amyotrophic Lateral Sclerosis Panel
Ataxia Panel
Autism Spectrum Disorders Panel
Basal Ganglia Calcification
Beyond Paediatric Epilepsy panel
Cerebral Cavernous Malformation Panel
Cerebral Small Vessel Disease Panel
Charcot-Marie-Tooth Neuropathy Panel
Choreatic Movement Disorders
Coenzyme q10 Deficiency Panel
Collagen Type VI-Related Disorders Panel
Comprehensive Epilepsy Panel
Comprehensive Muscular Dystrophy/Myopathy Panel
Congenital Myasthenic Syndromes Panel
Creatine Metabolism Deficiency Panel
Dementia Panel
Dystonia Panel
Emery-Dreifuss Muscular Dystrophy Panel
Epileptic Encephalopathy Panel
Heredodegenerative Syndromes Panel
Holoprosencephaly Panel
Idiopathic Generalized and Focal Epilepsy Panel
Leukodystrophy and Leukoencephalopathy Panel
LGMD and Congenital Muscular Dystrophy Panel
Lissencephaly Panel
Macrocephaly/Overgrowth Syndrome Panel
Metabolic Epilepsy Panel
Metabolic Myopathy and Rhabdomyolysis Panel
Microcephaly and Pontocerebellar Hypoplasia Panel
Migraine Panel
NCL and Progressive Myoclonic Epilepsy Panel
Nemaline Myopathy Panel
Neurocanthocytosis Panel
Neuronal Migration Disorder Panel
Neuronal Ceroid Lipofuscinosis Panel
Neuro-Ophthalmology Panel
Parkinson Disease Panel
Paroxysmal Dyskinesia Panel
Periodic Paralysis Panel
Polymicrogyria Panel
Porphyria Panel
Primary Torsion Dystonia Panel
Septo-Optic Dysplasia Panel
Spastic Paraplegia Panel
Spinal Muscular Atrophy Panel
Tuberous Sclerosis Panel
X-linked Intellectual Disability Panel

Neuromuscular Disease Gene Panels

Arthrogryposis Panel
Congenital and Distal Myopathies Panel
Congenital Myasthenic Syndromes Panel
Hereditary Neuropathies Panel
Limb-Girdle Muscular Dystrophies Panel
Metabolic Myopathies Panel
Muscular Dystrophies Panel
Myotonias Panel
Periodic Paralyses Panel
Spinal Muscular Atrophies Panel
Walker-Warburg Syndrome Panel

Ophthalmology/Eye Gene Panel

Achromatopsia Panel
Albinism Panel
Bardet-Biedl Syndrome Panel
Cataract Panel
Cone Rod Dystrophy Panel
Congenital Stationary Night Blindness Panel
Corneal Dystrophy Panel
Ectopia Lentis Panel
Flecked Retina Disorders Panel
Glaucoma Panel
Joubert Syndrome Panel
Leber Congenital Amaurosis Panel
Macular Dystrophy Panel
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
Neuro-Ophthalmology Panel
Ocular malformations panel (microphthalmia/anophthalmia/nanophthalmia/ coloboma)
Oculocutaneous Albinism Panel
Optic Atrophy Panel
Retinal Dystrophy Panel
Retinitis Pigmentosa Panel
Senior-Loken Syndrome Panel
Septo-Optic Dysplasia Panel
Stargardt disease and macular dystrophies panel
Stickler Syndrome Panel
Syndromic albinism (Hermansky-Pudlak/Waardenburg/Vici/ Griscelli)
Usher Syndrome Panel
Vitreoretinopathies (Wagner syndrome/Norrie/Coats)
Zellweger syndrome spectrum (Refsum/Zellweger/neonatale adrenoleukodystrophy)

Pulmonology Gene Panels

Bronchiectasis Panel
Central Hypoventilation and Apnea Panel
Comprehensive Pulmonology Panel
Cystic Fibrosis Panel
Cystic Lung Disease Panel
Hermansky-Pudlak Syndrome Panel
Interstitial Lung Disease Panel
Neonatal Respiratory Distress – Surfactant Dysfunction Panel
Primary Ciliary Dyskinesia Panel
Pulmonary Artery Hypertension (PAH) Panel

Skeletal Disorders Gene Panels

Achondroplasia, Hypochondroplasia, and Pseudoachondroplasia Panel
Chondrodysplasia punctate panel
Cleidocranial dysplasia and related disorders panel
Craniofacial and patellar dysostoses; dysostoses with vertebral and costal inolvement: Klippel-Feil syndrome, Meier-Gorlin syndrome, and related disorders panel
Craniosynostosis Panel
Hypophosphatemic rickets and related skeletal dysplasias with abnormal mineralization panel
Limb malformations: isolated brachydactyly, synostoses, split-hand/foot, polydactyly, syndactyly, and selected genetic syndromes with limb malformations panel
Lysosomal storage disorders with skeletal involvement panel
Metaphyseal dysplasia panel
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia panel
Multiple epiphyseal dysplasia and pseudoachondroplasia panel
Multiple exostoses panel
Osteogenesis imperfecta and related skeletal dysplasias with decreased bone density panel
Osteopetrosis and related skeletal dysplasias with increased bone density panel
Potentially lethal skeletal disorders panel
Seckel syndrome, 3-M syndrome, Rubinstein–Taybi syndrome, Kabuki syndrome, and further selected genetic syndromes with skeletal involvement panel
Short-rib dysplasia panel
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia panel

Mitochondrial DNA Testing - Mitochondriopathies Gene Panels

Mitochondrial DNA (mtDNA)–37 Genes
Nuclear encoded mitochondrial diseases–359 Genes
Leigh syndrome (nuclear genes)
Mitochondrial encephalopathy/Mitochondrial Hepato(encephalo)pathy
Mitochondrial DNA-depletion and deletion syndromes
Pyruvate Metabolism Disorders
Combined oxidative phosphorylation deficiency
Complex I Deficiency
Complex II Deficiency
Complex III Deficiency
Complex IV Deficiency
Complex V Deficiency
CoQ10 Deficiency and Acyl-CoA-Dehydrogenase Deficiency
Methylglutaconic Aciduria(MGA)
MELAS and MERRF syndrome
Progressive external ophthalmoplegia(PEO/CPEO)

Material

5 ml EDTA-blood from the patient

Method

High-throughput sequencing

Results

The detected variants are analyzed and evaluated by an experienced team of scientists and geneticists and summarized in a comprehensive medical report.